#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADRM1	11047	hgsc.bcm.edu;ucsc.edu	37	20	60883769	60883770	+	In_Frame_Ins	INS	-	-	GACACGAAG	rs140380365|rs202079747	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr20:60883769_60883770insGACACGAAG	ENST00000253003.2	+	10	1222_1223	c.1176_1177insGACACGAAG	c.(1177-1179)gac>GACACGAAGgac	p.393_393D>DTKD	LAMA5_ENST00000492698.1_Intron|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	393	Interaction with UCHL5.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			AGAAAGAGGGCGACACGAAGGA	0.574														37	0.00738818	0.0	0.013	5008	,	,		23489	0.0		0.0258	False		,,,				2504	0.002																0																																										SO:0001652	inframe_insertion	11047			D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.1177_1185dupGACACGAAG	20.37:g.60883770_60883778dupGACACGAAG	Exception_encountered		A0PKB1|Q96FJ7|Q9H1P2	In_Frame_Ins	INS	ENST00000253003.2	37	CCDS13496.1																																																																																				0.574	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1			
AHNAK2	113146	hgsc.bcm.edu	37	14	105416367	105416367	+	Silent	SNP	A	A	C	rs34605366	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr14:105416367A>C	ENST00000333244.5	-	7	5540	c.5421T>G	c.(5419-5421)ggT>ggG	p.G1807G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1807						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGACAGGTCACCCTCCAGCC	0.622													.|||	45	0.00898562	0.0219	0.0058	5008	,	,		16537	0.002		0.006	False		,,,				2504	0.0041																0													139.0	169.0	159.0					14																	105416367		2000	4143	6143	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5421T>G	14.37:g.105416367A>C			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420	
AHNAK2	113146	hgsc.bcm.edu	37	14	105416838	105416839	+	Missense_Mutation	DNP	CG	CG	AT	rs145693791|rs180896416	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr14:105416838_105416839CG>AT	ENST00000333244.5	-	7	5068_5069	c.4949_4950CG>AT	c.(4948-4950)gCG>gAT	p.A1650D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1650						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGCAGTCACCGCCTTGTCGGC	0.594																																																	0																																										SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4949_4950delinsAT	14.37:g.105416838_105416839delinsAT	ENSP00000353114:p.Ala1650Asp		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent|Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.594	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420	
ALG13	79868	hgsc.bcm.edu	37	X	110987996	110987996	+	Silent	SNP	A	A	T	rs56717389		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chrX:110987996A>T	ENST00000394780.3	+	24	2808	c.2796A>T	c.(2794-2796)ccA>ccT	p.P932P	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Intron	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	932	Pro-rich.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.P932P(7)		endometrium(2)|lung(10)|skin(1)	13						caccaccaccacctcctcctc	0.567																																																	7	Substitution - coding silent(7)	endometrium(7)											10.0	8.0	8.0					X																	110987996		1493	3408	4901	SO:0001819	synonymous_variant	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2796A>T	X.37:g.110987996A>T			B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	CCDS55477.1																																																																																				0.567	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1		NM_018466	
ANKRD36	375248	hgsc.bcm.edu	37	2	97817647	97817647	+	Missense_Mutation	SNP	A	A	G	rs79579412		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:97817647A>G	ENST00000461153.2	+	13	1377	c.1133A>G	c.(1132-1134)aAg>aGg	p.K378R	ANKRD36_ENST00000420699.2_Missense_Mutation_p.K378R			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	378										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CCAAAGAGAAAGATTATTTCT	0.284																																																	0													126.0	101.0	108.0					2																	97817647		692	1591	2283	SO:0001583	missense	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1133A>G	2.37:g.97817647A>G	ENSP00000419530:p.Lys378Arg		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	6.714	0.500361	0.12762	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	T;T	0.19532	2.14;2.14	1.3	-2.61	0.06171	.	.	.	.	.	T	0.08179	0.0204	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.26326	-1.0106	8	0.36615	T	0.2	.	2.9988	0.06007	0.2324:0.0:0.4341:0.3334	.	378	A6QL64	AN36A_HUMAN	R	378	ENSP00000419530:K378R;ENSP00000391950:K378R	ENSP00000391950:K378R	K	+	2	0	ANKRD36	97181374	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.598000	0.05706	-1.256000	0.02478	-1.194000	0.01681	AAG		0.284	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			
ARL2	402	broad.mit.edu;hgsc.bcm.edu	37	11	64786159	64786159	+	Missense_Mutation	SNP	G	G	A	rs571758436		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:64786159G>A	ENST00000246747.4	+	3	388	c.293G>A	c.(292-294)cGc>cAc	p.R98H	ARL2_ENST00000533729.1_Missense_Mutation_p.R98H|RP11-399J13.3_ENST00000301886.3_Missense_Mutation_p.R98H|ARL2_ENST00000529384.1_Missense_Mutation_p.R98H	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	98					cell cycle (GO:0007049)|centrosome organization (GO:0051297)|GTP catabolic process (GO:0006184)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of GTPase activity (GO:0034260)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of microtubule polymerization (GO:0031116)|regulation of microtubule polymerization (GO:0031113)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|tubulin complex assembly (GO:0007021)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|GTPase inhibitor activity (GO:0005095)	p.R98H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GACCGCCAGCGCATGCAGGAC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		20729	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	kidney(1)											51.0	52.0	51.0					11																	64786159		2200	4297	6497	SO:0001583	missense	402			AF493888	CCDS8088.1, CCDS55770.1	11q13	2014-05-09			ENSG00000213465	ENSG00000213465		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	693	protein-coding gene	gene with protein product		601175				8415637, 9253601	Standard	NM_001667		Approved	ARFL2	uc001och.4	P36404	OTTHUMG00000165728	ENST00000246747.4:c.293G>A	11.37:g.64786159G>A	ENSP00000246747:p.Arg98His		G3V184|Q9BUK8	Missense_Mutation	SNP	ENST00000246747.4	37	CCDS8088.1	.	.	.	.	.	.	.	.	.	.	G	34	5.387341	0.95988	.	.	ENSG00000213465	ENST00000246747;ENST00000529384;ENST00000533729	T;T;T	0.79454	-1.27;-1.27;-1.27	4.82	4.82	0.62117	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000001	D	0.92146	0.7510	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.986	D	0.94614	0.7807	10	0.87932	D	0	-5.9605	15.4383	0.75162	0.0:0.0:1.0:0.0	.	98;98	B4DGG0;P36404	.;ARL2_HUMAN	H	98	ENSP00000246747:R98H;ENSP00000436021:R98H;ENSP00000432971:R98H	ENSP00000246747:R98H	R	+	2	0	ARL2	64542735	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	7.204000	0.77872	2.523000	0.85059	0.650000	0.86243	CGC		0.617	ARL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385963.1		NM_001667	
ATG2B	55102	broad.mit.edu;hgsc.bcm.edu	37	14	96789012	96789012	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr14:96789012T>G	ENST00000359933.4	-	17	3494	c.2601A>C	c.(2599-2601)gaA>gaC	p.E867D	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	867					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.E867D(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CCTCTTCTTCTTCAGCTGCAA	0.408																																																	1	Substitution - Missense(1)	kidney(1)											120.0	114.0	116.0					14																	96789012		1908	4120	6028	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2601A>C	14.37:g.96789012T>G	ENSP00000353010:p.Glu867Asp		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	16.37	3.103843	0.56291	.	.	ENSG00000066739	ENST00000359933	T	0.11385	2.78	5.67	1.67	0.24075	.	0.000000	0.64402	U	0.000001	T	0.19805	0.0476	L	0.49350	1.555	0.46542	D	0.999095	D	0.69078	0.997	D	0.72625	0.978	T	0.01643	-1.1305	10	0.39692	T	0.17	.	5.725	0.18008	0.0:0.5895:0.1305:0.2799	.	867	Q96BY7	ATG2B_HUMAN	D	867	ENSP00000353010:E867D	ENSP00000353010:E867D	E	-	3	2	ATG2B	95858765	0.361000	0.24972	0.993000	0.49108	0.991000	0.79684	-0.340000	0.07821	0.330000	0.23485	-0.177000	0.13119	GAA		0.408	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1		NM_018036	
ATP2A1	487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28913241	28913241	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr16:28913241A>T	ENST00000357084.3	+	16	2425	c.2158A>T	c.(2158-2160)Atg>Ttg	p.M720L	ATP2A1_ENST00000395503.4_Missense_Mutation_p.M720L|ATP2A1_ENST00000536376.1_Missense_Mutation_p.M595L	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	720					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.M720L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGGCATTGCCATGGGATCTGG	0.597																																																	1	Substitution - Missense(1)	kidney(1)											91.0	71.0	78.0					16																	28913241		2197	4300	6497	SO:0001583	missense	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2158A>T	16.37:g.28913241A>T	ENSP00000349595:p.Met720Leu		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.833635	0.91036	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.97505	-4.41;-4.41;-4.41	5.27	5.27	0.74061	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98226	0.9413	M	0.89715	3.055	0.58432	D	0.999999	P;P;P	0.50943	0.603;0.9;0.94	P;P;P	0.56163	0.537;0.626;0.793	D	0.99078	1.0836	10	0.87932	D	0	.	14.1529	0.65398	1.0:0.0:0.0:0.0	.	595;720;720	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	L	720;720;757;595	ENSP00000349595:M720L;ENSP00000378879:M720L;ENSP00000443101:M595L	ENSP00000349595:M720L	M	+	1	0	ATP2A1	28820742	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.238000	0.95380	1.990000	0.58119	0.459000	0.35465	ATG		0.597	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2		NM_004320	
DNM1P46	196968	broad.mit.edu	37	15	100340123	100340125	+	RNA	DEL	AGA	AGA	-	rs368425453		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr15:100340123_100340125delAGA	ENST00000341853.1	-	0	801_803					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										AGCAGCTCCGAGAAGATGAACTC	0.611																																																	0																																												0			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340126_100340128delAGA			Q3ZCN3	RNA	DEL	ENST00000341853.1	37																																																																																					0.611	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1		NR_003260	
NCOR1P1	149934	hgsc.bcm.edu	37	20	26084175	26084175	+	RNA	SNP	G	G	A	rs61752033	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr20:26084175G>A	ENST00000478176.1	-	0	282					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		GCAATTTCTCGATCTACACGA	0.363													G|||	8	0.00159744	0.0061	0.0	5008	,	,		13589	0.0		0.0	False		,,,				2504	0.0																0													90.0	67.0	74.0					20																	26084175		692	1591	2283			0			AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084175G>A			A2RUA0	RNA	SNP	ENST00000478176.1	37																																																																																					0.363	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			
FOXL2NB	401089	hgsc.bcm.edu;ucsc.edu	37	3	138668458	138668467	+	Frame_Shift_Del	DEL	GGCATTCGAA	GGCATTCGAA	-	rs141282655	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	GGCATTCGAA	GGCATTCGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:138668458_138668467delGGCATTCGAA	ENST00000383165.3	+	2	328_337	c.197_206delGGCATTCGAA	c.(196-207)cggcattcgaagfs	p.RHSK66fs	FOXL2_ENST00000330315.3_5'Flank	NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		66								p.H67L(1)		large_intestine(1)|lung(3)	4						ATGGCTGTCCGGCATTCGAAGGCTCAGAAA	0.576														45	0.00898562	0.0015	0.013	5008	,	,		16507	0.0		0.0278	False		,,,				2504	0.0061																1	Substitution - Missense(1)	lung(1)								15,3715		0,15,1850						-5.5	0.0		dbSNP_134	72	140,7790		0,140,3825	no	frameshift	C3orf72	NM_001040061.2		0,155,5675	A1A1,A1R,RR		1.7654,0.4021,1.3293				155,11505				SO:0001589	frameshift_variant	401089																														ENST00000383165.3:c.197_206delGGCATTCGAA	3.37:g.138668458_138668467delGGCATTCGAA	ENSP00000372651:p.Arg66fs		A6NGX0	Frame_Shift_Del	DEL	ENST00000383165.3	37	CCDS43155.1																																																																																				0.576	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1			
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu	37	1	201036117	201036117	+	Missense_Mutation	SNP	G	G	A	rs200334886		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:201036117G>A	ENST00000362061.3	-	20	2781	c.2555C>T	c.(2554-2556)aCg>aTg	p.T852M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.T852M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	852					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.T852M(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCGTAGGTCGTCATCTGGGG	0.582																																																	1	Substitution - Missense(1)	kidney(1)						G	MET/THR	0,4406		0,0,2203	79.0	64.0	69.0		2555	3.8	1.0	1		69	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CACNA1S	NM_000069.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	852/1874	201036117	1,13005	2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2555C>T	1.37:g.201036117G>A	ENSP00000355192:p.Thr852Met		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715239	0.68844	0.0	1.16E-4	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98400	-4.91;-4.91	3.81	3.81	0.43845	Ion transport (1);	0.062948	0.64402	U	0.000006	D	0.98143	0.9387	L	0.47078	1.49	0.58432	D	0.999998	D	0.62365	0.991	D	0.66084	0.941	D	0.99211	1.0876	10	0.66056	D	0.02	.	16.0476	0.80731	0.0:0.0:1.0:0.0	.	852	Q13698	CAC1S_HUMAN	M	852	ENSP00000355192:T852M;ENSP00000356307:T852M	ENSP00000355192:T852M	T	-	2	0	CACNA1S	199302740	1.000000	0.71417	0.975000	0.42487	0.829000	0.46940	5.555000	0.67301	1.835000	0.53391	0.549000	0.68633	ACG		0.582	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069	
CDCA2	157313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	25364809	25364809	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr8:25364809C>T	ENST00000330560.3	+	15	3104	c.2627C>T	c.(2626-2628)gCc>gTc	p.A876V	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.A861V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	876					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A876V(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTGTCTGATGCCATTGAGCAA	0.393																																																	1	Substitution - Missense(1)	kidney(1)											68.0	71.0	70.0					8																	25364809		2203	4300	6503	SO:0001583	missense	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2627C>T	8.37:g.25364809C>T	ENSP00000328228:p.Ala876Val		Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	c	14.05	2.420230	0.42918	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.39056	1.1;1.1	5.81	4.94	0.65067	.	0.815366	0.11470	N	0.560890	T	0.39200	0.1069	L	0.29908	0.895	0.09310	N	1	P;P	0.42296	0.775;0.775	B;B	0.43916	0.436;0.436	T	0.26573	-1.0099	10	0.66056	D	0.02	4.0E-4	12.5017	0.55960	0.167:0.833:0.0:0.0	.	861;876	E9PEI0;Q69YH5	.;CDCA2_HUMAN	V	876;861;275	ENSP00000328228:A876V;ENSP00000370040:A861V	ENSP00000328228:A876V	A	+	2	0	CDCA2	25420726	0.052000	0.20516	0.149000	0.22428	0.125000	0.20455	1.633000	0.37113	1.477000	0.48234	-0.127000	0.14921	GCC		0.393	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3		NM_152562	
CELA3A	10136	hgsc.bcm.edu	37	1	22332241	22332241	+	Missense_Mutation	SNP	A	A	G	rs75527968	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:22332241A>G	ENST00000290122.3	+	4	333	c.314A>G	c.(313-315)gAg>gGg	p.E105G	RN7SL768P_ENST00000584415.1_RNA|CELA3A_ENST00000374663.1_Missense_Mutation_p.E105G	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	105	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATCAACTCTGAGGAGCTGTTT	0.592											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	5	0.000998403	0.0015	0.0014	5008	,	,		21127	0.0		0.0	False		,,,				2504	0.002																0													128.0	112.0	118.0					1																	22332241		2197	4300	6497	SO:0001583	missense	10136			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.314A>G	1.37:g.22332241A>G	ENSP00000290122:p.Glu105Gly	755	B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	CCDS220.1	.	.	.	.	.	.	.	.	.	.	A	5.149	0.213076	0.09757	.	.	ENSG00000142789	ENST00000290122;ENST00000374663;ENST00000374661	T;D	0.93547	2.21;-3.24	3.88	-0.633	0.11519	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.86560	0.5962	L	0.38953	1.18	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.16289	0.015;0.005	T	0.71262	-0.4645	9	0.18710	T	0.47	-3.7117	6.9051	0.24305	0.575:0.0:0.425:0.0	.	105;105	B1AQ52;P09093	.;CEL3A_HUMAN	G	105;105;121	ENSP00000290122:E105G;ENSP00000363795:E105G	ENSP00000290122:E105G	E	+	2	0	CELA3A	22204828	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-1.034000	0.03567	0.009000	0.14813	-1.727000	0.00703	GAG		0.592	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1		NM_005747	
COG3	83548	broad.mit.edu;hgsc.bcm.edu	37	13	46054427	46054427	+	Splice_Site	SNP	T	T	C			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr13:46054427T>C	ENST00000349995.5	+	4	661		c.e4+2			NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3						ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.?(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		AAAGAACAGGTAATTTGGAGT	0.333																																					Ovarian(150;1048 1859 18083 21577 42700)												1	Unknown(1)	kidney(1)											72.0	70.0	70.0					13																	46054427		2203	4300	6503	SO:0001630	splice_region_variant	83548			AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.549+2T>C	13.37:g.46054427T>C			B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Splice_Site	SNP	ENST00000349995.5	37	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	T	18.51	3.639911	0.67244	.	.	ENSG00000136152	ENST00000349995	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2574	0.73596	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	COG3	44952428	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	7.651000	0.83577	2.200000	0.70718	0.482000	0.46254	.		0.333	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			Intron
