#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABCA10	10349	hgsc.bcm.edu;ucsc.edu	37	17	67186562	67186562	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr17:67186562delA	ENST00000269081.4	-	19	2977	c.2068delT	c.(2068-2070)tcafs	p.S690fs	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	690					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GATGTCACTGAAACAGCATAA	0.328																																																	0													101.0	96.0	98.0					17																	67186562		2203	4299	6502	SO:0001589	frameshift_variant	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2068delT	17.37:g.67186562delA	ENSP00000269081:p.Ser690fs	Somatic		WXS	Illumina HiSeq	Phase_I	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Frame_Shift_Del	DEL	ENST00000269081.4	37	CCDS11684.1																																																																																				0.328	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4		NM_080282	
ALG12	79087	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50303615	50303615	+	Silent	SNP	C	C	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr22:50303615C>T	ENST00000330817.6	-	5	864	c.591G>A	c.(589-591)ctG>ctA	p.L197L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	197					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)	p.L197L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TGCCCAAGGCCAGCAGCAGCA	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											67.0	66.0	66.0					22																	50303615		2203	4300	6503	SO:0001819	synonymous_variant	79087			AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.591G>A	22.37:g.50303615C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Silent	SNP	ENST00000330817.6	37	CCDS14081.1																																																																																				0.612	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2		NM_024105	
ALMS1	7840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	73651718	73651718	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr2:73651718C>A	ENST00000264448.6	+	5	1036	c.925C>A	c.(925-927)Cag>Aag	p.Q309K	ALMS1_ENST00000377715.1_Missense_Mutation_p.Q309K|ALMS1_ENST00000409009.1_Missense_Mutation_p.Q267K	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	309					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.Q309K(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGTTGGGTCTCAGTGCCCTTT	0.433																																																	1	Substitution - Missense(1)	kidney(1)											83.0	78.0	80.0					2																	73651718		1885	4114	5999	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.925C>A	2.37:g.73651718C>A	ENSP00000264448:p.Gln309Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	9.260	1.043064	0.19748	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.14516	3.38;3.38;2.5	5.16	5.16	0.70880	.	0.473923	0.15889	N	0.239623	T	0.14614	0.0353	L	0.36672	1.1	0.09310	N	0.999992	P;P	0.42908	0.793;0.793	B;B	0.40940	0.344;0.344	T	0.10109	-1.0644	10	0.62326	D	0.03	.	14.8678	0.70430	0.0:1.0:0.0:0.0	.	267;309	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	K	267;309;309	ENSP00000386627:Q267K;ENSP00000264448:Q309K;ENSP00000366944:Q309K	ENSP00000264448:Q309K	Q	+	1	0	ALMS1	73505226	0.979000	0.34478	0.190000	0.23270	0.155000	0.21991	3.610000	0.54125	2.792000	0.96026	0.557000	0.71058	CAG		0.433	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		NM_015120	
AMHR2	269	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53819616	53819616	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr12:53819616C>A	ENST00000257863.4	+	6	845	c.765C>A	c.(763-765)gaC>gaA	p.D255E	AMHR2_ENST00000379791.3_Missense_Mutation_p.D255E|AMHR2_ENST00000550311.1_Missense_Mutation_p.D255E	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.D255E(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TACAGCACGACCACATTGTCC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											70.0	61.0	64.0					12																	53819616		2203	4300	6503	SO:0001583	missense	269			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.765C>A	12.37:g.53819616C>A	ENSP00000257863:p.Asp255Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844744	0.51164	.	