COG4	25839	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	70548368	70548368	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr16:70548368G>C	ENST00000323786.5	-	4	435	c.414C>G	c.(412-414)gaC>gaG	p.D138E	COG4_ENST00000393612.4_Missense_Mutation_p.D134E|COG4_ENST00000564653.1_Missense_Mutation_p.D138E	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	134	Interacts with STX5.				Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.D138E(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AGAACTTCAGGTCCAAGATGT	0.463																																																	1	Substitution - Missense(1)	kidney(1)											115.0	98.0	104.0					16																	70548368		2198	4300	6498	SO:0001583	missense	25839			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.414C>G	16.37:g.70548368G>C	ENSP00000315775:p.Asp138Glu		B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836223	0.71373	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612;ENST00000534772	T;T;T	0.41065	1.01;1.01;1.01	5.51	4.56	0.56223	.	0.042720	0.85682	D	0.000000	T	0.51719	0.1691	L	0.49640	1.575	0.58432	D	0.999992	D;D	0.63880	0.984;0.993	P;P	0.59171	0.732;0.853	T	0.54309	-0.8313	10	0.87932	D	0	-20.9151	10.5288	0.44965	0.1477:0.0:0.8523:0.0	.	133;134	Q6PIW8;Q9H9E3	.;COG4_HUMAN	E	138;134;134;61	ENSP00000315775:D138E;ENSP00000377236:D134E;ENSP00000461912:D61E	ENSP00000315775:D138E	D	-	3	2	COG4	69105869	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.453000	0.44970	1.331000	0.45412	-0.258000	0.10820	GAC		0.463	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			
CXorf40B	541578	hgsc.bcm.edu	37	X	149102006	149102006	+	Silent	SNP	A	A	G	rs626113		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chrX:149102006A>G	ENST00000370406.3	-	4	915	c.87T>C	c.(85-87)ccT>ccC	p.P29P	CXorf40B_ENST00000355203.2_Silent_p.P29P|CXorf40B_ENST00000462691.1_Silent_p.P29P|CXorf40B_ENST00000370404.1_Silent_p.P29P			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	29										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTCAGCAGAGGACGCCAGC	0.592													G|||	131	0.034702	0.0446	0.0159	3775	,	,		14099	0.003		0.0308	False		,,,				2504	0.0276																0													73.0	66.0	68.0					X																	149102006		2130	4282	6412	SO:0001819	synonymous_variant	541578			BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.87T>C	X.37:g.149102006A>G				Silent	SNP	ENST00000370406.3	37	CCDS35426.1																																																																																				0.592	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2		NP_001013867	
DIXDC1	85458	hgsc.bcm.edu	37	11	111835369	111835369	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:111835369delG	ENST00000529225.1	+	3	434	c.154delG	c.(154-156)gggfs	p.G52fs	DIXDC1_ENST00000440460.2_Frame_Shift_Del_p.G53fs|DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000531396.1_Frame_Shift_Del_p.G53fs	NM_001278542.1	NP_001265471.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	53	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TCTCCGGGATGGGGTGATCCT	0.522																																																	0													66.0	71.0	69.0					11																	111835369		1953	4149	6102	SO:0001589	frameshift_variant	85458			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000529225.1:c.154delG	11.37:g.111835369delG	ENSP00000434130:p.Gly52fs		A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Frame_Shift_Del	DEL	ENST00000529225.1	37																																																																																					0.522	DIXDC1-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000391831.1		NM_001037954	
DIXDC1	85458	hgsc.bcm.edu;ucsc.edu	37	11	111835364	111835365	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:111835364_111835365insC	ENST00000529225.1	+	3	429_430	c.149_150insC	c.(148-153)cgggatfs	p.D51fs	DIXDC1_ENST00000440460.2_Frame_Shift_Ins_p.D52fs|DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000531396.1_Frame_Shift_Ins_p.D52fs	NM_001278542.1	NP_001265471.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	52	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CAAGATCTCCGGGATGGGGTGA	0.515																																																	0																																										SO:0001589	frameshift_variant	85458			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	Exception_encountered	11.37:g.111835364_111835365insC	ENSP00000434130:p.Asp51fs		A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Frame_Shift_Ins	INS	ENST00000529225.1	37																																																																																					0.515	DIXDC1-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000391831.1		NM_001037954	
DPCR1	135656	hgsc.bcm.edu	37	6	30917388	30917388	+	De_novo_Start_OutOfFrame	SNP	C	C	A	rs538677376	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr6:30917388C>A	ENST00000304311.2	+	0	1147				DPCR1_ENST00000462446.1_Missense_Mutation_p.H383N|HCG21_ENST00000419481.1_RNA	NM_080870.3	NP_543146.2	Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GCCTACAGAACATGGAGAAAG	0.493													-|||	9	0.00179712	0.0015	0.0	5008	,	,		25455	0.004		0.002	False		,,,				2504	0.001																0													161.0	142.0	147.0					6																	30917388		692	1591	2283			135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000304311.2:c.-2328C>A	6.37:g.30917388C>A			C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000304311.2	37		.	.	.	.	.	.	.	.	.	.	-	2.807	-0.247784	0.05867	.	.	ENSG00000168631	ENST00000462446	T	0.59772	0.24	2.02	1.13	0.20643	.	.	.	.	.	T	0.26593	0.0650	L	0.39245	1.2	0.18873	N	0.999988	P	0.44344	0.833	P	0.44477	0.451	T	0.09292	-1.0681	9	0.17832	T	0.49	.	6.6264	0.22833	0.0:0.8379:0.0:0.1621	.	383	E9PEI6	.	N	383	ENSP00000417182:H383N	ENSP00000417182:H383N	H	+	1	0	DPCR1	31025367	0.000000	0.05858	0.002000	0.10522	0.163000	0.22366	-0.895000	0.04118	0.432000	0.26286	0.430000	0.28490	CAT		0.493	DPCR1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_080870	
EOMES	8320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	27760303	27760303	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:27760303T>G	ENST00000295743.4	-	4	1443	c.1240A>C	c.(1240-1242)Aat>Cat	p.N414H	EOMES_ENST00000449599.1_Missense_Mutation_p.N414H|EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000537516.1_Missense_Mutation_p.N119H			O95936	EOMES_HUMAN	eomesodermin	414					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N414H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GAGGGCTCATTCAAGTCCTCC	0.443																																																	1	Substitution - Missense(1)	kidney(1)											128.0	123.0	125.0					3																	27760303		2203	4300	6503	SO:0001583	missense	8320			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1240A>C	3.37:g.27760303T>G	ENSP00000295743:p.Asn414His		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.053595	0.36277	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.85955	-2.05;-2.05;-1.78	5.34	5.34	0.76211	p53-like transcription factor, DNA-binding (1);	0.285222	0.42964	D	0.000633	D	0.86280	0.5895	L	0.42632	1.34	0.48341	D	0.999633	B;P;D	0.54047	0.014;0.955;0.964	B;P;P	0.56751	0.005;0.706;0.805	T	0.82902	-0.0227	10	0.14656	T	0.56	.	15.646	0.77049	0.0:0.0:0.0:1.0	.	128;414;414	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	H	414;414;119;279	ENSP00000295743:N414H;ENSP00000388620:N414H;ENSP00000442097:N119H	ENSP00000295743:N414H	N	-	1	0	EOMES	27735307	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.290000	0.72712	2.164000	0.68074	0.533000	0.62120	AAT		0.443	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1		NM_005442	
ERICH6B	220081	hgsc.bcm.edu	37	13	46170720	46170737	+	In_Frame_Del	DEL	CCAGATACTCTTCCTCCT	CCAGATACTCTTCCTCCT	-	rs373081063|rs117004691|rs28548352|rs142875900|rs28460344|rs45625342|rs375947127	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	CCAGATACTCTTCCTCCT	CCAGATACTCTTCCTCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr13:46170720_46170737delCCAGATACTCTTCCTCCT	ENST00000298738.2	-	3	568_585	c.404_421delAGGAGGAAGAGTATCTGG	c.(403-423)gaggaggaagagtatctgggg>ggg	p.EEEEYL135del		NM_182542.2	NP_872348.2	Q5W0A0	ERI6B_HUMAN		135	Glu-rich.									breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)	5						CCTTCCTTCCCCAGATActcttcctcctccagatgctc	0.486														1379	0.275359	0.1362	0.4308	5008	,	,		23489	0.1607		0.493	False		,,,				2504	0.2474																0										414,2088		68,278,905						-4.5	0.0		dbSNP_134	119	2412,2596		704,1004,796	no	coding	FAM194B	NM_182542.2		772,1282,1701	A1A1,A1R,RR		48.1629,16.5468,37.6298				2826,4684				SO:0001651	inframe_deletion	220081																														ENST00000298738.2:c.404_421delAGGAGGAAGAGTATCTGG	13.37:g.46170720_46170737delCCAGATACTCTTCCTCCT	ENSP00000298738:p.Glu135_Leu140del		Q96MB5	In_Frame_Del	DEL	ENST00000298738.2	37	CCDS45045.1																																																																																				0.486	FAM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044781.3			
FAM86C1	55199	hgsc.bcm.edu	37	11	71504464	71504464	+	Silent	SNP	C	C	T	rs139287982	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:71504464C>T	ENST00000359244.4	+	3	221	c.198C>T	c.(196-198)taC>taT	p.Y66Y	FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	66										lung(1)	1						ATGAGCTGTACGAGGTGCTGG	0.567													.|||	316	0.063099	0.0499	0.0591	5008	,	,		19080	0.0933		0.0577	False		,,,				2504	0.0583																0								C	,,	79,4231		2,75,2078	41.0	39.0	40.0		,198,	-0.8	0.3	11	dbSNP_134	40	211,8365		3,205,4080	no	intron,coding-synonymous,intron	FAM86C1	NM_001099653.1,NM_018172.2,NM_152563.2	,,	5,280,6158	TT,TC,CC		2.4604,1.8329,2.2505	,,	,66/166,	71504464	290,12596	2155	4288	6443	SO:0001819	synonymous_variant	0			AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.198C>T	11.37:g.71504464C>T			Q8N5D3	Silent	SNP	ENST00000359244.4	37	CCDS41686.1																																																																																				0.567	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1		NM_152563	
FCGBP	8857	broad.mit.edu	37	19	40363154	40363154	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr19:40363154C>A	ENST00000221347.6	-	32	14923	c.14916G>T	c.(14914-14916)atG>atT	p.M4972I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4972	VWFD 12. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.M4972I(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGGGATGGACATGAGGAGGT	0.627																																																	1	Substitution - Missense(1)	kidney(1)											41.0	45.0	44.0					19																	40363154		2203	4300	6503	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14916G>T	19.37:g.40363154C>A	ENSP00000221347:p.Met4972Ile		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	0.583	-0.836196	0.02692	.	.	ENSG00000090920	ENST00000221347	T	0.55930	0.49	4.9	-9.8	0.00490	von Willebrand factor, type D domain (3);	0.321942	0.25810	N	0.028150	T	0.12774	0.0310	N	0.00583	-1.355	0.09310	N	1	B	0.20052	0.041	B	0.24701	0.055	T	0.28870	-1.0030	10	0.10902	T	0.67	.	10.1087	0.42550	0.0:0.1258:0.4717:0.4025	.	4972	Q9Y6R7	FCGBP_HUMAN	I	4972	ENSP00000221347:M4972I	ENSP00000221347:M4972I	M	-	3	0	FCGBP	45054994	0.000000	0.05858	0.357000	0.25798	0.079000	0.17450	-3.662000	0.00400	-2.867000	0.00324	-0.698000	0.03680	ATG		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1		NM_003890	
FLG2	388698	broad.mit.edu;hgsc.bcm.edu	37	1	152330075	152330075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:152330075G>A	ENST00000388718.5	-	3	259	c.187C>T	c.(187-189)Cga>Tga	p.R63*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	63	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like. {ECO:0000250}.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R63*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGATCTCGATCCAGCATA	0.448																																																	1	Substitution - Nonsense(1)	kidney(1)											111.0	98.0	103.0					1																	152330075		2203	4300	6503	SO:0001587	stop_gained	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.187C>T	1.37:g.152330075G>A	ENSP00000373370:p.Arg63*		Q9H4U1	Nonsense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	36	5.877244	0.97055	.	.	ENSG00000143520	ENST00000388718	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1927	15.1697	0.72862	0.0:0.0:1.0:0.0	.	.	.	.	X	63	.	ENSP00000373370:R63X	R	-	1	2	FLG2	150596699	0.894000	0.30519	1.000000	0.80357	0.993000	0.82548	1.192000	0.32150	2.659000	0.90383	0.557000	0.71058	CGA		0.448	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342	
ANKRD36BP2	645784	broad.mit.edu	37	2	89100619	89100619	+	RNA	SNP	C	C	T	rs75347118		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:89100619C>T	ENST00000393525.3	+	0	1093									ankyrin repeat domain 36B pseudogene 2																		TCAACAGCAACTGGATGATGC	0.373																																																	0																																												0					2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89100619C>T				RNA	SNP	ENST00000393525.3	37																																																																																					0.373	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			
FMNL1	752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	43323619	43323619	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr17:43323619G>T	ENST00000331495.3	+	25	3469	c.3133G>T	c.(3133-3135)Gag>Tag	p.E1045*	MAP3K14-AS1_ENST00000588504.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|FMNL1_ENST00000587489.1_Nonsense_Mutation_p.E623*|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000328118.3_Nonsense_Mutation_p.E1045*|MAP3K14-AS1_ENST00000591263.1_RNA|CTD-2020K17.4_ENST00000591361.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	1045					actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)	p.E1045*(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CCTCATCTCTGAGCTGAAACG	0.567																																					GBM(164;1247 1997 8702 11086 51972)												1	Substitution - Nonsense(1)	kidney(1)											82.0	83.0	83.0					17																	43323619		2203	4300	6503	SO:0001587	stop_gained	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.3133G>T	17.37:g.43323619G>T	ENSP00000329219:p.Glu1045*		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Nonsense_Mutation	SNP	ENST00000331495.3	37	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	G	42	9.597206	0.99216	.	.	ENSG00000184922	ENST00000328118;ENST00000331495	.	.	.	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	16.0407	0.80680	0.0:0.0:1.0:0.0	.	.	.	.	X	1045	.	ENSP00000327442:E1045X	E	+	1	0	FMNL1	40679402	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.753000	0.85153	2.419000	0.82065	0.561000	0.74099	GAG		0.567	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1		NM_005892	
FOXD4	2298	hgsc.bcm.edu	37	9	117696	117696	+	Missense_Mutation	SNP	G	G	A	rs9406415	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr9:117696G>A	ENST00000382500.2	-	1	721	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	142					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AACTTGCGGCGGTAGTAGGGG	0.642																																																	0													41.0	68.0	59.0					9																	117696		2097	4163	6260	SO:0001583	missense	2298			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.424C>T	9.37:g.117696G>A	ENSP00000371940:p.Arg142Cys		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	CCDS34975.1	477	0.2184065934065934	82	0.16666666666666666	67	0.1850828729281768	135	0.23601398601398602	193	0.2546174142480211	.	15.82	2.945410	0.53079	.	.	ENSG00000170122	ENST00000382500	D	0.96491	-4.03	2.24	2.24	0.28232	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.35870	U	0.002927	T	0.00754	0.0025	M	0.94021	3.485	0.09310	P	0.99999602235	D	0.89917	1.0	D	0.81914	0.995	T	0.00289	-1.1844	9	0.56958	D	0.05	.	4.7852	0.13222	0.0:0.2374:0.5208:0.2418	rs9406415	142	Q12950	FOXD4_HUMAN	C	142	ENSP00000371940:R142C	ENSP00000371940:R142C	R	-	1	0	FOXD4	107696	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.314000	0.33597	1.253000	0.44018	0.291000	0.19559	CGC		0.642	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1		NM_207305	
FRY	10129	broad.mit.edu;hgsc.bcm.edu	37	13	32776165	32776165	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr13:32776165G>T	ENST00000380250.3	+	30	4330	c.3834G>T	c.(3832-3834)atG>atT	p.M1278I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1278						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.M1278I(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAATCTCCATGCAGCTCATGC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											132.0	117.0	122.0					13																	32776165		1896	4121	6017	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3834G>T	13.37:g.32776165G>T	ENSP00000369600:p.Met1278Ile		Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040668	0.75732	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.63096	-0.02	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.61862	0.2381	L	0.55481	1.735	0.80722	D	1	B	0.06786	0.001	B	0.16722	0.016	T	0.55016	-0.8206	10	0.36615	T	0.2	.	19.9928	0.97374	0.0:0.0:1.0:0.0	.	1278	Q5TBA9	FRY_HUMAN	I	1278;117	ENSP00000369600:M1278I	ENSP00000369600:M1278I	M	+	3	0	FRY	31674165	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.880000	0.87243	2.745000	0.94114	0.650000	0.86243	ATG		0.373	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1		NM_023037	
GNAS	2778	hgsc.bcm.edu	37	20	57428889	57428889	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr20:57428889G>A	ENST00000371100.4	+	1	1121	c.569G>A	c.(568-570)gGt>gAt	p.G190D	GNAS_ENST00000313949.7_Intron|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Intron|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371099.2_Missense_Mutation_p.G190D|GNAS_ENST00000306120.3_Missense_Mutation_p.V127M|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.G190D|GNAS_ENST00000371075.3_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGAGGCCCAGGTGCTGCAGGG	0.632			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	0													14.0	16.0	15.0					20																	57428889		1896	4113	6009	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.569G>A	20.37:g.57428889G>A	ENSP00000360141:p.Gly190Asp		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.32|11.32	1.603202|1.603202	0.28534|0.28534	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102|ENST00000306120	D;D|.	0.88354|.	-2.37;-2.37|.	4.26|4.26	-0.166|-0.166	0.13351|0.13351	.|.	17.538300|.	0.00903|.	N|.	0.002360|.	T|T	0.37999|0.37999	0.1024|0.1024	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	0.999996|0.999996	D|.	0.64830|.	0.994|.	D|.	0.65010|.	0.931|.	T|T	0.35101|0.35101	-0.9802|-0.9802	10|6	0.17832|0.46703	T|T	0.49|0.11	.|.	4.7953|4.7953	0.13269|0.13269	0.1982:0.3409:0.4609:0.0|0.1982:0.3409:0.4609:0.0	.|.	190|.	Q5JWF2|.	GNAS1_HUMAN|.	D|M	190|127	ENSP00000360141:G190D;ENSP00000360143:G190D|.	ENSP00000360140:G190D|ENSP00000302237:V127M	G|V	+|+	2|1	0|0	GNAS|GNAS	56862284|56862284	0.465000|0.465000	0.25815|0.25815	0.007000|0.007000	0.13788|0.13788	0.866000|0.866000	0.49608|0.49608	0.542000|0.542000	0.23222|0.23222	0.023000|0.023000	0.15187|0.15187	0.655000|0.655000	0.94253|0.94253	GGT|GTG		0.632	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3		NM_000516	
GPRIN1	114787	hgsc.bcm.edu	37	5	176026138	176026138	+	Missense_Mutation	SNP	T	T	A	rs142779818|rs550332435|rs201635586|rs371149640|rs386695335	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr5:176026138T>A	ENST00000303991.4	-	2	875	c.698A>T	c.(697-699)gAg>gTg	p.E233V		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	233				Missing (in Ref. 4; CAD38868). {ECO:0000305}.	neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAGGATCCTCCTTCCTCGG	0.488																																																	0													87.0	88.0	88.0					5																	176026138		2153	4218	6371	SO:0001583	missense	114787			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.698A>T	5.37:g.176026138T>A	ENSP00000305839:p.Glu233Val		C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.897302	0.33535	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.09163	3.01	4.92	2.48	0.30137	.	0.222228	0.23132	N	0.051562	T	0.12561	0.0305	M	0.77103	2.36	0.09310	N	1	B	0.30146	0.27	B	0.31337	0.128	T	0.18429	-1.0337	10	0.40728	T	0.16	-7.1862	3.6069	0.08046	0.1625:0.1858:0.0:0.6517	.	233	Q7Z2K8	GRIN1_HUMAN	V	233	ENSP00000305839:E233V	ENSP00000305839:E233V	E	-	2	0	GPRIN1	175958744	0.024000	0.19004	0.794000	0.32065	0.466000	0.32739	1.906000	0.39887	0.731000	0.32448	0.260000	0.18958	GAG		0.488	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1		NM_052899	