.	ENSG00000135409	ENST00000257863;ENST00000550311;ENST00000379791	D;D;D	0.92911	-3.13;-3.13;-3.13	5.66	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.563039	0.14981	N	0.287248	T	0.80742	0.4681	N	0.05012	-0.13	0.33608	D	0.603216	B;B	0.13594	0.006;0.008	B;B	0.19391	0.009;0.025	T	0.73075	-0.4097	10	0.02654	T	1	.	12.4837	0.55859	0.0:0.8082:0.1918:0.0	.	255;255	F8W1D2;Q16671	.;AMHR2_HUMAN	E	255	ENSP00000257863:D255E;ENSP00000446661:D255E;ENSP00000369117:D255E	ENSP00000257863:D255E	D	+	3	2	AMHR2	52105883	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.126000	0.31344	1.530000	0.49136	0.655000	0.94253	GAC		0.587	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1		NM_020547	
C9orf66	157983	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	214612	214612	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr9:214612C>A	ENST00000382387.2	-	1	1281	c.785G>T	c.(784-786)cGg>cTg	p.R262L	DOCK8_ENST00000432829.2_5'Flank|DOCK8_ENST00000453981.1_5'Flank	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	262	Arg-rich.							p.R262L(1)		central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	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)		ATGGAGCTTCCGGCCTGCGCG	0.716																																																	1	Substitution - Missense(1)	kidney(1)											22.0	23.0	22.0					9																	214612		2203	4300	6503	SO:0001583	missense	157983			AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.785G>T	9.37:g.214612C>A	ENSP00000371824:p.Arg262Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q96NB0	Missense_Mutation	SNP	ENST00000382387.2	37	CCDS6439.1	.	.	.	.	.	.	.	.	.	.	.	11.03	1.520304	0.27211	.	.	ENSG00000183784	ENST00000382387	T	0.20332	2.08	3.56	3.56	0.40772	.	.	.	.	.	T	0.25121	0.0610	N	0.08118	0	0.23473	N	0.997607	D	0.89917	1.0	D	0.77557	0.99	T	0.14671	-1.0464	9	0.87932	D	0	.	10.9351	0.47241	0.0:1.0:0.0:0.0	.	262	Q5T8R8	CI066_HUMAN	L	262	ENSP00000371824:R262L	ENSP00000371824:R262L	R	-	2	0	C9orf66	204612	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	3.106000	0.50322	2.278000	0.76064	0.484000	0.47621	CGG		0.716	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1		NM_152569	
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201047117	201047117	+	Silent	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr1:201047117C>A	ENST00000362061.3	-	11	1735	c.1509G>T	c.(1507-1509)gtG>gtT	p.V503V	CACNA1S_ENST00000367338.3_Silent_p.V503V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	503					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.V503V(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)	CGCTACACACCACGAAGCAGT	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											119.0	95.0	103.0					1																	201047117		2203	4300	6503	SO:0001819	synonymous_variant	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.1509G>T	1.37:g.201047117C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																				0.582	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069	
CCDC157	550631	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30766353	30766353	+	Silent	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr22:30766353C>A	ENST00000405659.1	+	5	1168	c.459C>A	c.(457-459)ccC>ccA	p.P153P	CCDC157_ENST00000338306.3_Silent_p.P153P			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	153								p.P102P(1)|p.P153P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CCTCCAAGCCCACCACCAAGG	0.567																																																	2	Substitution - coding silent(2)	kidney(2)											137.0	148.0	145.0					22																	30766353		2203	4300	6503	SO:0001819	synonymous_variant	550631			BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.459C>A	22.37:g.30766353C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q0VD76|Q9BYA4	Silent	SNP	ENST00000405659.1	37	CCDS33632.2																																																																																				0.567	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1		NM_001017437	