GPRIN2	9721	hgsc.bcm.edu	37	10	46999601	46999601	+	Missense_Mutation	SNP	G	G	A	rs9422022	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr10:46999601G>A	ENST00000374317.1	+	3	994	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	GPRIN2_ENST00000374314.4_Missense_Mutation_p.V241M	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	241			V -> M (in dbSNP:rs9422022).	VR -> MREVG (in Ref. 1; BAA25440 and 3; AAH11672). {ECO:0000305}.						breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CATGAGGGAGGTGAGGGCTGG	0.632													G|||	32	0.00638978	0.0023	0.0014	5008	,	,		31210	0.0139		0.0109	False		,,,				2504	0.0031																0													51.0	53.0	53.0					10																	46999601		2203	4299	6502	SO:0001583	missense	9721			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.721G>A	10.37:g.46999601G>A	ENSP00000363436:p.Val241Met		Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	786	0.3598901098901099	179	0.3638211382113821	126	0.34806629834254144	219	0.38286713286713286	262	0.34564643799472294	G	3.183	-0.167470	0.06461	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03496	3.91;3.91	5.12	-1.64	0.08318	.	1.524420	0.04254	N	0.339078	T	0.00012	0.0000	L	0.34521	1.04	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.46978	-0.9152	10	0.27082	T	0.32	0.3266	1.758	0.02986	0.326:0.1295:0.4122:0.1323	rs9422022	241	O60269	GRIN2_HUMAN	M	241	ENSP00000363436:V241M;ENSP00000363433:V241M	ENSP00000363433:V241M	V	+	1	0	GPRIN2	46419607	0.099000	0.21834	0.004000	0.12327	0.003000	0.03518	0.140000	0.16056	-0.217000	0.10033	-0.498000	0.04607	GTG		0.632	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1		NM_014696	
GXYLT1	283464	hgsc.bcm.edu	37	12	42512967	42512967	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr12:42512967A>T	ENST00000398675.3	-	3	553	c.321T>A	c.(319-321)agT>agA	p.S107R	GXYLT1_ENST00000280876.6_Missense_Mutation_p.S76R	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	107					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						GTATTTTCAGACTGTACCTAA	0.363																																																	0													84.0	77.0	79.0					12																	42512967		1887	4120	6007	SO:0001583	missense	283464			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.321T>A	12.37:g.42512967A>T	ENSP00000381666:p.Ser107Arg		B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	A	3.804	-0.041095	0.07452	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	.	.	.	5.73	-0.0214	0.13951	.	13.484300	0.00166	N	0.000000	T	0.17238	0.0414	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.16217	-1.0410	9	0.16420	T	0.52	0.0014	6.6682	0.23054	0.6919:0.0:0.1958:0.1123	.	76;107	Q4G148-2;Q4G148	.;GXLT1_HUMAN	R	107;76	.	ENSP00000280876:S76R	S	-	3	2	GXYLT1	40799234	0.001000	0.12720	0.003000	0.11579	0.400000	0.30750	0.574000	0.23714	0.117000	0.18138	0.482000	0.46254	AGT		0.363	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1		XM_290597	
RP3-470B24.5	0	hgsc.bcm.edu	37	6	168376866	168376866	+	lincRNA	SNP	T	T	C	rs71305249|rs2015545	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr6:168376866T>C	ENST00000538528.1	-	0	753																											GTGGGGGTCATTCCCCCTGCA	0.602													T|||	2184	0.436102	0.3442	0.4352	5008	,	,		20092	0.6062		0.3419	False		,,,				2504	0.4826																0													31.0	28.0	29.0					6																	168376866		692	1591	2283			100128124																															6.37:g.168376866T>C				Missense_Mutation	SNP	ENST00000538528.1	37																																																																																					0.602	RP3-470B24.5-201	KNOWN	basic	lincRNA	lincRNA				
RP3-470B24.5	0	hgsc.bcm.edu	37	6	168376869	168376869	+	lincRNA	SNP	C	C	T	rs71305249|rs201374833	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr6:168376869C>T	ENST00000538528.1	-	0	750																											GGGGTCATTCCCCCTGCAGTG	0.602													C|||	1272	0.253994	0.1241	0.2536	5008	,	,		19408	0.4167		0.2445	False		,,,				2504	0.272																0													30.0	27.0	28.0					6																	168376869		692	1591	2283			100128124																															6.37:g.168376869C>T				Missense_Mutation	SNP	ENST00000538528.1	37																																																																																					0.602	RP3-470B24.5-201	KNOWN	basic	lincRNA	lincRNA				
RP3-470B24.5	0	broad.mit.edu	37	6	168376953	168376953	+	lincRNA	SNP	A	A	C	rs2516607|rs71305246	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr6:168376953A>C	ENST00000538528.1	-	0	666																											GGGGGTCATTACCCCTGCAGT	0.642													N|||	2843	0.567692	0.4508	0.5677	5008	,	,		17661	0.8006		0.4205	False		,,,				2504	0.637																0													20.0	18.0	19.0					6																	168376953		692	1591	2283			100128124																															6.37:g.168376953A>C				Missense_Mutation	SNP	ENST00000538528.1	37																																																																																					0.642	RP3-470B24.5-201	KNOWN	basic	lincRNA	lincRNA				
HNRNPCL1	343069	hgsc.bcm.edu	37	1	12907781	12907781	+	Missense_Mutation	SNP	T	T	C	rs28441396	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:12907781T>C	ENST00000317869.6	-	2	587	c.362A>G	c.(361-363)gAt>gGt	p.D121G		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	121						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GTACATTCCATCATAATAATC	0.502													.|||	3	0.000599042	0.0	0.0014	5008	,	,		18869	0.002		0.0	False		,,,				2504	0.0																0													82.0	79.0	80.0					1																	12907781		2203	4299	6502	SO:0001583	missense	343069			BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.362A>G	1.37:g.12907781T>C	ENSP00000365370:p.Asp121Gly		B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	12.04	1.818753	0.32145	.	.	ENSG00000179172	ENST00000317869	T	0.11604	2.76	1.09	-1.98	0.07480	.	0.000000	0.56097	U	0.000029	T	0.10637	0.0260	M	0.69823	2.125	0.22127	P	0.999342631	B	0.27765	0.188	B	0.29267	0.1	T	0.06320	-1.0833	9	0.46703	T	0.11	.	4.8557	0.13557	0.0:0.4237:0.0:0.5763	rs28441396	121	O60812	HNRCL_HUMAN	G	121	ENSP00000365370:D121G	ENSP00000365370:D121G	D	-	2	0	HNRNPCL1	12830368	1.000000	0.71417	0.010000	0.14722	0.001000	0.01503	1.515000	0.35845	-0.980000	0.03524	-1.328000	0.01277	GAT		0.502	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1		NM_001013631	
HHIPL2	79802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	222705449	222705449	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:222705449G>T	ENST00000343410.6	-	6	1640	c.1582C>A	c.(1582-1584)Ctt>Att	p.L528I		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	528					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.L528I(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AAAGCCATAAGTCGACTAGAC	0.438																																																	1	Substitution - Missense(1)	kidney(1)											55.0	57.0	56.0					1																	222705449		2203	4300	6503	SO:0001583	missense	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1582C>A	1.37:g.222705449G>T	ENSP00000342118:p.Leu528Ile		Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602483	0.66445	.	.	ENSG00000143512	ENST00000343410	T	0.08896	3.04	5.0	4.09	0.47781	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Glucose/Sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.075098	0.52532	D	0.000067	T	0.12092	0.0294	L	0.28192	0.835	0.43107	D	0.994803	P	0.50156	0.932	P	0.55087	0.768	T	0.16453	-1.0402	10	0.27785	T	0.31	-16.2726	12.8232	0.57704	0.0796:0.0:0.9204:0.0	.	528	Q6UWX4	HIPL2_HUMAN	I	528	ENSP00000342118:L528I	ENSP00000342118:L528I	L	-	1	0	HHIPL2	220772072	0.985000	0.35326	1.000000	0.80357	0.985000	0.73830	1.714000	0.37961	1.091000	0.41335	0.591000	0.81541	CTT		0.438	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2		NM_024746	
HOXD3	3232	broad.mit.edu;ucsc.edu|broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	177033940	177033941	+	Missense_Mutation	DNP	GC	GC	CT	rs373609882		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx|Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:177033940_177033941GC>CT	ENST00000468418.3	+	3	2188_2189	c.98_99GC>CT	c.(97-99)gGC>gCT	p.G33A	HOXD3_ENST00000410016.1_Missense_Mutation_p.G33A|HOXD3_ENST00000249440.3_Missense_Mutation_p.G33A			P31249	HXD3_HUMAN	homeobox D3	33					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G33A(1)|p.G33G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GGAGGCTATGGCTACAGCAAAA	0.554																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	3232				CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	Exception_encountered	2.37:g.177033940_177033941delinsCT	ENSP00000424734:p.Gly33Ala		Q99955|Q9BSC5	Missense_Mutation|Silent	SNP	ENST00000468418.3	37	CCDS2270.1																																																																																				0.554	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			
INSC	387755	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	15222420	15222420	+	Silent	SNP	G	G	C			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:15222420G>C	ENST00000379554.3	+	7	931	c.885G>C	c.(883-885)cgG>cgC	p.R295R	INSC_ENST00000530161.1_Silent_p.R248R|INSC_ENST00000379556.3_Silent_p.R248R|INSC_ENST00000447214.2_Intron|INSC_ENST00000424273.1_Intron|INSC_ENST00000525218.1_Intron|INSC_ENST00000528567.1_Silent_p.R248R	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	295					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.R295R(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACAGTTTCCGGTGCTTGTACC	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											89.0	89.0	89.0					11																	15222420		2071	4228	6299	SO:0001819	synonymous_variant	387755			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.885G>C	11.37:g.15222420G>C			A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Silent	SNP	ENST00000379554.3	37	CCDS41621.1																																																																																				0.587	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1		NM_001031853	
IPO8	10526	hgsc.bcm.edu	37	12	30790090	30790090	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr12:30790090G>T	ENST00000256079.4	-	22	2859	c.2521C>A	c.(2521-2523)Ctg>Atg	p.L841M	IPO8_ENST00000544829.1_Missense_Mutation_p.L636M	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	841					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGGATACTCAGTCCTATTATA	0.388																																																	0													131.0	118.0	122.0					12																	30790090		2203	4300	6503	SO:0001583	missense	10526			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2521C>A	12.37:g.30790090G>T	ENSP00000256079:p.Leu841Met		B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280174	0.59758	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.74315	-0.83;-0.83	5.36	2.44	0.29823	Armadillo-like helical (1);Armadillo-type fold (1);	0.140875	0.49305	N	0.000145	D	0.84781	0.5548	M	0.87547	2.89	0.52501	D	0.999957	D;D;D	0.89917	0.999;1.0;0.989	D;D;D	0.91635	0.982;0.999;0.915	T	0.82222	-0.0564	10	0.54805	T	0.06	-6.5897	7.1419	0.25560	0.1337:0.0:0.6221:0.2442	.	636;317;841	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	M	841;317;636	ENSP00000256079:L841M;ENSP00000444520:L636M	ENSP00000256079:L841M	L	-	1	2	IPO8	30681357	1.000000	0.71417	0.983000	0.44433	0.856000	0.48823	3.275000	0.51639	0.295000	0.22570	0.650000	0.86243	CTG		0.388	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2		NM_006390	
ISY1	57461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	128848936	128848936	+	Silent	SNP	G	G	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:128848936G>A	ENST00000393295.3	-	11	1163	c.846C>T	c.(844-846)ctC>ctT	p.L282L	ISY1-RAB43_ENST00000418265.1_Silent_p.L282L|ISY1_ENST00000273541.8_Silent_p.L304L|ISY1_ENST00000393292.3_3'UTR|ISY1_ENST00000471497.1_5'UTR	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	282					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)	p.L282L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						AATACCCCAGGAGCCTTCTGG	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											89.0	93.0	92.0					3																	128848936		1883	4104	5987	SO:0001819	synonymous_variant	57461				CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 33"""	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.846C>T	3.37:g.128848936G>A			Q96IL2|Q9BT05	Silent	SNP	ENST00000393295.3	37	CCDS43149.1																																																																																				0.577	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1		NM_020701	
JMJD7	100137047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42128715	42128715	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr15:42128715C>T	ENST00000397299.4	+	6	708	c.668C>T	c.(667-669)aCc>aTc	p.T223I	JMJD7-PLA2G4B_ENST00000476036.1_3'UTR|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.T223I|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.T223I|PLA2G4B_ENST00000458483.1_5'Flank|JMJD7_ENST00000408047.1_Missense_Mutation_p.T124I|PLA2G4B_ENST00000452633.1_5'Flank|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.T223I	NM_001114632.1	NP_001108104.1	P0C870	JMJD7_HUMAN	jumonji domain containing 7	223	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.							p.T223I(3)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						GAAGAGGGCACCTTTAAGGTG	0.567																																																	3	Substitution - Missense(3)	kidney(3)											68.0	61.0	63.0					15																	42128715		2201	4298	6499	SO:0001583	missense	100137047				CCDS45240.1	15q15.1	2011-02-10			ENSG00000243789	ENSG00000243789			34397	protein-coding gene	gene with protein product							Standard	NM_001114632		Approved			P0C870	OTTHUMG00000156810	ENST00000397299.4:c.668C>T	15.37:g.42128715C>T	ENSP00000380467:p.Thr223Ile		A5D6V5|O95712|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000397299.4	37	CCDS45240.1	.	.	.	.	.	.	.	.	.	.	.	15.14	2.743567	0.49151	.	.	ENSG00000243789;ENSG00000243789;ENSG00000243789;ENSG00000243789;ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000168970	ENST00000397299;ENST00000408047;ENST00000431823;ENST00000405106;ENST00000542534;ENST00000335032;ENST00000382448;ENST00000342159	T;T;T;T;T	0.44881	1.45;0.91;1.45;1.93;1.93	5.15	5.15	0.70609	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.246709	0.28834	N	0.013994	T	0.29458	0.0734	N	0.22421	0.69	0.25732	N	0.985254	B;B;B	0.30146	0.27;0.217;0.026	B;B;B	0.29716	0.106;0.047;0.026	T	0.20405	-1.0276	10	0.41790	T	0.15	-6.0391	11.6156	0.51088	0.1775:0.8225:0.0:0.0	.	223;223;223	P0C869-7;P0C869-6;P0C870	.;.;JMJD7_HUMAN	I	223;124;124;124;223;143;223;223	ENSP00000380467:T223I;ENSP00000384174:T124I;ENSP00000441905:T223I;ENSP00000371886:T223I;ENSP00000342785:T223I	ENSP00000380467:T223I	T	+	2	0	JMJD7-PLA2G4B;JMJD7	39916007	0.004000	0.15560	1.000000	0.80357	0.968000	0.65278	0.827000	0.27421	2.562000	0.86427	0.561000	0.74099	ACC		0.567	JMJD7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326082.1		NM_001114632	
KDM4A	9682	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	44159696	44159696	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:44159696delC	ENST00000372396.3	+	17	2541	c.2407delC	c.(2407-2409)ctgfs	p.L803fs		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	803					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TGTGGCAATTCTGGAAGCAAG	0.532																																																	0													112.0	94.0	100.0					1																	44159696		2203	4300	6503	SO:0001589	frameshift_variant	9682			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2407delC	1.37:g.44159696delC	ENSP00000361473:p.Leu803fs		Q5VVB1	Frame_Shift_Del	DEL	ENST00000372396.3	37	CCDS491.1																																																																																				0.532	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1		NM_014663	
KLHL31	401265	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	53516418	53516418	+	Missense_Mutation	SNP	G	G	T	rs12204882		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr6:53516418G>T	ENST00000407079.1	-	2	1882	c.1883C>A	c.(1882-1884)tCt>tAt	p.S628Y	KLHL31_ENST00000370905.3_Missense_Mutation_p.S628Y			Q9H511	KLH31_HUMAN	kelch-like family member 31	628					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.S628Y(1)		autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TGGCACAGAAGATACCGAACT	0.572											OREG0017507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											95.0	88.0	91.0					6																	53516418		2203	4300	6503	SO:0001583	missense	401265				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1883C>A	6.37:g.53516418G>T	ENSP00000384644:p.Ser628Tyr	993	A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662855	0.67700	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.70631	-0.5;-0.5	5.87	5.87	0.94306	.	0.051462	0.85682	D	0.000000	T	0.70378	0.3217	L	0.50333	1.59	0.80722	D	1	D	0.55385	0.971	P	0.50440	0.641	T	0.71481	-0.4580	10	0.59425	D	0.04	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	628	Q9H511	KLH31_HUMAN	Y	628	ENSP00000359942:S628Y;ENSP00000384644:S628Y	ENSP00000359942:S628Y	S	-	2	0	KLHL31	53624377	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	9.805000	0.99149	2.941000	0.99782	0.655000	0.94253	TCT		0.572	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1		NM_001003760	
KRT3	3850	hgsc.bcm.edu	37	12	53189410	53189410	+	Silent	SNP	A	A	C	rs529558333	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr12:53189410A>C	ENST00000417996.2	-	1	491	c.417T>G	c.(415-417)ggT>ggG	p.G139G	KRT3_ENST00000309505.3_Silent_p.G139G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	139	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						agccaccaggaccaccaaagc	0.632													A|||	15	0.00299521	0.0023	0.0014	5008	,	,		10730	0.0069		0.001	False		,,,				2504	0.0031																0													158.0	201.0	186.0					12																	53189410		2182	4268	6450	SO:0001819	synonymous_variant	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.417T>G	12.37:g.53189410A>C			A6NIS2|Q701L8	Silent	SNP	ENST00000417996.2	37	CCDS44895.1																																																																																				0.632	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1		NM_057088	
KRT3	3850	hgsc.bcm.edu	37	12	53189428	53189428	+	Silent	SNP	C	C	A	rs148531142|rs184322044		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr12:53189428C>A	ENST00000417996.2	-	1	473	c.399G>T	c.(397-399)ggG>ggT	p.G133G	KRT3_ENST00000309505.3_Silent_p.G133G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	133	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						agccaccagcccctccaaagc	0.632																																																	0													141.0	187.0	172.0					12																	53189428		2177	4259	6436	SO:0001819	synonymous_variant	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.399G>T	12.37:g.53189428C>A			A6NIS2|Q701L8	Silent	SNP	ENST00000417996.2	37	CCDS44895.1																																																																																				0.632	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1		NM_057088	