CD22	933	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	35831892	35831892	+	Missense_Mutation	SNP	G	G	C	rs369908101		TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr19:35831892G>C	ENST00000085219.5	+	7	1424	c.1358G>C	c.(1357-1359)cGg>cCg	p.R453P	CD22_ENST00000419549.2_Missense_Mutation_p.R281P|CD22_ENST00000341773.6_Missense_Mutation_p.R276P|CD22_ENST00000594250.1_Missense_Mutation_p.R276P|CD22_ENST00000536635.2_Missense_Mutation_p.R365P|CD22_ENST00000544992.2_Missense_Mutation_p.R453P|CD22_ENST00000270311.6_Missense_Mutation_p.R333P	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	453	Ig-like C2-type 4.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.R453P(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGTGTTACCCGGTATGAATGG	0.532																																					Ovarian(42;1009 1133 23674 26041)												1	Substitution - Missense(1)	kidney(1)											93.0	84.0	87.0					19																	35831892		2203	4300	6503	SO:0001583	missense	933			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1358G>C	19.37:g.35831892G>C	ENSP00000085219:p.Arg453Pro	Somatic		WXS	Illumina HiSeq	Phase_I	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151747	0.38021	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311;ENST00000419549	D;D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13;-2.13	4.94	-3.75	0.04372	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.290120	0.01050	N	0.004456	D	0.89040	0.6602	L	0.47716	1.5	0.09310	N	1	P;P;D;D;D	0.63046	0.939;0.947;0.992;0.984;0.968	P;P;D;P;P	0.64237	0.8;0.713;0.923;0.858;0.579	T	0.78518	-0.2173	10	0.36615	T	0.2	.	7.104	0.25353	0.4422:0.1147:0.4431:0.0	.	281;453;365;453;276	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	P	453;365;276;453;333;281	ENSP00000085219:R453P;ENSP00000442279:R365P;ENSP00000339349:R276P;ENSP00000441237:R453P;ENSP00000270311:R333P;ENSP00000403822:R281P	ENSP00000085219:R453P	R	+	2	0	CD22	40523732	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.077000	0.01371	-1.114000	0.02977	-2.069000	0.00389	CGG		0.532	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1		NM_001771	
CD300E	342510	broad.mit.edu;hgsc.bcm.edu	37	17	72613604	72613604	+	Splice_Site	SNP	C	C	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr17:72613604C>G	ENST00000328630.3	-	2	81	c.41G>C	c.(40-42)gGc>gCc	p.G14A	CD300E_ENST00000392619.1_Splice_Site_p.G41A|CD300E_ENST00000426295.2_Splice_Site_p.G55A			Q496F6	CLM2_HUMAN	CD300e molecule	14					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G14A(1)|p.G55A(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						AGACAAACAGCCTGGAAAACA	0.557																																																	2	Substitution - Missense(2)	kidney(2)											36.0	32.0	33.0					17																	72613604		2203	4300	6503	SO:0001630	splice_region_variant	342510			BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.41-1G>C	17.37:g.72613604C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584111	0.65992	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630;ENST00000412268	T;T;T;T	0.08896	3.59;3.59;3.62;3.04	4.62	3.64	0.41730	Immunoglobulin-like (1);	0.000000	0.41194	D	0.000937	T	0.21227	0.0511	M	0.75777	2.31	0.29568	N	0.850123	D	0.76494	0.999	D	0.63703	0.917	T	0.01413	-1.1361	10	0.42905	T	0.14	.	7.7141	0.28694	0.0:0.8881:0.0:0.1119	.	14	Q496F6	CLM2_HUMAN	A	41;55;14;16	ENSP00000376395:G41A;ENSP00000416642:G55A;ENSP00000329942:G14A;ENSP00000415488:G16A	ENSP00000329942:G14A	G	-	2	0	CD300E	70125199	0.890000	0.30428	0.976000	0.42696	0.900000	0.52787	1.107000	0.31110	2.508000	0.84585	0.467000	0.42956	GGC		0.557	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_181449	Missense_Mutation
CMTM1	113540	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	66612797	66612797	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr16:66612797A>G	ENST00000457188.2	+	4	524	c.403A>G	c.(403-405)Agg>Ggg	p.R135G	CMTM1_ENST00000529506.1_Missense_Mutation_p.R36G|CMTM1_ENST00000328020.6_3'UTR|CMTM1_ENST00000531885.1_3'UTR|CMTM1_ENST00000336328.6_Missense_Mutation_p.R82G|CKLF-CMTM1_ENST00000527729.1_Missense_Mutation_p.R81G|CMTM1_ENST00000528324.1_3'UTR|CMTM1_ENST00000533953.1_Missense_Mutation_p.R204G|CMTM2_ENST00000379486.2_5'Flank|CMTM1_ENST00000332695.7_Missense_Mutation_p.R88G|RP11-403P17.2_ENST00000568430.1_RNA|CMTM2_ENST00000268595.2_5'Flank|CMTM1_ENST00000379500.2_Missense_Mutation_p.R252G|CMTM1_ENST00000533666.1_3'UTR	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	135	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.R252G(1)|p.R82G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CACGAAGATGAGGACCAACTT	0.562																																																	2	Substitution - Missense(2)	kidney(2)											170.0	146.0	154.0					16																	66612797		2201	4300	6501	SO:0001583	missense	113540			AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.403A>G	16.37:g.66612797A>G	ENSP00000405729:p.Arg135Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Missense_Mutation	SNP	ENST00000457188.2	37	CCDS45503.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.989184	0.53934	.	.	ENSG00000254788;ENSG00000089505;ENSG00000089505;ENSG00000089505;ENSG00000089505;ENSG00000089505	ENST00000527729;ENST00000332695;ENST00000336328;ENST00000457188;ENST00000533953;ENST00000379500	T;T;T;T;T	0.60424	0.19;0.61;1.8;0.53;1.76	4.13	4.13	0.48395	Marvel (1);	.	.	.	.	T	0.66867	0.2833	L	0.46157	1.445	0.34056	D	0.656733	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.80764	0.976;0.993;0.988;0.994	T	0.74581	-0.3618	9	0.59425	D	0.04	-23.3794	9.8366	0.40973	1.0:0.0:0.0:0.0	.	252;88;82;135	Q6PEV5;Q8IZ96-5;Q8IZ96-6;Q8IZ96	.;.;.;CKLF1_HUMAN	G	81;88;82;135;204;252	ENSP00000331428:R88G;ENSP00000337119:R82G;ENSP00000405729:R135G;ENSP00000435786:R204G;ENSP00000368814:R252G	ENSP00000433998:R81G	R	+	1	2	CMTM1;CKLF-CMTM1	65170298	0.814000	0.29104	0.033000	0.17914	0.014000	0.08584	3.514000	0.53422	2.089000	0.63090	0.454000	0.30748	AGG		0.562	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2		NM_052999	
COLEC12	81035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	480713	480713	+	Silent	SNP	G	G	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr18:480713G>T	ENST00000400256.3	-	2	259	c.52C>A	c.(52-54)Cgg>Agg	p.R18R		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	18					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.R18R(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCACCAAACCGCTTGTAACCG	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											222.0	138.0	167.0					18																	480713		2203	4300	6503	SO:0001819	synonymous_variant	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.52C>A	18.37:g.480713G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000400256.3	37	CCDS32782.1																																																																																				0.552	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			
DCAF13	25879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	104444966	104444966	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr8:104444966A>T	ENST00000297579.5	+	7	1515	c.1238A>T	c.(1237-1239)tAt>tTt	p.Y413F	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	261					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.Y413F(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AATGAAGATTATAAGTAAGTT	0.313																																																	1	Substitution - Missense(1)	kidney(1)											72.0	78.0	76.0					8																	104444966		2202	4296	6498	SO:0001583	missense	25879			AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1238A>T	8.37:g.104444966A>T	ENSP00000297579:p.Tyr413Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.154053	0.38021	.	.	ENSG00000164934	ENST00000297579	T	0.01295	5.04	5.45	4.26	0.50523	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.125796	0.56097	N	0.000030	T	0.01800	0.0057	L	0.43598	1.365	0.80722	D	1	B	0.12630	0.006	B	0.17979	0.02	T	0.55761	-0.8090	10	0.34782	T	0.22	-9.8158	9.946	0.41609	0.7288:0.0:0.0:0.2712	.	261	Q9NV06	DCA13_HUMAN	F	413	ENSP00000297579:Y413F	ENSP00000297579:Y413F	Y	+	2	0	DCAF13	104514142	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	5.479000	0.66813	0.954000	0.37851	0.460000	0.39030	TAT		0.313	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2		NM_015420	