KRTAP4-8	728224	hgsc.bcm.edu	37	17	39254247	39254247	+	Nonsense_Mutation	SNP	A	A	T	rs137943557	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr17:39254247A>T	ENST00000333822.4	-	1	146	c.90T>A	c.(88-90)tgT>tgA	p.C30*		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	30	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						AGGTGGTCTGACAGCAGCTGG	0.632													A|||	80	0.0159744	0.0008	0.0202	5008	,	,		16884	0.0		0.0447	False		,,,				2504	0.0204																0								A	stop/CYS	11,1373		0,11,681	23.0	25.0	25.0		90	-1.6	0.2	17	dbSNP_134	25	141,3041		4,133,1454	no	stop-gained	KRTAP4-8	NM_031960.2		4,144,2135	TT,TA,AA		4.4312,0.7948,3.329		30/186	39254247	152,4414	692	1591	2283	SO:0001587	stop_gained	728224			AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.90T>A	17.37:g.39254247A>T	ENSP00000328444:p.Cys30*		A8MSH3	Nonsense_Mutation	SNP	ENST00000333822.4	37	CCDS45674.1	40	0.018315018315018316	0	0.0	6	0.016574585635359115	0	0.0	34	0.044854881266490766	.	12.05	1.821859	0.32237	0.007948	0.044312	ENSG00000204880	ENST00000333822;ENST00000332991	.	.	.	3.56	-1.56	0.08532	.	0.122142	0.37348	U	0.002137	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7326	0.18049	0.3:0.1451:0.5549:0.0	.	.	.	.	X	30	.	ENSP00000414561:C30X	C	-	3	2	KRTAP4-8	36507773	0.004000	0.15560	0.165000	0.22776	0.234000	0.25298	-0.095000	0.11077	-0.555000	0.06142	-1.744000	0.00683	TGT		0.632	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1		NM_031960	
L1TD1	54596	hgsc.bcm.edu	37	1	62672389	62672390	+	In_Frame_Ins	INS	-	-	AACAGA	rs374688773|rs150799576	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:62672389_62672390insAACAGA	ENST00000498273.1	+	3	384_385	c.89_90insAACAGA	c.(88-93)ttaaca>ttAACAGAaaca	p.33_34insET		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	33										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						agagagcagttaacagaaactg	0.327														173	0.0345447	0.084	0.0159	5008	,	,		18275	0.001		0.0258	False		,,,				2504	0.0245																0									,	271,3517		14,243,1637					,	1.0	0.0		dbSNP_134	24	117,7287		5,107,3590	no	coding,coding	L1TD1	NM_019079.4,NM_001164835.1	,	19,350,5227	A1A1,A1R,RR		1.5802,7.1542,3.4668	,	,		388,10804				SO:0001652	inframe_insertion	54596			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.90_95dupAACAGA	1.37:g.62672390_62672395dupAACAGA	ENSP00000419901:p.Glu32_Thr33dup		Q8NDA1|Q9NUV8|Q9NV78	In_Frame_Ins	INS	ENST00000498273.1	37	CCDS619.1																																																																																				0.327	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1		NM_019079	
LIMS1	3987	broad.mit.edu	37	2	109293101	109293101	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:109293101C>T	ENST00000393310.1	+	7	852	c.685C>T	c.(685-687)Cat>Tat	p.H229Y	LIMS1_ENST00000338045.3_Missense_Mutation_p.H229Y|LIMS1_ENST00000332345.6_Missense_Mutation_p.H229Y|LIMS1_ENST00000410093.1_Missense_Mutation_p.H233Y|LIMS1_ENST00000542845.1_Missense_Mutation_p.H291Y|AC010095.5_ENST00000411710.1_RNA|LIMS1_ENST00000544547.1_Missense_Mutation_p.H241Y|LIMS1_ENST00000409441.1_Missense_Mutation_p.H266Y	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	229	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)	p.H291Y(1)|p.H229Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						CTTTCTTGGACATCGCCATTA	0.348																																																	2	Substitution - Missense(2)	kidney(2)											32.0	26.0	28.0					2																	109293101		2108	3921	6029	SO:0001583	missense	3987				CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.685C>T	2.37:g.109293101C>T	ENSP00000376987:p.His229Tyr		B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Missense_Mutation	SNP	ENST00000393310.1	37	CCDS2078.1	.	.	.	.	.	.	.	.	.	.	c	28.5	4.929914	0.92389	.	.	ENSG00000169756	ENST00000544547;ENST00000332345;ENST00000393310;ENST00000410093;ENST00000409441;ENST00000338045;ENST00000542845	D;D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	5.72	5.72	0.89469	Zinc finger, LIM-type (4);	0.000000	0.64402	D	0.000001	D	0.91136	0.7209	L	0.42529	1.33	0.80722	D	1	D;D;D;D	0.69078	0.997;0.967;0.985;0.985	D;P;P;P	0.66351	0.943;0.904;0.904;0.904	D	0.91352	0.5105	10	0.66056	D	0.02	.	19.8885	0.96919	0.0:1.0:0.0:0.0	.	291;266;229;241	B7Z7R3;B7Z907;P48059;B7Z483	.;.;LIMS1_HUMAN;.	Y	241;229;229;233;266;229;291	ENSP00000437912:H241Y;ENSP00000331775:H229Y;ENSP00000376987:H229Y;ENSP00000386926:H233Y;ENSP00000387264:H266Y;ENSP00000337598:H229Y;ENSP00000446121:H291Y	ENSP00000331775:H229Y	H	+	1	0	LIMS1	108659533	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.794000	0.85869	2.700000	0.92200	0.563000	0.77884	CAT		0.348	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1		NM_004987	
LOC645752	645752	broad.mit.edu	37	15	78208239	78208239	+	lincRNA	SNP	T	T	C	rs74587726	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr15:78208239T>C	ENST00000565869.1	+	0	0				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CCGTCCCATCTGCCTTCTCCT	0.597													C|||	813	0.16234	0.1498	0.1744	5008	,	,		17273	0.1101		0.2406	False		,,,				2504	0.1442																0																																												645752																															15.37:g.78208239T>C				Silent	SNP	ENST00000565869.1	37																																																																																					0.597	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			
LPHN1	22859	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14268697	14268697	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr19:14268697C>G	ENST00000340736.6	-	14	2844	c.2547G>C	c.(2545-2547)gaG>gaC	p.E849D	CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.E844D	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	849	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.E849D(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCTTACGATCTCACGGTGAG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											107.0	81.0	90.0					19																	14268697		2203	4300	6503	SO:0001583	missense	22859			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2547G>C	19.37:g.14268697C>G	ENSP00000340688:p.Glu849Asp		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301275	0.23650	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.70282	-0.47;-0.47	4.87	2.74	0.32292	GPS domain (2);	0.060681	0.64402	D	0.000005	T	0.50922	0.1644	N	0.19112	0.55	0.33275	D	0.561574	B;B	0.14012	0.008;0.009	B;B	0.19666	0.026;0.008	T	0.51896	-0.8647	10	0.46703	T	0.11	.	5.3822	0.16197	0.0:0.649:0.166:0.1849	.	844;849	O94910-2;O94910	.;LPHN1_HUMAN	D	849;844	ENSP00000340688:E849D;ENSP00000355328:E844D	ENSP00000340688:E849D	E	-	3	2	LPHN1	14129697	0.997000	0.39634	1.000000	0.80357	0.740000	0.42216	0.467000	0.22035	0.580000	0.29522	0.491000	0.48974	GAG		0.622	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1		NM_014921	
MED27	9442	broad.mit.edu	37	9	134735980	134735980	+	Missense_Mutation	SNP	G	G	A	rs557626461	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr9:134735980G>A	ENST00000292035.5	-	8	944	c.881C>T	c.(880-882)cCg>cTg	p.P294L	MED27_ENST00000357028.2_Missense_Mutation_p.P258L	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	294					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.P294L(4)|p.P294fs*>18(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CCTCCATGTCGGGGGAAGGCC	0.597													G|||	40	0.00798722	0.003	0.0072	5008	,	,		18345	0.0		0.0169	False		,,,				2504	0.0143				Colon(41;784 923 6932 42329 52483)												5	Substitution - Missense(4)|Deletion - Frameshift(1)	endometrium(2)|kidney(2)|large_intestine(1)											30.0	29.0	29.0					9																	134735980		2203	4300	6503	SO:0001583	missense	9442			AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"""cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"""	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.881C>T	9.37:g.134735980G>A	ENSP00000292035:p.Pro294Leu		O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Missense_Mutation	SNP	ENST00000292035.5	37	CCDS6945.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095595	0.94197	.	.	ENSG00000160563	ENST00000292035;ENST00000357028;ENST00000372184	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.84014	0.5379	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	D	0.86894	0.2050	9	0.87932	D	0	-0.1478	16.105	0.81213	0.0:0.0:1.0:0.0	.	258;294	Q6P2C8-2;Q6P2C8	.;MED27_HUMAN	L	294;220;258	.	ENSP00000292035:P294L	P	-	2	0	MED27	133725801	1.000000	0.71417	0.949000	0.38748	0.987000	0.75469	7.762000	0.85270	2.472000	0.83506	0.655000	0.94253	CCG		0.597	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2		NM_004269	
MMP25	64386	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	3100414	3100414	+	Silent	SNP	C	C	T	rs371570478		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr16:3100414C>T	ENST00000336577.4	+	4	765	c.528C>T	c.(526-528)cgC>cgT	p.R176R	RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	187					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R176R(1)|p.R100R(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	ACTTTGCCCGCGCCTTCCACC	0.637																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)												2	Substitution - coding silent(2)	kidney(2)						C		1,4393	2.1+/-5.4	0,1,2196	50.0	47.0	48.0		528	1.9	1.0	16		48	0,8600		0,0,4300	no	coding-synonymous	MMP25	NM_022468.4		0,1,6496	TT,TC,CC		0.0,0.0228,0.0077		176/563	3100414	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	64386			AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.528C>T	16.37:g.3100414C>T			Q96F04|Q96TE2	Silent	SNP	ENST00000336577.4	37	CCDS10492.1																																																																																				0.637	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1		NM_022468	
MPHOSPH10	10199	broad.mit.edu;hgsc.bcm.edu	37	2	71360677	71360677	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:71360677G>T	ENST00000244230.2	+	2	1091	c.739G>T	c.(739-741)Ggg>Tgg	p.G247W	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.G247W	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	247					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)	p.G247W(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TGAAGATGAAGGGGGACTGTT	0.333																																																	1	Substitution - Missense(1)	kidney(1)											69.0	76.0	74.0					2																	71360677		2202	4298	6500	SO:0001583	missense	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.739G>T	2.37:g.71360677G>T	ENSP00000244230:p.Gly247Trp		A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	9.854	1.194517	0.22037	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.20332	2.7;2.08	4.88	4.0	0.46444	.	0.843870	0.10726	N	0.641135	T	0.47619	0.1455	M	0.78049	2.395	0.09310	N	1	D;D	0.76494	0.999;0.997	D;D	0.79784	0.993;0.936	T	0.26916	-1.0089	10	0.66056	D	0.02	.	11.507	0.50472	0.0898:0.0:0.9102:0.0	.	247;247	B3KPV5;O00566	.;MPP10_HUMAN	W	247;107	ENSP00000244230:G247W;ENSP00000393034:G107W	ENSP00000244230:G247W	G	+	1	0	MPHOSPH10	71214185	0.987000	0.35691	0.003000	0.11579	0.021000	0.10359	3.862000	0.56009	1.205000	0.43262	-0.439000	0.05793	GGG		0.333	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2		NM_005791	
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11188078	11188078	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:11188078C>G	ENST00000361445.4	-	43	6092	c.6016G>C	c.(6016-6018)Gtc>Ctc	p.V2006L	MTOR_ENST00000376838.1_Missense_Mutation_p.V211L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2006					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.V2006L(1)|p.V2006F(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GCCTGCTGGACCAGGGTGTTG	0.552																																																	2	Substitution - Missense(2)	kidney(2)											117.0	117.0	117.0					1																	11188078		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6016G>C	1.37:g.11188078C>G	ENSP00000354558:p.Val2006Leu		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247105	0.95305	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.78924	-1.22;-1.22	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.89403	0.6705	H	0.95611	3.695	0.80722	D	1	D	0.61080	0.989	P	0.51516	0.672	D	0.92193	0.5761	10	0.87932	D	0	-25.2415	20.063	0.97692	0.0:1.0:0.0:0.0	.	2006	P42345	MTOR_HUMAN	L	2006;211	ENSP00000354558:V2006L;ENSP00000366034:V211L	ENSP00000354558:V2006L	V	-	1	0	MTOR	11110665	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.456000	0.80751	2.735000	0.93741	0.655000	0.94253	GTC		0.552	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		NM_004958	
Unknown	0	broad.mit.edu	37	1	16975495	16975495	+	IGR	SNP	T	T	C	rs199672680	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:16975495T>C								CROCCP2 (14441 upstream) : RNU1-3 (17784 downstream)																							CTTGCGGAATTGGTGAGGCAC	0.612													.|||	2809	0.560903	0.4584	0.6268	5008	,	,		29458	0.7004		0.5159	False		,,,				2504	0.5552																0																																										SO:0001628	intergenic_variant	11209																															1.37:g.16975495T>C				RNA	SNP		37																																																																																				0	0.612									
MUC16	94025	hgsc.bcm.edu	37	19	8999488	8999488	+	Missense_Mutation	SNP	C	C	T	rs200071553		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr19:8999488C>T	ENST00000397910.4	-	56	40890	c.40687G>A	c.(40687-40689)Gac>Aac	p.D13563N	MUC16_ENST00000380951.5_Missense_Mutation_p.D204N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13565	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTCTCTGTCCAGTCCAGGG	0.587																																																	0																																										SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40687G>A	19.37:g.8999488C>T	ENSP00000381008:p.Asp13563Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.703|8.703	0.910124|0.910124	0.17833|0.17833	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.45668|.	0.89;0.89|.	3.48|3.48	1.27|1.27	0.21489|0.21489	SEA (2);|.	.|.	.|.	.|.	.|.	T|.	0.44052|.	0.1275|.	L|L	0.52573|0.52573	1.65|1.65	.|.	.|.	.|.	B;D|.	0.58268|.	0.006;0.982|.	B;D|.	0.70227|.	0.013;0.968|.	T|.	0.50406|.	-0.8832|.	8|.	0.45353|.	T|.	0.12|.	-16.659|-16.659	5.989|5.989	0.19450|0.19450	0.0:0.7471:0.0:0.2529|0.0:0.7471:0.0:0.2529	.|.	21208;13563|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	N|X	13563;204|402	ENSP00000381008:D13563N;ENSP00000370338:D204N|.	ENSP00000370338:D204N|.	D|W	-|-	1|3	0|0	MUC16|MUC16	8860488|8860488	1.000000|1.000000	0.71417|0.71417	0.784000|0.784000	0.31847|0.31847	0.011000|0.011000	0.07611|0.07611	1.442000|1.442000	0.35046|0.35046	0.307000|0.307000	0.22880|0.22880	-0.234000|-0.234000	0.12200|0.12200	GAC|TGG		0.587	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9089241	9089241	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr19:9089241A>C	ENST00000397910.4	-	1	2777	c.2574T>G	c.(2572-2574)caT>caG	p.H858Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	858	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.H858Q(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTAAATAGATGAGTGGAAG	0.468																																																	2	Substitution - Missense(2)	kidney(2)											89.0	87.0	87.0					19																	9089241		1925	4124	6049	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2574T>G	19.37:g.9089241A>C	ENSP00000381008:p.His858Gln		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	2.164	-0.391469	0.04932	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	1.45	0.396	0.16309	.	.	.	.	.	T	0.01940	0.0061	N	0.19112	0.55	.	.	.	P	0.50710	0.938	B	0.40506	0.331	T	0.45745	-0.9240	8	0.87932	D	0	.	3.2167	0.06701	0.7462:0.0:0.2538:0.0	.	858	B5ME49	.	Q	858	ENSP00000381008:H858Q	ENSP00000381008:H858Q	H	-	3	2	MUC16	8950241	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.413000	0.07123	0.059000	0.16252	0.172000	0.16884	CAT		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
MUC2	4583	hgsc.bcm.edu	37	11	1092996	1092996	+	Silent	SNP	C	C	A	rs61724525		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:1092996C>A	ENST00000441003.2	+	30	4842	c.4815C>A	c.(4813-4815)acC>acA	p.T1605T	MUC2_ENST00000359061.5_Intron|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	agaccccaaccacgacaccca	0.627																																																	0																																										SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4815C>A	11.37:g.1092996C>A			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2		NM_002457	
MUC2	4583	broad.mit.edu;hgsc.bcm.edu	37	11	1093272	1093272	+	Silent	SNP	A	A	C	rs56230143		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:1093272A>C	ENST00000441003.2	+	30	5118	c.5091A>C	c.(5089-5091)acA>acC	p.T1697T	MUC2_ENST00000359061.5_Silent_p.T1664T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.T1664T(2)|p.T1697T(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	agaccccaacatcgacaccca	0.637																																																	4	Substitution - coding silent(4)	kidney(2)|endometrium(2)											128.0	167.0	153.0					11																	1093272		1845	3351	5196	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5091A>C	11.37:g.1093272A>C			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2		NM_002457	
MUC2	4583	hgsc.bcm.edu	37	11	1093569	1093569	+	Silent	SNP	A	A	C	rs72842460	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:1093569A>C	ENST00000441003.2	+	30	5415	c.5388A>C	c.(5386-5388)acA>acC	p.T1796T	MUC2_ENST00000359061.5_Silent_p.T1752T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.T84T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	tcaccaccacaactacGGTGA	0.587																																																	0													87.0	116.0	106.0					11																	1093569		2190	4268	6458	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5388A>C	11.37:g.1093569A>C			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.587	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2		NM_002457	
MUC4	4585	broad.mit.edu	37	3	195509182	195509182	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:195509182G>T	ENST00000463781.3	-	2	9728	c.9269C>A	c.(9268-9270)cCt>cAt	p.P3090H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P3090H|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.P3090H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGGTGACAGGAAGAGGGGT	0.597																																																	1	Substitution - Missense(1)	kidney(1)											14.0	11.0	12.0					3																	195509182		666	1550	2216	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9269C>A	3.37:g.195509182G>T	ENSP00000417498:p.Pro3090His		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	0.179	-1.064045	0.01934	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.34072	1.38;1.39	.	.	.	.	.	.	.	.	T	0.30008	0.0751	N	0.19112	0.55	0.22017	N	0.99942	D	0.54964	0.969	P	0.52710	0.707	T	0.12785	-1.0534	7	.	.	.	.	6.7489	0.23475	3.0E-4:0.0:0.9997:0.0	.	2962	E7ESK3	.	H	3090	ENSP00000417498:P3090H;ENSP00000420243:P3090H	.	P	-	2	0	MUC4	196993961	0.145000	0.22656	0.007000	0.13788	0.000000	0.00434	1.993000	0.40747	0.497000	0.27926	0.000000	0.15137	CCT		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu;hgsc.bcm.edu	37	3	195513539	195513541	+	Missense_Mutation	TNP	CAT	CAT	GGC	rs199815621|rs201447574|rs200329971	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C|A|T	C|A|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:195513539_195513541CAT>GGC	ENST00000463781.3	-	2	5369_5371	c.4910_4912ATG>GCC	c.(4909-4914)aATGct>aGCCct	p.1637_1638NA>SP	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.1637_1638NA>SP|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.N1637_T1652delNASSLSTGHATPLHVT(2)|p.A1638P(1)|p.N1637N(1)|p.N1637S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AATGAGGAAGCATTGGTGACAGG	0.576																																																	5	Substitution - Missense(2)|Deletion - In frame(2)|Substitution - coding silent(1)	kidney(3)|stomach(2)																																								SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4910_4912ATG>GCC	3.37:g.195513539CAT>GGC	ENSP00000417498:p.N1637_A1638delinsSP		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation|Silent|Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.576	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195513398	195513398	+	Missense_Mutation	SNP	C	C	T	rs376864964	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:195513398C>T	ENST00000463781.3	-	2	5512	c.5053G>A	c.(5053-5055)Ggc>Agc	p.G1685S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G1685S|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAAGGCCGGTGACAGGA	0.617													.|||	29	0.00579073	0.0038	0.0	5008	,	,		21303	0.0129		0.006	False		,,,				2504	0.0051																0													32.0	36.0	35.0					3																	195513398		683	1581	2264	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5053G>A	3.37:g.195513398C>T	ENSP00000417498:p.Gly1685Ser		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	4.347	0.063909	0.08388	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31247	1.5;1.53	.	.	.	.	.	.	.	.	T	0.13243	0.0321	N	0.19112	0.55	0.09310	N	1	B	0.17268	0.021	B	0.01281	0.0	T	0.22487	-1.0215	7	.	.	.	.	2.2023	0.03927	0.0:0.3379:0.3332:0.3289	.	1685	E7ESK3	.	S	1685	ENSP00000417498:G1685S;ENSP00000420243:G1685S	.	G	-	1	0	MUC4	196997793	0.000000	0.05858	0.014000	0.15608	0.007000	0.05969	-0.458000	0.06737	-1.862000	0.01151	-1.862000	0.00560	GGC		0.617	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195513445	195513445	+	Missense_Mutation	SNP	C	C	T	rs201442668	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:195513445C>T	ENST00000463781.3	-	2	5465	c.5006G>A	c.(5005-5007)aGc>aAc	p.S1669N	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S1669N|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGTGCTGGTGACAGG	0.587													.|||	457	0.091254	0.0817	0.0447	5008	,	,		20515	0.1746		0.0736	False		,,,				2504	0.0695																0													39.0	36.0	37.0					3																	195513445		689	1581	2270	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5006G>A	3.37:g.195513445C>T	ENSP00000417498:p.Ser1669Asn		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	3.475	-0.107193	0.06924	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.29655	1.58;1.56	0.595	-1.19	0.09585	.	.	.	.	.	T	0.10165	0.0249	N	0.08118	0	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.21280	-1.0250	8	.	.	.	.	5.4295	0.16446	0.0:0.309:0.0:0.691	.	1669	E7ESK3	.	N	1669	ENSP00000417498:S1669N;ENSP00000420243:S1669N	.	S	-	2	0	MUC4	196997840	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.524000	0.02233	-1.530000	0.01751	-1.862000	0.00560	AGC		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195513491	195513491	+	Missense_Mutation	SNP	G	G	T	rs79338930		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:195513491G>T	ENST00000463781.3	-	2	5419	c.4960C>A	c.(4960-4962)Cct>Act	p.P1654T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P1654T|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGGGCTGGTGACA	0.592																																																	0													26.0	30.0	29.0					3																	195513491		690	1576	2266	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4960C>A	3.37:g.195513491G>T	ENSP00000417498:p.Pro1654Thr		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	0.095	-1.161025	0.01673	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30182	1.55;1.54	0.595	-1.19	0.09585	.	.	.	.	.	T	0.11410	0.0278	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.19289	-1.0310	8	.	.	.	.	0.8499	0.01170	0.2662:0.3695:0.1785:0.1858	.	1654	E7ESK3	.	T	1654	ENSP00000417498:P1654T;ENSP00000420243:P1654T	.	P	-	1	0	MUC4	196997886	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.346000	0.07760	-4.700000	0.00035	-4.108000	0.00011	CCT		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195513502	195513502	+	Missense_Mutation	SNP	T	T	G	rs74664428	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:195513502T>G	ENST00000463781.3	-	2	5408	c.4949A>C	c.(4948-4950)cAt>cCt	p.H1650P	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H1650P|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.N1637_T1652delNASSLSTGHATPLHVT(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGGTGACATGAAGAGGGGT	0.587																																																	2	Deletion - In frame(2)	stomach(2)																																								SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4949A>C	3.37:g.195513502T>G	ENSP00000417498:p.His1650Pro		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	3.623	-0.077171	0.07184	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31510	1.49;1.51	0.423	-0.846	0.10734	.	.	.	.	.	T	0.12732	0.0309	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.24870	-1.0148	8	.	.	.	.	5.5576	0.17125	0.0:0.0:0.4739:0.5261	.	1650	E7ESK3	.	P	1650	ENSP00000417498:H1650P;ENSP00000420243:H1650P	.	H	-	2	0	MUC4	196997897	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-1.621000	0.02044	-2.530000	0.00492	-1.950000	0.00486	CAT		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu;hgsc.bcm.edu	37	3	195515026	195515026	+	Missense_Mutation	SNP	G	G	C	rs200763050		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:195515026G>C	ENST00000463781.3	-	2	3884	c.3425C>G	c.(3424-3426)aCt>aGt	p.T1142S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T1142S|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	616					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T1142S(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TACTGAGGAAGTGTCGGTGAC	0.567																																																	3	Substitution - Missense(3)	skin(2)|kidney(1)											11.0	7.0	8.0					3																	195515026		675	1482	2157	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3425C>G	3.37:g.195515026G>C	ENSP00000417498:p.Thr1142Ser		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	3.313	-0.140308	0.06669	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.34667	1.35;1.35	0.545	-0.879	0.10613	.	.	.	.	.	T	0.31420	0.0796	N	0.14661	0.345	0.09310	N	1	D	0.60160	0.987	D	0.63488	0.915	T	0.16394	-1.0404	8	.	.	.	.	3.9497	0.09363	0.5686:0.0:0.4314:0.0	.	1142	E7ESK3	.	S	1142	ENSP00000417498:T1142S;ENSP00000420243:T1142S	.	T	-	2	0	MUC4	196999421	0.002000	0.14202	0.000000	0.03702	0.066000	0.16364	0.481000	0.22260	-0.332000	0.08489	0.064000	0.15345	ACT		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC6	4588	hgsc.bcm.edu	37	11	1017797	1017797	+	Silent	SNP	C	C	G	rs76800954	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:1017797C>G	ENST00000421673.2	-	31	5054	c.5004G>C	c.(5002-5004)gcG>gcC	p.A1668A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1668	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCATTGTTGGCGCTGTGTGGG	0.567																																																	0													700.0	680.0	687.0					11																	1017797		2201	4295	6496	SO:0001819	synonymous_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5004G>C	11.37:g.1017797C>G			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540	
Unknown	0	broad.mit.edu	37	1	144618201	144618201	+	IGR	SNP	T	T	C	rs61809737		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:144618201T>C								RP11-640M9.2 (12310 upstream) : NBPF9 (193542 downstream)																							CTCCTCACTCTGGATGAGCCG	0.567																																																	0																																										SO:0001628	intergenic_variant	400818																															1.37:g.144618201T>C				Missense_Mutation	SNP		37																																																																																				0	0.567									
NBPF9	400818	broad.mit.edu	37	1	144815953	144815953	+	Missense_Mutation	SNP	A	A	G	rs199822480	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:144815953A>G	ENST00000440491.2	+	4	550	c.550A>G	c.(550-552)Aat>Gat	p.N184D	NBPF9_ENST00000338347.4_Missense_Mutation_p.N184D|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_5'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	442	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.N184D(2)		NS(2)|prostate(1)	3						CAACGATGACAATGAAGATGT	0.423													.|||	2409	0.48103	0.388	0.4496	5008	,	,		14195	0.755		0.4533	False		,,,				2504	0.3753																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	400818				CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.550A>G	1.37:g.144815953A>G	ENSP00000390934:p.Asn184Asp			Missense_Mutation	SNP	ENST00000440491.2	37		.	.	.	.	.	.	.	.	.	.	.	0.004	-2.349402	0.00219	.	.	ENSG00000168614	ENST00000338347;ENST00000440491	T;T	0.02323	4.34;4.34	0.723	0.723	0.18231	DUF1220 (1);	.	.	.	.	T	0.00328	0.0010	.	.	.	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.42137	-0.9469	7	0.02654	T	1	.	3.2222	0.06720	0.3262:0.0:0.6738:0.0	.	442	Q3BBV1	NBPFK_HUMAN	D	184	ENSP00000342975:N184D;ENSP00000390934:N184D	ENSP00000342975:N184D	N	+	1	0	NBPF9	143527310	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	-1.711000	0.01886	-0.094000	0.12374	-1.032000	0.02404	AAT		0.423	NBPF9-203	KNOWN	basic	protein_coding	protein_coding			NM_001037675	
NBPF9	400818	broad.mit.edu	37	1	144815968	144815968	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs200833830	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:144815968G>A	ENST00000281815.8	+	0	366				NBPF9_ENST00000338347.4_Missense_Mutation_p.V189I|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_Missense_Mutation_p.V189I			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9							cytoplasm (GO:0005737)		p.V189I(1)		NS(2)|prostate(1)	3						AGATGTTCAAGTTGAGGTGGC	0.423													.|||	1508	0.301118	0.084	0.3847	5008	,	,		18231	0.374		0.4264	False		,,,				2504	0.3313																1	Substitution - Missense(1)	kidney(1)																																										400818				CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.-381G>A	1.37:g.144815968G>A				Missense_Mutation	SNP	ENST00000281815.8	37		.	.	.	.	.	.	.	.	.	.	.	7.838	0.721332	0.15372	.	.	ENSG00000168614	ENST00000338347;ENST00000440491	T;T	0.02863	4.15;4.13	0.118	0.118	0.14667	DUF1220 (1);	.	.	.	.	T	0.00754	0.0025	.	.	.	0.58432	P	1.999999999946489E-6	B;B	0.30068	0.12;0.267	B;B	0.28991	0.077;0.097	T	0.48714	-0.9011	6	0.33141	T	0.24	.	.	.	.	.	447;187	Q3BBV1;A2BGT5	NBPFK_HUMAN;.	I	189	ENSP00000342975:V189I;ENSP00000390934:V189I	ENSP00000342975:V189I	V	+	1	0	NBPF9	143527325	0.003000	0.15002	0.039000	0.18376	0.060000	0.15804	1.066000	0.30604	0.191000	0.20236	0.194000	0.17425	GTT		0.423	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001037675	
NEDD4L	23327	broad.mit.edu;hgsc.bcm.edu	37	18	56033230	56033230	+	Splice_Site	SNP	G	G	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr18:56033230G>A	ENST00000400345.3	+	21	2116		c.e21-1		NEDD4L_ENST00000435432.2_Splice_Site|NEDD4L_ENST00000456986.1_Splice_Site|NEDD4L_ENST00000256832.7_Splice_Site|NEDD4L_ENST00000356462.6_Splice_Site|NEDD4L_ENST00000456173.2_Splice_Site|NEDD4L_ENST00000586263.1_Splice_Site|NEDD4L_ENST00000357895.5_Splice_Site|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256830.9_Splice_Site|NEDD4L_ENST00000431212.2_Splice_Site|NEDD4L_ENST00000382850.4_Splice_Site	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase						cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)	p.?(2)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CTTTTGTGTAGGCTGATATCC	0.338																																																	2	Unknown(2)	kidney(2)											73.0	65.0	68.0					18																	56033230		1826	4085	5911	SO:0001630	splice_region_variant	23327			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1834-1G>A	18.37:g.56033230G>A			O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Splice_Site	SNP	ENST00000400345.3	37	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215791	0.79352	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8487	0.96730	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEDD4L	54184210	1.000000	0.71417	0.988000	0.46212	0.790000	0.44656	9.813000	0.99286	2.748000	0.94277	0.650000	0.86243	.		0.338	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			Intron
NKAIN3	286183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	63902748	63902748	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr8:63902748G>T	ENST00000523211.1	+	6	686	c.554G>T	c.(553-555)tGc>tTc	p.C185F	NKAIN3_ENST00000328472.5_Missense_Mutation_p.C185F	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C185F(1)		kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				ctgcaagtatgcaaacatctt	0.289																																																	1	Substitution - Missense(1)	kidney(1)											50.0	44.0	46.0					8																	63902748		1813	4065	5878	SO:0001583	missense	286183			AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.554G>T	8.37:g.63902748G>T	ENSP00000429073:p.Cys185Phe			Missense_Mutation	SNP	ENST00000523211.1	37	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	G	4.281	0.051376	0.08291	.	.	ENSG00000185942	ENST00000523211;ENST00000328472	T;T	0.13307	2.6;2.6	1.52	0.265	0.15612	.	.	.	.	.	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34850	-0.9812	9	0.56958	D	0.05	.	4.6899	0.12776	0.0:0.0:0.4212:0.5788	.	185	Q8N8D7	NKAI3_HUMAN	F	185	ENSP00000429073:C185F;ENSP00000333627:C185F	ENSP00000333627:C185F	C	+	2	0	NKAIN3	64065302	0.001000	0.12720	0.002000	0.10522	0.074000	0.17049	0.044000	0.13992	0.047000	0.15862	0.563000	0.77884	TGC		0.289	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2		NM_173688	
OBSL1	23363	broad.mit.edu;hgsc.bcm.edu	37	2	220428159	220428159	+	Silent	SNP	C	C	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:220428159C>A	ENST00000404537.1	-	7	2654	c.2598G>T	c.(2596-2598)ctG>ctT	p.L866L	OBSL1_ENST00000373876.1_Silent_p.L866L|OBSL1_ENST00000603926.1_Silent_p.L866L|OBSL1_ENST00000289656.3_Silent_p.L453L|OBSL1_ENST00000373873.4_Silent_p.L866L|OBSL1_ENST00000265318.4_Silent_p.L866L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	866	Ig-like 6.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.L866L(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGGTGGCGGGCAGCACCAGGC	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											41.0	49.0	47.0					2																	220428159		2098	4208	6306	SO:0001819	synonymous_variant	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2598G>T	2.37:g.220428159C>A			A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	CCDS46520.1																																																																																				0.657	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			
OR2T34	127068	hgsc.bcm.edu	37	1	248737348	248737348	+	Silent	SNP	G	G	A	rs61833442	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:248737348G>A	ENST00000328782.2	-	1	732	c.711C>T	c.(709-711)gcC>gcT	p.A237A		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTGCGGCCGGCGGCAGAAT	0.567													g|||	1625	0.324481	0.5098	0.2349	5008	,	,		20077	0.251		0.2107	False		,,,				2504	0.3303																0													110.0	124.0	119.0					1																	248737348		2176	4300	6476	SO:0001819	synonymous_variant	127068			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.711C>T	1.37:g.248737348G>A			B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	ENST00000328782.2	37	CCDS31120.1																																																																																				0.567	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1		NM_001001821	
OR4C4P	79550	hgsc.bcm.edu	37	11	48373827	48373827	+	IGR	SNP	G	G	A	rs80081241	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:48373827G>A								OR4C3 (26320 upstream) : OR4C5 (13209 downstream)																							CAAATAGGACGGAAAAGAGTA	0.413													N|||	117	0.0233626	0.0847	0.0072	5008	,	,		12643	0.0		0.0	False		,,,				2504	0.0																0													131.0	111.0	117.0					11																	48373827		692	1591	2283	SO:0001628	intergenic_variant	403257																															11.37:g.48373827G>A				Missense_Mutation	SNP		37																																																																																				0	0.413									
OR4F15	390649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	102358604	102358604	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr15:102358604C>T	ENST00000332238.4	+	1	239	c.215C>T	c.(214-216)gCa>gTa	p.A72V		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A72V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ATTGATATGGCATTTTGCTCA	0.418																																																	1	Substitution - Missense(1)	kidney(1)											229.0	199.0	209.0					15																	102358604		2203	4300	6503	SO:0001583	missense	390649			BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.215C>T	15.37:g.102358604C>T	ENSP00000333184:p.Ala72Val		B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	8.778	0.927549	0.18056	.	.	ENSG00000182854	ENST00000332238	T	0.00433	7.43	5.57	-8.28	0.01013	GPCR, rhodopsin-like superfamily (1);	2.326850	0.01624	N	0.023141	T	0.00178	0.0005	N	0.03930	-0.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46925	-0.9156	9	.	.	.	.	10.9571	0.47364	0.0:0.3049:0.5381:0.1569	.	72	Q8NGB8	O4F15_HUMAN	V	72	ENSP00000333184:A72V	.	A	+	2	0	OR4F15	100176127	0.000000	0.05858	0.000000	0.03702	0.982000	0.71751	-0.245000	0.08890	-1.152000	0.02832	-0.312000	0.09012	GCA		0.418	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1		NM_001001674	
OR51B5	282763	hgsc.bcm.edu;ucsc.edu	37	11	5364542	5364558	+	Frame_Shift_Del	DEL	CAGCCCCAGGTCTGTGG	CAGCCCCAGGTCTGTGG	-	rs546965603|rs372207902|rs147062602	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	CAGCCCCAGGTCTGTGG	CAGCCCCAGGTCTGTGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:5364542_5364558delCAGCCCCAGGTCTGTGG	ENST00000300773.2	-	1	251_267	c.197_213delCCACAGACCTGGGGCTG	c.(196-213)gccacagacctggggctgfs	p.ATDLGL66fs	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	66					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A66fs*48(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTCAGGGCCAGCCCCAGGTCTGTGGCAGCCAGCAT	0.525														252	0.0503195	0.1377	0.0274	5008	,	,		22155	0.0		0.0457	False		,,,				2504	0.0051																1	Deletion - Frameshift(1)	upper_aerodigestive_tract(1)								487,3771		28,431,1670						3.6	0.1		dbSNP_134	48	401,7853		15,371,3741	no	frameshift	OR51B5	NM_001005567.2		43,802,5411	A1A1,A1R,RR		4.8583,11.4373,7.0972				888,11624				SO:0001589	frameshift_variant	282763			BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.197_213delCCACAGACCTGGGGCTG	11.37:g.5364542_5364558delCAGCCCCAGGTCTGTGG	ENSP00000300773:p.Ala66fs		B2RN59	Frame_Shift_Del	DEL	ENST00000300773.2	37	CCDS31378.1																																																																																				0.525	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1		NM_001005567	