DDR1	780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	30866812	30866812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr6:30866812C>T	ENST00000324771.8	+	19	3147	c.2599C>T	c.(2599-2601)Cag>Tag	p.Q867*	DDR1_ENST00000454612.2_Nonsense_Mutation_p.Q830*|DDR1_ENST00000418800.2_Nonsense_Mutation_p.Q830*|DDR1_ENST00000376575.3_Nonsense_Mutation_p.Q873*|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000513240.1_Nonsense_Mutation_p.Q873*|DDR1_ENST00000508312.1_Nonsense_Mutation_p.Q848*|DDR1_ENST00000376568.3_Nonsense_Mutation_p.Q867*|DDR1_ENST00000376567.2_Nonsense_Mutation_p.Q830*|DDR1_ENST00000376569.3_Nonsense_Mutation_p.Q830*|DDR1_ENST00000452441.1_Nonsense_Mutation_p.Q867*|DDR1_ENST00000376570.4_Nonsense_Mutation_p.Q830*|DDR1_ENST00000361741.4_Intron			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	867	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			QLTDEQVIENAGEFFRDQGRQ -> SAHRRAGHRERGGVLP GPGPA (in Ref. 6; CAA66871). {ECO:0000305}.	branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Q873*(1)|p.Q829*(1)|p.Q867*(1)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCAGGGCCGGCAGGTCAGAGT	0.602																																																	3	Substitution - Nonsense(3)	kidney(3)											50.0	51.0	50.0					6																	30866812		2203	4300	6503	SO:0001587	stop_gained	780			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2599C>T	6.37:g.30866812C>T	ENSP00000318217:p.Gln867*	Somatic		WXS	Illumina HiSeq	Phase_I	B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Nonsense_Mutation	SNP	ENST00000324771.8	37	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	C	43	10.277597	0.99373	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240	.	.	.	4.92	4.92	0.64577	.	0.071624	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	15.636	0.76953	0.0:1.0:0.0:0.0	.	.	.	.	X	867;830;830;830;873;830;867;867;848;830;873	.	ENSP00000318217:Q867X	Q	+	1	0	DDR1	30974791	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.722000	0.84778	2.288000	0.76882	0.467000	0.42956	CAG		0.602	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3		NM_013994	
DISP1	84976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	223178702	223178702	+	Silent	SNP	T	T	C			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr1:223178702T>C	ENST00000284476.6	+	8	4127	c.3963T>C	c.(3961-3963)gcT>gcC	p.A1321A		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1321					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A1321A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CACACCAAGCTGTCGAGGGCT	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											77.0	70.0	72.0					1																	223178702		2203	4300	6503	SO:0001819	synonymous_variant	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3963T>C	1.37:g.223178702T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	CCDS1536.1																																																																																				0.572	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1		NM_032890	
DNMT3A	1788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	25467122	25467122	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr2:25467122T>G	ENST00000264709.3	-	15	2090	c.1753A>C	c.(1753-1755)Atg>Ctg	p.M585L	DNMT3A_ENST00000380746.4_Missense_Mutation_p.M396L|DNMT3A_ENST00000402667.1_Missense_Mutation_p.M362L|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.M585L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	585	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.M585L(1)|p.M396L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCCGCACATGTAGCAGTTC	0.612			"""Mis, F, N, S"""		AML																																			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	2	Substitution - Missense(2)	kidney(2)											27.0	31.0	30.0					2																	25467122		2203	4300	6503	SO:0001583	missense	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1753A>C	2.37:g.25467122T>G	ENSP00000264709:p.Met585Leu	Somatic		WXS	Illumina HiSeq	Phase_I	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.989681	0.53934	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	5.3	5.3	0.74995	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	N	0.25957	0.775	0.80722	D	1	B;P	0.36837	0.13;0.571	B;B	0.38296	0.141;0.27	T	0.57522	-0.7797	10	0.23302	T	0.38	-11.9617	14.0802	0.64917	0.0:0.0:0.0:1.0	.	