PABPC1	26986	hgsc.bcm.edu	37	8	101718965	101718965	+	Missense_Mutation	SNP	G	G	A	rs62513921		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr8:101718965G>A	ENST00000318607.5	-	11	2644	c.1516C>T	c.(1516-1518)Cgc>Tgc	p.R506C	PABPC1_ENST00000519596.1_Intron|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519004.1_Missense_Mutation_p.R461C|PABPC1_ENST00000522387.1_Missense_Mutation_p.R474C	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	506					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GGAACGGTGCGGACAGCAGGA	0.438																																																	0													62.0	58.0	59.0					8																	101718965		2203	4300	6503	SO:0001583	missense	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1516C>T	8.37:g.101718965G>A	ENSP00000313007:p.Arg506Cys		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966636	0.53507	.	.	ENSG00000070756	ENST00000318607;ENST00000519004;ENST00000522387;ENST00000517990;ENST00000522658	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.4	4.52	0.55395	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.087768	0.45606	D	0.000353	T	0.50820	0.1638	M	0.68952	2.095	0.80722	D	1	P;B;D	0.55172	0.928;0.016;0.97	P;B;P	0.52856	0.711;0.017;0.62	T	0.54214	-0.8327	10	0.62326	D	0.03	.	9.4895	0.38951	0.0721:0.0:0.7865:0.1414	rs62513921	474;506;506	E7ERJ7;B3KT93;P11940	.;.;PABP1_HUMAN	C	506;461;474;15;53	ENSP00000313007:R506C;ENSP00000429594:R461C;ENSP00000429395:R474C;ENSP00000428030:R15C;ENSP00000428840:R53C	ENSP00000313007:R506C	R	-	1	0	PABPC1	101788141	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.013000	0.70776	1.427000	0.47276	-0.150000	0.13652	CGC		0.438	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1		NM_002568	
PABPC1	26986	hgsc.bcm.edu	37	8	101718968	101718968	+	Missense_Mutation	SNP	C	C	T	rs62513922		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr8:101718968C>T	ENST00000318607.5	-	11	2641	c.1513G>A	c.(1513-1515)Gtc>Atc	p.V505I	PABPC1_ENST00000519596.1_Intron|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519004.1_Missense_Mutation_p.V460I|PABPC1_ENST00000522387.1_Missense_Mutation_p.V473I	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	505					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ACGGTGCGGACAGCAGGAGTA	0.443																																																	0													60.0	56.0	58.0					8																	101718968		2203	4300	6503	SO:0001583	missense	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1513G>A	8.37:g.101718968C>T	ENSP00000313007:p.Val505Ile		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873827	0.91664	.	.	ENSG00000070756	ENST00000318607;ENST00000519004;ENST00000522387;ENST00000517990;ENST00000522658	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.4	5.4	0.78164	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.000000	0.52532	D	0.000070	T	0.44159	0.1280	M	0.63843	1.955	0.54753	D	0.999987	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.12837	0.008;0.008;0.008	T	0.30534	-0.9975	10	0.22109	T	0.4	.	19.5279	0.95213	0.0:1.0:0.0:0.0	rs62513922	473;505;505	E7ERJ7;B3KT93;P11940	.;.;PABP1_HUMAN	I	505;460;473;14;52	ENSP00000313007:V505I;ENSP00000429594:V460I;ENSP00000429395:V473I;ENSP00000428030:V14I;ENSP00000428840:V52I	ENSP00000313007:V505I	V	-	1	0	PABPC1	101788144	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.233000	0.78125	2.706000	0.92434	0.655000	0.94253	GTC		0.443	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1		NM_002568	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52702662	52702662	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:52702662C>T	ENST00000296302.7	-	3	238		c.e3-1		PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(5)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGGTTGATTTCTGttataatt	0.289			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	5	Unknown(5)	kidney(3)|liver(2)											38.0	37.0	37.0					3																	52702662		2202	4297	6499	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.237-1G>A	3.37:g.52702662C>T			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	23.3	4.399788	0.83120	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2406	0.93881	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52677702	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.093000	0.76937	2.629000	0.89072	0.655000	0.94253	.		0.289	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	Intron
PCDHA6	56142	broad.mit.edu;hgsc.bcm.edu	37	5	140209499	140209499	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr5:140209499C>T	ENST00000529310.1	+	1	1937	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	608	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S608L(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTATGAGCTG	0.662																																																	2	Substitution - Missense(2)	kidney(2)											81.0	82.0	82.0					5																	140209499		2203	4300	6503	SO:0001583	missense	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1823C>T	5.37:g.140209499C>T	ENSP00000433378:p.Ser608Leu		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533355	0.27387	.	.	ENSG00000081842	ENST00000529310	T	0.54071	0.59	3.87	3.87	0.44632	Cadherin (4);Cadherin-like (1);	0.000000	0.33419	U	0.004940	T	0.69242	0.3089	M	0.77486	2.375	0.33591	D	0.601142	D;D	0.71674	0.998;0.998	P;D	0.62955	0.897;0.909	T	0.80384	-0.1405	10	0.62326	D	0.03	.	13.8911	0.63740	0.0:0.7704:0.2296:0.0	.	608;608	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	L	608	ENSP00000433378:S608L	ENSP00000433378:S608L	S	+	2	0	PCDHA6	140189683	0.000000	0.05858	0.950000	0.38849	0.281000	0.26958	0.087000	0.14958	2.158000	0.67659	0.306000	0.20318	TCG		0.662	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3		NM_018909	
PDZRN3	23024	broad.mit.edu;hgsc.bcm.edu	37	3	73432856	73432856	+	Missense_Mutation	SNP	C	C	A	rs370428084		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:73432856C>A	ENST00000263666.4	-	10	2975	c.2861G>T	c.(2860-2862)cGc>cTc	p.R954L	PDZRN3_ENST00000466780.1_Missense_Mutation_p.R611L|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R676L|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R611L|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R671L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	954					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R954L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CATGCCGCTGCGCTCTTCCCG	0.657																																																	1	Substitution - Missense(1)	kidney(1)						C	LEU/ARG	0,4406		0,0,2203	52.0	51.0	52.0		2861	5.3	1.0	3		52	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDZRN3	NM_015009.1	102	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	954/1067	73432856	1,13005	2203	4300	6503	SO:0001583	missense	23024			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2861G>T	3.37:g.73432856C>A	ENSP00000263666:p.Arg954Leu		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.359221|4.359221	0.82353|0.82353	0.0|0.0	1.16E-4|1.16E-4	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	.|T;T;T;T;T	.|0.50277	.|0.75;0.75;0.75;0.75;0.75	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72684|0.72684	0.3491|0.3491	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999	.|D;D;D;D	.|0.97110	.|1.0;0.998;1.0;0.994	T|T	0.77365|0.77365	-0.2615|-0.2615	5|10	.|0.87932	.|D	.|0	.|.	18.5104|18.5104	0.90914|0.90914	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|676;671;671;954	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	S|L	270|954;676;611;611;671	.|ENSP00000263666:R954L;ENSP00000442026:R676L;ENSP00000418168:R611L;ENSP00000418484:R611L;ENSP00000418624:R671L	.|ENSP00000263666:R954L	A|R	-|-	1|2	0|0	PDZRN3|PDZRN3	73515546|73515546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.763000|0.763000	0.43281|0.43281	7.455000|7.455000	0.80726|0.80726	2.452000|2.452000	0.82932|0.82932	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.657	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1		XM_041363	
PILRB	29990	hgsc.bcm.edu	37	7	99956439	99956439	+	Missense_Mutation	SNP	T	T	C	rs35986051	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr7:99956439T>C	ENST00000452089.1	+	7	1250	c.191T>C	c.(190-192)gTt>gCt	p.V64A	STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000609309.1_Missense_Mutation_p.V64A|PILRB_ENST00000610247.1_Missense_Mutation_p.V64A|PILRB_ENST00000444073.1_Missense_Mutation_p.V64A|PILRB_ENST00000448382.1_Intron			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	64	Ig-like V-type.			IVPN -> TAPD (in Ref. 2; CAC19193). {ECO:0000305}.	activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTAGCCATAGTTCCCAACGTG	0.532													N|||	390	0.0778754	0.0703	0.0764	5008	,	,		18897	0.0228		0.1402	False		,,,				2504	0.0818																0													70.0	70.0	70.0					7																	99956439		2196	4271	6467	SO:0001583	missense	29990			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.191T>C	7.37:g.99956439T>C	ENSP00000391748:p.Val64Ala		Q69YF9|Q9HBS0	Missense_Mutation	SNP	ENST00000452089.1	37	CCDS43622.1	172	0.07875457875457875	34	0.06910569105691057	28	0.07734806629834254	12	0.02097902097902098	98	0.12928759894459102	t	0.252	-1.005939	0.02112	.	.	ENSG00000121716	ENST00000310771;ENST00000420688;ENST00000452089;ENST00000457519;ENST00000443526;ENST00000419749;ENST00000422808;ENST00000444073;ENST00000413850;ENST00000438231	T;T;T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04	2.32	-2.11	0.07187	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.507400	0.04113	N	0.315070	T	0.00109	0.0003	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.25710	-1.0124	9	.	.	.	.	0.2801	0.00243	0.2551:0.2076:0.1478:0.3896	rs35986051;rs61730162	64	Q9UKJ0	PILRB_HUMAN	A	64;64;64;64;64;64;64;64;169;64	ENSP00000311153:V64A;ENSP00000391748:V64A;ENSP00000411261:V64A;ENSP00000403757:V64A;ENSP00000404321:V64A;ENSP00000389856:V64A;ENSP00000410764:V64A;ENSP00000408425:V64A	.	V	+	2	0	PILRB	99794375	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.052000	0.14163	-0.935000	0.03728	-1.886000	0.00541	GTT		0.532	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2		NM_178238	
BACE2	25825	hgsc.bcm.edu	37	21	42551425	42551425	+	Intron	SNP	C	C	G	rs5019195		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr21:42551425C>G	ENST00000330333.6	+	1	775				PLAC4_ENST00000430327.2_RNA|BACE2-IT1_ENST00000433378.1_RNA|BACE2_ENST00000347667.5_Intron|PLAC4_ENST00000440221.2_RNA|PLAC4_ENST00000536486.1_RNA|BACE2_ENST00000328735.6_Intron|PLAC4_ENST00000414699.1_RNA	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TGAGGAGTGACGGTGTCTGGG	0.607																																																	0													130.0	112.0	118.0					21																	42551425		2197	4276	6473	SO:0001627	intron_variant	191585			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.312+10923C>G	21.37:g.42551425C>G			A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	CCDS13668.1																																																																																				0.607	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			
PLIN4	729359	hgsc.bcm.edu;ucsc.edu	37	19	4511491	4511491	+	Silent	SNP	A	A	G	rs10423324	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr19:4511491A>G	ENST00000301286.3	-	3	2438	c.2439T>C	c.(2437-2439)ggT>ggC	p.G813G		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	813	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGTCCTTGGTACCGGTCAGCA	0.597																																																	0													95.0	123.0	114.0					19																	4511491		2057	4201	6258	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2439T>C	19.37:g.4511491A>G			A6NEI2	Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																				0.597	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1		XM_170901	
PLIN4	729359	hgsc.bcm.edu;ucsc.edu	37	19	4512890	4512890	+	Missense_Mutation	SNP	G	G	A	rs199944112	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr19:4512890G>A	ENST00000301286.3	-	3	1039	c.1040C>T	c.(1039-1041)aCt>aTt	p.T347I		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	347	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGTTAGGACAGTCTTGGTGGT	0.577													G|||	613	0.122404	0.3404	0.0735	5008	,	,		19607	0.001		0.0765	False		,,,				2504	0.0348																0													45.0	88.0	76.0					19																	4512890		1706	4160	5866	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1040C>T	19.37:g.4512890G>A	ENSP00000301286:p.Thr347Ile		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756798	0.49362	.	.	ENSG00000167676	ENST00000301286	T	0.05319	3.46	4.58	-2.82	0.05787	.	0.834705	0.10002	U	0.728326	T	0.06735	0.0172	M	0.63428	1.95	0.09310	N	1	P	0.49185	0.92	B	0.42386	0.386	T	0.29852	-0.9998	10	0.39692	T	0.17	-0.7204	3.5654	0.07897	0.0837:0.1338:0.3723:0.4103	.	347	Q96Q06	PLIN4_HUMAN	I	347	ENSP00000301286:T347I	ENSP00000301286:T347I	T	-	2	0	PLIN4	4463890	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.482000	0.22276	0.054000	0.16065	-0.373000	0.07131	ACT		0.577	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1		XM_170901	
PLIN4	729359	hgsc.bcm.edu	37	19	4512945	4512946	+	Missense_Mutation	DNP	CA	CA	TG	rs79662071|rs75031432	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C|A	C|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr19:4512945_4512946CA>TG	ENST00000301286.3	-	3	983_984	c.984_985TG>CA	c.(982-987)acTGgt>acCAgt	p.G329S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	329	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TTCATGGCACCAGTCACCCCAC	0.569																																																	0																																										SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.984_985delinsTG	19.37:g.4512945_4512946delinsTG	ENSP00000301286:p.Gly329Ser		A6NEI2	Missense_Mutation|Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																				0.569	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1		XM_170901	
POM121L9P	29774	broad.mit.edu	37	22	24656904	24656904	+	RNA	SNP	C	C	T	rs201168540	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr22:24656904C>T	ENST00000414583.2	+	0	1977					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		GCTGTTTCAACGCCACCACCA	0.602																																																	0																																												29774			AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24656904C>T				RNA	SNP	ENST00000414583.2	37																																																																																					0.602	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1		NM_014549	
PRB1	5542	broad.mit.edu	37	12	11506350	11506350	+	Intron	SNP	C	C	T	rs377208399	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr12:11506350C>T	ENST00000500254.2	-	4	351				PRB1_ENST00000545626.1_Intron|PRB1_ENST00000546254.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GACCTTGGGGCTGGTTGCCTC	0.602													c|||	193	0.0385383	0.0953	0.0144	5008	,	,		13048	0.0298		0.008	False		,,,				2504	0.0194																0													67.0	68.0	68.0					12																	11506350		1933	4087	6020	SO:0001627	intron_variant	5542				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.314-26G>A	12.37:g.11506350C>T			Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	ENST00000500254.2	37	CCDS8642.1																																																																																				0.602	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1		NM_005039	
PRSS1	5644	hgsc.bcm.edu	37	7	142459716	142459716	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr7:142459716C>A	ENST00000311737.7	+	3	298	c.292C>A	c.(292-294)Caa>Aaa	p.Q98K	PRSS1_ENST00000486171.1_Missense_Mutation_p.Q112K	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	98	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CCGCCACCCCCAATACGACAG	0.547																																																	0			GRCh37	HM060042	PRSS1	M							235.0	219.0	224.0					7																	142459716		2203	4300	6503	SO:0001583	missense	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.292C>A	7.37:g.142459716C>A	ENSP00000308720:p.Gln98Lys		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.089844	0.00367	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;T	0.92545	-3.06;-3.06;-1.44	3.28	-6.56	0.01848	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.293800	0.04657	N	0.408175	T	0.79435	0.4445	N	0.11870	0.19	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.69450	-0.5142	10	0.13108	T	0.6	.	5.7541	0.18162	0.3765:0.2658:0.3576:0.0	.	112;98	E7EQ64;P07477	.;TRY1_HUMAN	K	112;98;88;48	ENSP00000417854:Q112K;ENSP00000308720:Q98K;ENSP00000419912:Q48K	ENSP00000308720:Q98K	Q	+	1	0	PRSS1	142139290	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.343000	0.07791	-1.181000	0.02730	-1.709000	0.00716	CAA		0.547	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			
PRSS1	5644	hgsc.bcm.edu	37	7	142460415	142460415	+	Silent	SNP	T	T	C			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr7:142460415T>C	ENST00000311737.7	+	4	594	c.588T>C	c.(586-588)tgT>tgC	p.C196C	PRSS1_ENST00000486171.1_Silent_p.C210C	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	196	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	AGGATTCATGTCAGGTGATTT	0.537																																																	0													154.0	149.0	151.0					7																	142460415		2203	4300	6503	SO:0001819	synonymous_variant	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.588T>C	7.37:g.142460415T>C			A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	CCDS5872.1																																																																																				0.537	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			
PRSS16	10279	hgsc.bcm.edu;ucsc.edu	37	6	27223065	27223079	+	In_Frame_Del	DEL	AAGGAGAGCCAGATT	AAGGAGAGCCAGATT	-	rs199705677|rs201493618|rs144604424|rs140280737|rs371606222|rs147170589|rs143492910|rs200987021|rs141138864|rs142712601	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	AAGGAGAGCCAGATT	AAGGAGAGCCAGATT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr6:27223065_27223079delAAGGAGAGCCAGATT	ENST00000230582.3	+	12	1531_1545	c.1516_1530delAAGGAGAGCCAGATT	c.(1516-1530)aaggagagccagattdel	p.KESQI506del	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_In_Frame_Del_p.KESQI249del	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	506					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)	p.K506_I510delKESQI(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAAGCTGGCAAAGGAGAGCCAGATTAAGGGTGAAG	0.479														511	0.102037	0.1135	0.1124	5008	,	,		20927	0.0139		0.174	False		,,,				2504	0.0961				NSCLC(178;1118 2105 17078 23587 44429)												1	Deletion - In frame(1)	ovary(1)								514,3748		27,460,1644						-5.7	0.0		dbSNP_113	73	1519,6735		166,1187,2774	no	coding	PRSS16	NM_005865.3		193,1647,4418	A1A1,A1R,RR		18.4032,12.0601,16.2432				2033,10483				SO:0001651	inframe_deletion	10279			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1516_1530delAAGGAGAGCCAGATT	6.37:g.27223065_27223079delAAGGAGAGCCAGATT	ENSP00000230582:p.Lys506_Ile510del		O75416	In_Frame_Del	DEL	ENST00000230582.3	37	CCDS4623.1																																																																																				0.479	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			
PRSS3	5646	hgsc.bcm.edu	37	9	33798079	33798079	+	Splice_Site	SNP	T	T	C	rs144845866	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr9:33798079T>C	ENST00000361005.5	+	3	624	c.624T>C	c.(622-624)ggT>ggC	p.G208G	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Splice_Site_p.G165G|PRSS3_ENST00000379405.3_Splice_Site_p.G151G|PRSS3_ENST00000429677.3_Splice_Site_p.G144G	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	208	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			TGAGCTTTGGTGGTGAGTGGG	0.562																																																	0													120.0	103.0	109.0					9																	33798079		2203	4300	6503	SO:0001630	splice_region_variant	5646				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.625+1T>C	9.37:g.33798079T>C			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	CCDS47958.1																																																																																				0.562	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1		NM_002771	Silent
PRSS41	360226	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2849526	2849526	+	RNA	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr16:2849526C>T	ENST00000399677.1	+	0	536				SNORA3_ENST00000408792.1_RNA			Q7RTY9	PRS41_HUMAN	protease, serine, 41							anchored component of membrane (GO:0031225)|intracellular organelle (GO:0043229)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)										GTGCACCGGCCGGACTGCTGG	0.597																																																	0													119.0	89.0	98.0					16																	2849526		692	1591	2283			360226					16p13.3	2014-04-01			ENSG00000215148	ENSG00000215148		"""Serine peptidases / Serine peptidases"""	30715	other	unknown	"""testis serine protease 1"""					12838346	Standard	NM_001135086		Approved	TESSP1	uc010uwi.2	Q7RTY9	OTTHUMG00000128932		16.37:g.2849526C>T				Missense_Mutation	SNP	ENST00000399677.1	37																																																																																					0.597	PRSS41-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000436450.1		NM_183379	
PRUNE2	158471	hgsc.bcm.edu;ucsc.edu	37	9	79323220	79323220	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr9:79323220delT	ENST00000376718.3	-	8	4093	c.3970delA	c.(3970-3972)agtfs	p.S1324fs	PRUNE2_ENST00000428286.1_Frame_Shift_Del_p.S965fs	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1324					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCACTTTCACTTTGTCCATCG	0.532																																																	0													66.0	61.0	63.0					9																	79323220		1568	3582	5150	SO:0001589	frameshift_variant	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3970delA	9.37:g.79323220delT	ENSP00000365908:p.Ser1324fs		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Frame_Shift_Del	DEL	ENST00000376718.3	37	CCDS47982.1																																																																																				0.532	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2		NM_138818	
PTCHD3	374308	broad.mit.edu;hgsc.bcm.edu	37	10	27702370	27702370	+	Silent	SNP	G	G	A	rs376677291		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr10:27702370G>A	ENST00000438700.3	-	1	927	c.810C>T	c.(808-810)taC>taT	p.Y270Y		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	270					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.Y270Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCTGCCAGGCGTACAGGATCG	0.627																																																	1	Substitution - coding silent(1)	kidney(1)						A		1,4405	2.1+/-5.4	0,1,2202	52.0	57.0	55.0		810	0.1	0.0	10		55	0,8600		0,0,4300	no	coding-synonymous	PTCHD3	NM_001034842.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		270/768	27702370	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.810C>T	10.37:g.27702370G>A			I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	CCDS31173.1																																																																																				0.627	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3		XM_370541	
PUM2	23369	broad.mit.edu;ucsc.edu	37	2	20451396	20451397	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:20451396_20451397TC>AT	ENST00000361078.2	-	20	3172_3173	c.3150_3151GA>AT	c.(3148-3153)aaGAat>aaATat	p.N1051Y	PUM2_ENST00000338086.5_Missense_Mutation_p.N1049Y|PUM2_ENST00000536417.1_Missense_Mutation_p.N993Y|PUM2_ENST00000403432.1_Missense_Mutation_p.N1049Y|PUM2_ENST00000319801.5_Missense_Mutation_p.N972Y			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	1051					regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.K1048K(1)|p.N1049Y(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCGGGCTATTCTTCAAATAAT	0.376																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	23369			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.3150_3151delinsAT	2.37:g.20451396_20451397delinsAT	ENSP00000354370:p.Asn1051Tyr		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation|Silent	SNP	ENST00000361078.2	37																																																																																					0.376	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015317	
PYROXD1	79912	broad.mit.edu;hgsc.bcm.edu	37	12	21621622	21621622	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr12:21621622G>C	ENST00000240651.9	+	12	1491	c.1437G>C	c.(1435-1437)atG>atC	p.M479I	PYROXD1_ENST00000538582.1_Missense_Mutation_p.M408I	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	479							oxidoreductase activity (GO:0016491)	p.M479I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						TAAACCAAATGAATCTTTCAT	0.318																																																	1	Substitution - Missense(1)	kidney(1)											40.0	38.0	38.0					12																	21621622		2202	4297	6499	SO:0001583	missense	79912			AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.1437G>C	12.37:g.21621622G>C	ENSP00000240651:p.Met479Ile		A6NKI6|B3KWN8|Q9H6P1	Missense_Mutation	SNP	ENST00000240651.9	37	CCDS31755.1	.	.	.	.	.	.	.	.	.	.	G	9.435	1.086648	0.20390	.	.	ENSG00000121350	ENST00000536935;ENST00000240651;ENST00000538582	.	.	.	5.02	5.02	0.67125	.	0.038262	0.85682	D	0.000000	T	0.40247	0.1109	N	0.17674	0.51	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34976	-0.9807	9	0.02654	T	1	.	17.7046	0.88305	0.0:0.0:1.0:0.0	.	479	Q8WU10	PYRD1_HUMAN	I	185;479;408	.	ENSP00000240651:M479I	M	+	3	0	PYROXD1	21512889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.362000	0.66098	2.477000	0.83638	0.563000	0.77884	ATG		0.318	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1		NM_024854	
RGPD3	653489	broad.mit.edu	37	2	107040985	107040985	+	Silent	SNP	T	T	C	rs140856347	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:107040985T>C	ENST00000409886.3	-	20	3525	c.3438A>G	c.(3436-3438)cgA>cgG	p.R1146R	RGPD3_ENST00000304514.7_Silent_p.R1146R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1146	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)			p.R1146R(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTGCTGCCAATCGCTCTAGTT	0.463													.|||	1440	0.28754	0.1868	0.2378	5008	,	,		15088	0.627		0.16	False		,,,				2504	0.2403																2	Substitution - coding silent(2)	kidney(2)											17.0	13.0	14.0					2																	107040985		682	1556	2238	SO:0001819	synonymous_variant	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3438A>G	2.37:g.107040985T>C			B8ZZM4	Silent	SNP	ENST00000409886.3	37	CCDS46379.1																																																																																				0.463	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1		XM_929931	
RGPD4	285190	broad.mit.edu	37	2	108487877	108487877	+	Silent	SNP	T	T	C	rs199986270	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:108487877T>C	ENST00000408999.3	+	20	3494	c.3417T>C	c.(3415-3417)gaT>gaC	p.D1139D	RGPD4_ENST00000354986.4_Silent_p.D1139D	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1139	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)			p.D1139D(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATTTCTCTGATGGTGATGCCA	0.438													N|||	655	0.130791	0.1929	0.1527	5008	,	,		9395	0.0308		0.0716	False		,,,				2504	0.1953																1	Substitution - coding silent(1)	kidney(1)											6.0	6.0	6.0					2																	108487877		126	650	776	SO:0001819	synonymous_variant	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3417T>C	2.37:g.108487877T>C			B9A029	Silent	SNP	ENST00000408999.3	37	CCDS46381.1																																																																																				0.438	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2		XM_496581	
RBM44	375316	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238733023	238733023	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:238733023C>T	ENST00000409864.1	+	10	2667	c.2413C>T	c.(2413-2415)Caa>Taa	p.Q805*	RBM44_ENST00000316997.4_Nonsense_Mutation_p.Q805*			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	804						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.Q805*(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ACAGGGAAATCAAGTAGAACA	0.428																																																	2	Substitution - Nonsense(2)	kidney(2)											116.0	119.0	118.0					2																	238733023		1937	4149	6086	SO:0001587	stop_gained	375316			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.2413C>T	2.37:g.238733023C>T	ENSP00000386727:p.Gln805*		A0AUW3	Nonsense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	C	40	8.235951	0.98719	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	.	.	.	5.32	0.778	0.18543	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-0.0761	9.6993	0.40175	0.146:0.462:0.392:0.0	.	.	.	.	X	805	.	ENSP00000321179:Q805X	Q	+	1	0	RBM44	238397762	0.000000	0.05858	0.000000	0.03702	0.492000	0.33523	-0.109000	0.10840	0.541000	0.28827	0.650000	0.86243	CAA		0.428	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2		NM_001080504	
SBSN	374897	hgsc.bcm.edu	37	19	36018434	36018434	+	Silent	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr19:36018434C>T	ENST00000452271.2	-	1	778	c.750G>A	c.(748-750)gcG>gcA	p.A250A	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	250	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGGCCTGCCCCGCAGCATGGT	0.627																																																	0													31.0	37.0	35.0					19																	36018434		692	1591	2283	SO:0001819	synonymous_variant	374897			AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.750G>A	19.37:g.36018434C>T			A8K5J0|E9PBV3	Silent	SNP	ENST00000452271.2	37	CCDS54253.1																																																																																				0.627	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3		NM_198538	
SLC26A4	5172	broad.mit.edu;hgsc.bcm.edu	37	7	107329537	107329537	+	Silent	SNP	G	G	A	rs140778437		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr7:107329537G>A	ENST00000265715.3	+	9	1265	c.1041G>A	c.(1039-1041)tcG>tcA	p.S347S	SLC26A4_ENST00000544569.1_5'Flank|SLC26A4_ENST00000541474.1_5'Flank	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	347					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.S347S(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCTTGTTCTCGGAGATGCTGG	0.438									Pendred syndrome																																								1	Substitution - coding silent(1)	kidney(1)						G		0,4406		0,0,2203	165.0	153.0	157.0		1041	-11.2	0.1	7	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC26A4	NM_000441.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		347/781	107329537	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1041G>A	7.37:g.107329537G>A			B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	CCDS5746.1																																																																																				0.438	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1		NM_000441	
SLC35B3	51000	broad.mit.edu;hgsc.bcm.edu	37	6	8422813	8422813	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr6:8422813C>T	ENST00000379660.4	-	5	913	c.464G>A	c.(463-465)gGt>gAt	p.G155D	SLC35B3_ENST00000339306.5_Missense_Mutation_p.G155D	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	155					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.G155D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					CCCCATAGTACCCACAGTTAG	0.373																																					Melanoma(83;700 1353 9357 11478 30548)												1	Substitution - Missense(1)	kidney(1)											118.0	112.0	114.0					6																	8422813		2203	4300	6503	SO:0001583	missense	51000			AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"""Solute carriers"""	21601	protein-coding gene	gene with protein product	"""3' phosphoadenosine 5' phosphosulfate transporter 2"""	610845	"""chromosome 6 open reading frame 196"", ""solute carrier family 35, member B3"""	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.464G>A	6.37:g.8422813C>T	ENSP00000368981:p.Gly155Asp		A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Missense_Mutation	SNP	ENST00000379660.4	37	CCDS4508.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032187	0.75504	.	.	ENSG00000124786	ENST00000379660;ENST00000339306	T;T	0.30981	1.51;1.51	5.02	5.02	0.67125	.	0.047659	0.85682	D	0.000000	T	0.49321	0.1550	M	0.84326	2.69	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.69654	0.965;0.965	T	0.52837	-0.8522	9	.	.	.	-9.2805	14.3401	0.66619	0.0:0.8518:0.1482:0.0	.	155;155	Q9H1N7;B2R8V5	S35B3_HUMAN;.	D	155	ENSP00000368981:G155D;ENSP00000345902:G155D	.	G	-	2	0	SLC35B3	8367812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.788000	0.55446	2.498000	0.84270	0.585000	0.79938	GGT		0.373	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1		NM_015948	
SLC7A5	8140	hgsc.bcm.edu	37	16	87885388	87885388	+	Silent	SNP	G	G	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr16:87885388G>A	ENST00000261622.4	-	2	671	c.606C>T	c.(604-606)gcC>gcT	p.A202A	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	202					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	GGAGCTTGGCGGCGGCAAAGG	0.682																																																	0													38.0	36.0	37.0					16																	87885388		2197	4300	6497	SO:0001819	synonymous_variant	8140			AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.606C>T	16.37:g.87885388G>A			Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Silent	SNP	ENST00000261622.4	37	CCDS10964.1																																																																																				0.682	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2		NM_003486	
SLC7A8	23428	broad.mit.edu	37	14	23635685	23635685	+	Silent	SNP	C	C	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr14:23635685C>A	ENST00000316902.7	-	2	941	c.216G>T	c.(214-216)gtG>gtT	p.V72V	SLC7A8_ENST00000469263.1_Silent_p.V72V	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	72					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)	p.V72V(1)		autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GAGCAAGGCCCACAGAACCAG	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											222.0	220.0	221.0					14																	23635685		2203	4300	6503	SO:0001819	synonymous_variant	23428			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.216G>T	14.37:g.23635685C>A			B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Silent	SNP	ENST00000316902.7	37	CCDS9590.1																																																																																				0.557	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			
SPDYE7P	441251	broad.mit.edu	37	7	72334607	72334607	+	IGR	SNP	T	T	C	rs28493684	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr7:72334607T>C								RN7SL625P (22302 upstream) : POM121 (15328 downstream)																							CCAGCCCACCTGATTCCTCCC	0.592																																																	0													101.0	80.0	87.0					7																	72334607		678	1531	2209	SO:0001628	intergenic_variant	441251																															7.37:g.72334607T>C				RNA	SNP		37																																																																																				0	0.592									
SRRM1	10250	broad.mit.edu;hgsc.bcm.edu	37	1	24993365	24993365	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:24993365C>T	ENST00000323848.9	+	13	2003	c.1688C>T	c.(1687-1689)cCc>cTc	p.P563L	SRRM1_ENST00000447431.2_Missense_Mutation_p.P575L|SRRM1_ENST00000374389.4_Missense_Mutation_p.P572L|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	563	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.P563L(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCTCCTTCTCCCGCCCCTCCT	0.527																																					Ovarian(68;897 1494 3282 17478)												1	Substitution - Missense(1)	kidney(1)											53.0	46.0	48.0					1																	24993365		2203	4300	6503	SO:0001583	missense	10250			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1688C>T	1.37:g.24993365C>T	ENSP00000326261:p.Pro563Leu		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.748964	0.69533	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.62232	0.29;0.04;0.69	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000007	T	0.79070	0.4384	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.79349	-0.1840	10	0.59425	D	0.04	-2.7618	19.3453	0.94361	0.0:1.0:0.0:0.0	.	575;563	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	L	563;575;572	ENSP00000326261:P563L;ENSP00000391430:P575L;ENSP00000363510:P572L	ENSP00000326261:P563L	P	+	2	0	SRRM1	24865952	1.000000	0.71417	0.990000	0.47175	0.559000	0.35586	5.973000	0.70456	2.654000	0.90174	0.650000	0.86243	CCC		0.527	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2		NM_005839	
SYNE2	23224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	64408465	64408465	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr14:64408465delA	ENST00000344113.4	+	4	406	c.194delA	c.(193-195)catfs	p.H65fs	SYNE2_ENST00000341472.5_Frame_Shift_Del_p.H65fs|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.H65fs|SYNE2_ENST00000356081.3_Frame_Shift_Del_p.H65fs|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Frame_Shift_Del_p.H65fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	65	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAAAGGGGCATGTCCTCCTG	0.368																																																	0													134.0	123.0	126.0					14																	64408465		1855	4111	5966	SO:0001589	frameshift_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.194delA	14.37:g.64408465delA	ENSP00000341781:p.His65fs		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Del	DEL	ENST00000344113.4	37	CCDS41963.1																																																																																				0.368	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914	
TCEAL3	85012	hgsc.bcm.edu	37	X	102864334	102864334	+	Silent	SNP	G	G	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chrX:102864334G>A	ENST00000372628.1	+	3	700	c.342G>A	c.(340-342)acG>acA	p.T114T	TCEAL3_ENST00000372627.5_Silent_p.T114T|TCEAL3_ENST00000243286.3_Silent_p.T114T|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						AAAGAAAAACGGACAGGGGGA	0.572													G|||	16	0.00423841	0.003	0.0043	3775	,	,		12865	0.001		0.004	False		,,,				2504	0.0041																0													133.0	121.0	125.0					X																	102864334		2203	4300	6503	SO:0001819	synonymous_variant	85012			BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.342G>A	X.37:g.102864334G>A			D3DXA4	Silent	SNP	ENST00000372628.1	37	CCDS14511.1																																																																																				0.572	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1		NM_032926	