585;396	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	L	396;585;585;362	ENSP00000370122:M396L;ENSP00000324375:M585L;ENSP00000264709:M585L;ENSP00000384237:M362L	ENSP00000264709:M585L	M	-	1	0	DNMT3A	25320626	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.220000	0.72237	1.998000	0.58463	0.533000	0.62120	ATG		0.612	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1		NM_022552	
DRD2	1813	broad.mit.edu;hgsc.bcm.edu	37	11	113295088	113295088	+	Splice_Site	SNP	C	C	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr11:113295088C>T	ENST00000362072.3	-	2	630		c.e2+1		DRD2_ENST00000544518.1_Missense_Mutation_p.V96I|DRD2_ENST00000346454.3_Splice_Site|DRD2_ENST00000535984.1_Splice_Site|DRD2_ENST00000355319.2_Splice_Site|DRD2_ENST00000538967.1_Splice_Site|DRD2_ENST00000542968.1_Splice_Site	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2						activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGCCCACCTACCTCCAGGTAG	0.612																																																	1	Unknown(1)	kidney(1)											51.0	46.0	48.0					11																	113295088		2200	4295	6495	SO:0001630	splice_region_variant	1813			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.285+1G>A	11.37:g.113295088C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9NZR3|Q9UPA9	Splice_Site	SNP	ENST00000362072.3	37	CCDS8361.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.371696|4.371696	0.82573|0.82573	.|.	.|.	ENSG00000149295|ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000542968;ENST00000538967;ENST00000543292|ENST00000544518	.|T	.|0.73897	.|-0.79	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70448	.|0.3225	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.17433	.|0.018	.|T	.|0.65413	.|-0.6174	.|8	.|0.44086	.|T	.|0.13	.|.	18.9437|18.9437	0.92613|0.92613	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|96	.|F8VUV1	.|.	.|I	-1|96	.|ENSP00000441068:V96I	.|ENSP00000441068:V96I	.|V	-|-	.|1	.|0	DRD2|DRD2	112800298|112800298	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.758000|7.758000	0.85224|0.85224	2.469000|2.469000	0.83416|0.83416	0.561000|0.561000	0.74099|0.74099	.|GTA		0.612	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1		NM_000795	Intron
EMILIN1	11117	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27305157	27305157	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr2:27305157A>T	ENST00000380320.4	+	4	1217	c.718A>T	c.(718-720)Atc>Ttc	p.I240F		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	240					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.I240F(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCAATGAGATCCAGCACCA	0.657																																																	1	Substitution - Missense(1)	kidney(1)											30.0	34.0	32.0					2																	27305157		2203	4299	6502	SO:0001583	missense	11117			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.718A>T	2.37:g.27305157A>T	ENSP00000369677:p.Ile240Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.581500	0.65992	.	.	ENSG00000138080	ENST00000380320	T	0.18810	2.19	4.8	4.8	0.61643	.	0.121221	0.53938	D	0.000052	T	0.24160	0.0585	L	0.34521	1.04	0.45930	D	0.998768	D	0.69078	0.997	D	0.63597	0.916	T	0.17258	-1.0375	10	0.02654	T	1	-14.0018	8.6083	0.33786	0.8058:0.1942:0.0:0.0	.	240	Q9Y6C2	EMIL1_HUMAN	F	240	ENSP00000369677:I240F	ENSP00000369677:I240F	I	+	1	0	EMILIN1	27158661	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.200000	0.58433	2.028000	0.59812	0.379000	0.24179	ATC		0.657	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1		NM_007046	
GRM6	2916	hgsc.bcm.edu	37	5	178410194	178410195	+	Frame_Shift_Ins	INS	-	-	C	rs572341483		TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr5:178410194_178410195insC	ENST00000517717.1	-	10	2190_2191	c.2152_2153insG	c.(2152-2154)gccfs	p.A718fs	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Frame_Shift_Ins_p.A718fs			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	718					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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;0.245)		TGGGGGCCGGGCCCCCAGCCAT	0.614																																																	0																																										SO:0001589	frameshift_variant	2916			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2153dupG	5.37:g.178410199_178410199dupC	ENSP00000430767:p.Ala718fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Ins	INS	ENST00000517717.1	37	CCDS4442.1																																																																																				0.614	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			
FLT4	2324	broad.mit.edu;hgsc.bcm.edu	37	5	180047687	180047687	+	Silent	SNP	G	G	A	rs139263798	byFrequency	TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr5:180047687G>A	ENST00000261937.6	-	16	2406	c.2328C>T	c.(2326-2328)atC>atT	p.I776I	FLT4_ENST00000393347.3_Silent_p.I776I|FLT4_ENST00000424276.2_5'Flank|FLT4_ENST00000502649.1_Silent_p.I776I	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	776					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.I776I(2)|p.I586I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAAGGATCACGATCTCCATGC	0.602													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18793	0.0		0.0	False		,,,				2504	0.0				Colon(97;1075 1466 27033 27547 35871)												3	Substitution - coding silent(3)	kidney(3)											128.0	129.0	129.0					5																	180047687		2202	4300	6502	SO:0001819	synonymous_variant	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2328C>T	5.37:g.180047687G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	CCDS4457.1																																																																																				0.602	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			
UFL1	23376	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	96997453	96997453	+	Splice_Site	SNP	A	A	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr6:96997453A>G	ENST00000369278.4	+	14	1752	c.1686A>G	c.(1684-1686)gcA>gcG	p.A562A		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	562					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.A562A(1)									AGTTTTTTGCAGGTATACTTA	0.323																																																	1	Substitution - coding silent(1)	kidney(1)											54.0	56.0	55.0					6																	96997453		2203	4297	6500	SO:0001630	splice_region_variant	0			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1687+1A>G	6.37:g.96997453A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	ENST00000369278.4	37	CCDS5034.1																																																																																				0.323	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1		NM_015323	Silent
LAMB4	22798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	107763582	107763582	+	Missense_Mutation	SNP	G	G	A	rs555539125		TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr7:107763582G>A	ENST00000388781.3	-	2	111	c.28C>T	c.(28-30)Cac>Tac	p.H10Y	LAMB4_ENST00000388780.3_Missense_Mutation_p.H10Y|LAMB4_ENST00000414450.2_Missense_Mutation_p.H10Y|LAMB4_ENST00000205386.4_Missense_Mutation_p.H10Y|LAMB4_ENST00000418464.1_Missense_Mutation_p.H10Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	10					cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.H10Y(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCACCAAGGTGCAAAAAAAGG	0.308													G|||	1	0.000199681	0.0	0.0	5008	,	,		18291	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	kidney(1)											103.0	105.0	104.0					7																	107763582		2203	4300	6503	SO:0001583	missense	22798			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.28C>T	7.37:g.107763582G>A	ENSP00000373433:p.His10Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.344989	0.01266	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.30448	1.53;1.53;1.55;1.53;1.58	4.61	3.73	0.42828	.	0.321805	0.21372	N	0.075612	T	0.20251	0.0487	L	0.43152	1.355	0.23023	N	0.998415	B	0.21309	0.054	B	0.18263	0.021	T	0.31364	-0.9946	10	0.02654	T	1	.	8.8335	0.35098	0.1029:0.0:0.8971:0.0	.	10	A4D0S4	LAMB4_HUMAN	Y	10	ENSP00000205386:H10Y;ENSP00000373433:H10Y;ENSP00000373432:H10Y;ENSP00000402353:H10Y;ENSP00000402265:H10Y	ENSP00000205386:H10Y	H	-	1	0	LAMB4	107550818	0.790000	0.28787	0.975000	0.42487	0.499000	0.33736	0.628000	0.24522	1.290000	0.44636	0.563000	0.77884	CAC		0.308	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1		XM_209857	