TCP11	6954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	35086049	35086049	+	Silent	SNP	A	A	G			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr6:35086049A>G	ENST00000512012.1	-	9	1665	c.1509T>C	c.(1507-1509)gtT>gtC	p.V503V	TCP11_ENST00000412155.2_Silent_p.V465V|TCP11_ENST00000311875.5_Silent_p.V516V|TCP11_ENST00000244645.3_Silent_p.V441V|TCP11_ENST00000373974.4_Silent_p.V470V|TCP11_ENST00000444780.2_Silent_p.V511V|TCP11_ENST00000373979.2_Silent_p.V441V|TCP11_ENST00000418521.2_Silent_p.V440V			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	503					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.V516V(1)|p.V441V(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						GACGCTATCAAACAGACTCCA	0.512																																																	2	Substitution - coding silent(2)	kidney(2)											121.0	122.0	122.0					6																	35086049		2203	4300	6503	SO:0001819	synonymous_variant	6954				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.1509T>C	6.37:g.35086049A>G			B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Silent	SNP	ENST00000512012.1	37																																																																																					0.512	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1		NM_001093728	
TMEM41A	90407	hgsc.bcm.edu	37	3	185212513	185212513	+	Silent	SNP	A	A	G			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:185212513A>G	ENST00000421852.1	-	4	567	c.472T>C	c.(472-474)Ttg>Ctg	p.L158L	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	158						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CTCAAAAACAATAAGAAAAAA	0.428																																																	0													120.0	124.0	122.0					3																	185212513		2203	4300	6503	SO:0001819	synonymous_variant	90407			BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.472T>C	3.37:g.185212513A>G			A8K4B3|D3DNU2|Q6ZMJ0	Silent	SNP	ENST00000421852.1	37	CCDS3271.1																																																																																				0.428	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1		NM_080652	
TTN	7273	broad.mit.edu	37	2	179437576	179437576	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:179437576A>G	ENST00000591111.1	-	276	68584	c.68360T>C	c.(68359-68361)aTt>aCt	p.I22787T	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I21860T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I15488T|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I15555T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I15363T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I24428T			Q8WZ42	TITIN_HUMAN	titin	22787	Ig-like 117.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I21858T(1)|p.I15555T(1)|p.I15363T(1)|p.I21860T(1)|p.I15488T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCAGTTCAATTTCTGGAGG	0.498																																																	5	Substitution - Missense(5)	kidney(5)											85.0	87.0	86.0					2																	179437576		1945	4153	6098	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68360T>C	2.37:g.179437576A>G	ENSP00000465570:p.Ile22787Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	12.59	1.983237	0.35036	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67171	-0.25;-0.03;-0.05;-0.06	5.91	5.91	0.95273	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76011	0.3928	M	0.92077	3.27	0.52501	D	0.999953	P;P;P;P	0.46395	0.877;0.877;0.877;0.792	B;B;B;B	0.40636	0.335;0.335;0.335;0.255	T	0.83306	-0.0025	9	0.87932	D	0	.	16.3436	0.83110	1.0:0.0:0.0:0.0	.	15363;15488;15555;22787	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	21860;15363;15555;15488;15361	ENSP00000343764:I21860T;ENSP00000434586:I15363T;ENSP00000340554:I15555T;ENSP00000352154:I15488T	ENSP00000340554:I15555T	I	-	2	0	TTN	179145822	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.281000	0.95811	2.269000	0.75478	0.533000	0.62120	ATT		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TTN	7273	broad.mit.edu;hgsc.bcm.edu	37	2	179449638	179449638	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr2:179449638C>T	ENST00000591111.1	-	260	60031	c.59807G>A	c.(59806-59808)tGc>tAc	p.C19936Y	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C19009Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C12637Y|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C12704Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.C12512Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.C21577Y			Q8WZ42	TITIN_HUMAN	titin	19936	Fibronectin type-III 44. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.C12637Y(1)|p.C19009Y(1)|p.C12512Y(1)|p.C12704Y(1)|p.C19007Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACAGGGAGCAAGCATCAGC	0.498																																																	5	Substitution - Missense(5)	kidney(5)											68.0	69.0	69.0					2																	179449638		1967	4159	6126	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59807G>A	2.37:g.179449638C>T	ENSP00000465570:p.Cys19936Tyr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	17.78	3.472549	0.63737	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74596	0.3737	M	0.81614	2.55	0.80722	D	1	D;D;D;D	0.61697	0.99;0.99;0.99;0.99	P;P;P;P	0.62184	0.899;0.899;0.899;0.899	T	0.75622	-0.3254	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	12512;12637;12704;19936	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	19009;12512;12704;12637;12510	ENSP00000343764:C19009Y;ENSP00000434586:C12512Y;ENSP00000340554:C12704Y;ENSP00000352154:C12637Y	ENSP00000340554:C12704Y	C	-	2	0	TTN	179157884	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TGC		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UBR4	23352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	19407977	19407977	+	Silent	SNP	G	G	A	rs138176260	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:19407977G>A	ENST00000375254.3	-	103	15126	c.15099C>T	c.(15097-15099)gaC>gaT	p.D5033D	UBR4_ENST00000375267.2_Silent_p.D5033D|AL137127.1_ENST00000582644.1_RNA|UBR4_ENST00000375226.2_Silent_p.D5009D|UBR4_ENST00000375217.2_Silent_p.D5026D|UBR4_ENST00000429347.2_Silent_p.D556D|UBR4_ENST00000375225.3_Silent_p.D108D|UBR4_ENST00000543981.1_Silent_p.D697D|UBR4_ENST00000375224.1_Silent_p.D740D	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5033					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D5033D(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGTAGGGCCCGTCCACTTCAA	0.552													G|||	3	0.000599042	0.0	0.0	5008	,	,		17662	0.0		0.003	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)						G		0,4406		0,0,2203	178.0	181.0	180.0		15099	-8.7	0.6	1	dbSNP_134	180	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	UBR4	NM_020765.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		5033/5184	19407977	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.15099C>T	1.37:g.19407977G>A			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.552	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765	
LINC00958	100506305	broad.mit.edu	37	11	13001936	13001936	+	lincRNA	DEL	A	A	-			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:13001936delA	ENST00000504230.2	-	0	703					NR_038904.1				long intergenic non-protein coding RNA 958																		AGTCAGAAATAAAACGTGAGC	0.428																																																	0																																												0			AK001432		11p15.2	2014-02-04			ENSG00000251381	ENSG00000251381		"""Long non-coding RNAs"""	48671	non-coding RNA	RNA, long non-coding							Standard	NR_038904		Approved				OTTHUMG00000165904		11.37:g.13001936delA				RNA	DEL	ENST00000504230.2	37																																																																																					0.428	LINC00958-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000386997.1			
Unknown	0	broad.mit.edu	37	1	148891580	148891580	+	IGR	SNP	A	A	T	rs374678179		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:148891580A>T								RP11-763B22.6 (37863 upstream) : RNA5SP59 (21692 downstream)																							GAATCAGGGAAGACTCAGTTA	0.358																																																	0																																										SO:0001628	intergenic_variant	0																															1.37:g.148891580A>T				RNA	SNP		37																																																																																				0	0.358									
Unknown	0	broad.mit.edu	37	1	148891643	148891643	+	IGR	SNP	A	A	G	rs200975583		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:148891643A>G								RP11-763B22.6 (37926 upstream) : RNA5SP59 (21629 downstream)																							CCAAAACTGAAATTGAAGATT	0.423																																																	0																																										SO:0001628	intergenic_variant	0																															1.37:g.148891643A>G				RNA	SNP		37																																																																																				0	0.423									
GOLGA2P9	440518	broad.mit.edu	37	19	22785425	22785425	+	RNA	SNP	G	G	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr19:22785425G>A	ENST00000599738.1	+	0	0				CTC-457E21.3_ENST00000600260.1_RNA|AC011467.1_ENST00000408863.1_RNA|RN7SL860P_ENST00000473738.2_RNA																							TGCAGCTGATGCAGGAAAAGG	0.577																																																	0																																												0																															19.37:g.22785425G>A				RNA	SNP	ENST00000599738.1	37																																																																																					0.577	CTC-457E21.6-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000464575.1			
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G				RNA	SNP	ENST00000412938.1	37																																																																																					0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			
VCX2	51480	hgsc.bcm.edu	37	X	8138170	8138170	+	Missense_Mutation	SNP	C	C	G	rs75657421		TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chrX:8138170C>G	ENST00000317103.4	-	3	629	c.323G>C	c.(322-324)aGc>aCc	p.S108T		NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN	variable charge, X-linked 2	108	2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.			S -> A (in Ref. 1; AAG41765, 2; AAF28172 and 4; AAH98113/AAH96715/AAH98163). {ECO:0000305}.						endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				TTCCACCTCGCTCTCCTGACT	0.642													G|||	3056	0.809536	0.5908	0.6427	3775	,	,		3228	0.7192		0.5775	False		,,,				2504	0.5348																0													35.0	44.0	41.0					X																	8138170		1777	3690	5467	SO:0001583	missense	51480			AF159127	CCDS35200.1	Xp22.32	2008-02-05			ENSG00000177504	ENSG00000177504			18158	protein-coding gene	gene with protein product		300532				10607842	Standard	NM_016378		Approved	VCX-2r, VCX-2R	uc004csb.3	Q9H322	OTTHUMG00000021105	ENST00000317103.4:c.323G>C	X.37:g.8138170C>G	ENSP00000321309:p.Ser108Thr		A3KPB6|Q4V9T2|Q9P0H5	Missense_Mutation	SNP	ENST00000317103.4	37	CCDS35200.1	1050	0.6329113924050633	144	0.38095238095238093	131	0.5646551724137931	216	0.6352941176470588	227	0.40827338129496404	G	0.003	-2.558529	0.00136	.	.	ENSG00000177504	ENST00000317103	T	0.14022	2.54	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41466	-0.9507	7	0.02654	T	1	.	.	.	.	.	108	Q9H322	VCX2_HUMAN	T	108	ENSP00000321309:S108T	ENSP00000321309:S108T	S	-	2	0	VCX2	8098170	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.361000	0.07612	-1.450000	0.01936	-1.461000	0.01025	AGC		0.642	VCX2-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055690.1		NM_016378	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191485	10191485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr3:10191485G>T	ENST00000256474.2	+	3	1318	c.478G>T	c.(478-480)Gag>Tag	p.E160*	VHL_ENST00000345392.2_Nonsense_Mutation_p.E119*|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	160	Interaction with Elongin BC complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E160K(5)|p.E160*(4)|p.E160fs*14(2)|p.E160fs*9(1)|p.K159fs*13(1)|p.V155_K159delVYTLK(1)|p.E160del(1)|p.L158fs*6(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TACTCTGAAAGAGCGATGCCT	0.502		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	16	Substitution - Missense(5)|Substitution - Nonsense(4)|Deletion - In frame(2)|Deletion - Frameshift(2)|Complex - frameshift(2)|Insertion - Frameshift(1)	kidney(15)|large_intestine(1)											91.0	83.0	86.0					3																	10191485		2203	4300	6503	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.478G>T	3.37:g.10191485G>T	ENSP00000256474:p.Glu160*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833722	0.71258	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.86	3.98	0.46160	.	0.110897	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.3977	10.9704	0.47436	0.0909:0.0:0.9091:0.0	.	.	.	.	X	160;119;78	.	ENSP00000256474:E160X	E	+	1	0	VHL	10166485	1.000000	0.71417	0.991000	0.47740	0.649000	0.38597	7.062000	0.76706	1.404000	0.46819	0.655000	0.94253	GAG		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WDR73	84942	hgsc.bcm.edu;ucsc.edu	37	15	85186877	85186894	+	In_Frame_Del	DEL	CTTGGCTCCGTGTTCCAT	CTTGGCTCCGTGTTCCAT	-	rs370347033|rs373448317|rs11267906|rs372798651|rs199676984	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	CTTGGCTCCGTGTTCCAT	CTTGGCTCCGTGTTCCAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr15:85186877_85186894delCTTGGCTCCGTGTTCCAT	ENST00000434634.2	-	8	1004_1021	c.944_961delATGGAACACGGAGCCAAG	c.(943-963)gatggaacacggagccaagta>gta	p.DGTRSQ315del	SCAND2P_ENST00000348993.5_RNA|WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	315										cervix(1)|large_intestine(1)|lung(1)	3						AGAGGTTCTACTTGGCTCCGTGTTCCATCTTGGCTCCG	0.509														794	0.158546	0.1399	0.1383	5008	,	,		21272	0.0843		0.2038	False		,,,				2504	0.228																0										344,3500		48,248,1626						-0.4	0.0		dbSNP_120	111	1220,6750		177,866,2942	no	coding	WDR73	NM_032856.2		225,1114,4568	A1A1,A1R,RR		15.3074,8.949,13.2385				1564,10250				SO:0001651	inframe_deletion	84942			AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.944_961delATGGAACACGGAGCCAAG	15.37:g.85186877_85186894delCTTGGCTCCGTGTTCCAT	ENSP00000387982:p.Asp315_Gln320del		Q96JZ1|Q9P0B7	In_Frame_Del	DEL	ENST00000434634.2	37	CCDS45339.1																																																																																				0.509	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1		NM_032856	
ZBED5	58486	broad.mit.edu;ucsc.edu	37	11	10875055	10875055	+	Missense_Mutation	SNP	T	T	C	rs1046297	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr11:10875055T>C	ENST00000432999.2	-	3	1936	c.1438A>G	c.(1438-1440)Att>Gtt	p.I480V	ZBED5_ENST00000525350.1_Intron|ZBED5_ENST00000413761.2_Missense_Mutation_p.I480V	NM_001143667.1|NM_021211.3	NP_001137139.1|NP_067034.2	Q49AG3	ZBED5_HUMAN	zinc finger, BED-type containing 5	480			I -> V (in dbSNP:rs1046297). {ECO:0000269|PubMed:10607616}.				DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I480V(2)		breast(1)|endometrium(2)|kidney(1)	4						ttagtaaaaatatctgcaaga	0.308													T|||	79	0.0157748	0.0038	0.0317	5008	,	,		19386	0.0		0.0467	False		,,,				2504	0.0051																2	Substitution - Missense(2)	kidney(2)						T	VAL/ILE,VAL/ILE	8,1376		0,8,684	23.0	21.0	21.0		1438,1438	4.1	1.0	11	dbSNP_86	21	103,3075		0,103,1486	yes	missense,missense	ZBED5	NM_001143667.1,NM_021211.3	29,29	0,111,2170	CC,CT,TT		3.241,0.578,2.4331	possibly-damaging,possibly-damaging	480/694,480/694	10875055	111,4451	692	1589	2281	SO:0001583	missense	58486			AF205601		11p15.3	2013-05-03			ENSG00000236287	ENSG00000236287		"""Zinc fingers, BED-type"""	30803	protein-coding gene	gene with protein product		615251				10607616, 23533661	Standard	NM_021211		Approved	Buster1	uc009ygh.3	Q49AG3	OTTHUMG00000150341	ENST00000432999.2:c.1438A>G	11.37:g.10875055T>C	ENSP00000398106:p.Ile480Val		B2RCC1|Q05D82|Q86WW3|Q9NT24|Q9UBJ4	Missense_Mutation	SNP	ENST00000432999.2	37		40	0.018315018315018316	4	0.008130081300813009	12	0.03314917127071823	0	0.0	24	0.0316622691292876	T	12.86	2.065177	0.36470	0.00578	0.03241	ENSG00000236287	ENST00000432999;ENST00000413761	T;T	0.24723	1.84;1.84	4.1	4.1	0.47936	Ribonuclease H-like (1);	.	.	.	.	T	0.16769	0.0403	M	0.74647	2.275	0.25592	N	0.986683	D	0.54207	0.965	P	0.52514	0.701	T	0.05289	-1.0894	9	0.32370	T	0.25	.	9.749	0.40464	0.0:0.0:0.0:1.0	rs1046297;rs3168055;rs52820898;rs1046297	480	Q49AG3	ZBED5_HUMAN	V	480	ENSP00000398106:I480V;ENSP00000415939:I480V	ENSP00000415939:I480V	I	-	1	0	ZBED5	10831631	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.699000	0.47077	2.076000	0.62316	0.528000	0.53228	ATT		0.308	ZBED5-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000317691.1		NM_021211	
ZNF354A	6940	hgsc.bcm.edu;ucsc.edu	37	5	178139394	178139394	+	Silent	SNP	T	T	C	rs191516498	byFrequency	TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr5:178139394T>C	ENST00000335815.2	-	5	1682	c.1485A>G	c.(1483-1485)aaA>aaG	p.K495K		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	495					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ACTCGTTACATTTATAGGGTC	0.393																																																	0													121.0	118.0	119.0					5																	178139394		2203	4300	6503	SO:0001819	synonymous_variant	6940			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1485A>G	5.37:g.178139394T>C			Q9UNJ8	Silent	SNP	ENST00000335815.2	37	CCDS4438.1																																																																																				0.393	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1		NM_005649	
MTOR	2475	broad.mit.edu	37	1	11188100	11188100	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:11188100C>G	ENST00000361445.4	-	43	6070	c.5994G>C	c.(5992-5994)atG>atC	p.M1998I	MTOR_ENST00000376838.1_Missense_Mutation_p.M203I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1998					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.M1998I(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGTGCTCACACATGTTCTTCA	0.562																																						.											1	Substitution - Missense(1)	kidney(1)											146.0	143.0	144.0					1																	11188100		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5994G>C	1.37:g.11188100C>G	ENSP00000354558:p.Met1998Ile		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143640	0.77888	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.79653	0.0;-1.29	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.87042	0.6079	M	0.72479	2.2	0.80722	D	1	P	0.50369	0.934	P	0.53146	0.719	D	0.87476	0.2417	10	0.66056	D	0.02	-11.0374	20.063	0.97692	0.0:1.0:0.0:0.0	.	1998	P42345	MTOR_HUMAN	I	1998;203	ENSP00000354558:M1998I;ENSP00000366034:M203I	ENSP00000354558:M1998I	M	-	3	0	MTOR	11110687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.735000	0.93741	0.655000	0.94253	ATG		0.562	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		NM_004958	
ZP4	57829	broad.mit.edu;ucsc.edu	37	1	238045723	238045723	+	Nonstop_Mutation	SNP	T	T	A			TCGA-CJ-4644-01A-02D-1386-10	TCGA-CJ-4644-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f2888fb-ae20-4347-87dc-f0eeeeb9b0d5	2c245ee8-d654-497e-b55f-6ecaf733379d	g.chr1:238045723T>A	ENST00000366570.4	-	12	1780	c.1622A>T	c.(1621-1623)tAa>tTa	p.*541L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	0					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.*541L(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACTCTGGTTTTATTGACACAT	0.428																																					NSCLC(166;160 2029 11600 18754 19936)												1	Nonstop extension(1)	kidney(1)											136.0	139.0	138.0					1																	238045723		2203	4300	6503	SO:0001578	stop_lost	57829			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1622A>T	1.37:g.238045723T>A			B2RAE1	Nonstop_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	T	8.116	0.779827	0.16120	.	.	ENSG00000116996	ENST00000366570	.	.	.	3.49	1.03	0.20045	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0422	0.19740	0.4221:0.0:0.0:0.5779	.	.	.	.	L	541	.	.	X	-	2	2	ZP4	236112346	0.996000	0.38824	0.621000	0.29145	0.035000	0.12851	1.223000	0.32527	0.193000	0.20303	0.459000	0.35465	TAA		0.428	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			