LAMC1	3915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	183086460	183086460	+	Missense_Mutation	SNP	G	G	T	rs557108773	byFrequency	TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr1:183086460G>T	ENST00000258341.4	+	9	1827	c.1570G>T	c.(1570-1572)Gat>Tat	p.D524Y		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	524	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.D524Y(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TGCAGATGAGGATGGGTGGCG	0.473																																																	1	Substitution - Missense(1)	kidney(1)											128.0	111.0	116.0					1																	183086460		2203	4300	6503	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1570G>T	1.37:g.183086460G>T	ENSP00000258341:p.Asp524Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955428	0.73902	.	.	ENSG00000135862	ENST00000258341	T	0.32272	1.46	5.04	5.04	0.67666	Laminin B type IV (1);	0.100522	0.64402	D	0.000004	T	0.36496	0.0969	L	0.52905	1.665	0.80722	D	1	P	0.39624	0.681	B	0.40782	0.34	T	0.28170	-1.0052	10	0.59425	D	0.04	.	18.3933	0.90490	0.0:0.0:1.0:0.0	.	524	P11047	LAMC1_HUMAN	Y	524	ENSP00000258341:D524Y	ENSP00000258341:D524Y	D	+	1	0	LAMC1	181353083	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.013000	0.93629	2.338000	0.79540	0.591000	0.81541	GAT		0.473	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2		NM_002293	
LOXL4	84171	hgsc.bcm.edu;ucsc.edu	37	10	100018882	100018882	+	Missense_Mutation	SNP	G	G	C	rs151150208		TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr10:100018882G>C	ENST00000260702.3	-	6	955	c.805C>G	c.(805-807)Cgg>Ggg	p.R269G	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	269	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		AGCTTGCCCCGGGCTGGAGCC	0.637																																																	0													35.0	31.0	33.0					10																	100018882		2203	4300	6503	SO:0001583	missense	84171			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.805C>G	10.37:g.100018882G>C	ENSP00000260702:p.Arg269Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	ENST00000260702.3	37	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	G	7.584	0.669448	0.14776	.	.	ENSG00000138131	ENST00000260702	T	0.34859	1.34	4.9	0.325	0.15903	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.005890	0.07987	N	0.986430	T	0.30070	0.0753	L	0.35793	1.09	0.09310	N	1	B	0.28760	0.221	B	0.32928	0.155	T	0.35176	-0.9799	10	0.26408	T	0.33	.	10.7679	0.46305	0.0:0.1063:0.5228:0.3708	.	269	Q96JB6	LOXL4_HUMAN	G	269	ENSP00000260702:R269G	ENSP00000260702:R269G	R	-	1	2	LOXL4	100008872	0.003000	0.15002	0.020000	0.16555	0.516000	0.34256	1.199000	0.32235	0.421000	0.25980	0.313000	0.20887	CGG		0.637	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1		NM_032211	
M6PR	4074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	9098098	9098098	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr12:9098098C>A	ENST00000000412.3	-	3	727	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	87					endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)	p.G87W(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	AGGCCTGCCCCAGAAGTGTGG	0.507																																																	1	Substitution - Missense(1)	kidney(1)											199.0	160.0	173.0					12																	9098098		2203	4300	6503	SO:0001583	missense	4074				CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.259G>T	12.37:g.9098098C>A	ENSP00000000412:p.Gly87Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K528|D3DUV5	Missense_Mutation	SNP	ENST00000000412.3	37	CCDS8598.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964890	0.74131	.	.	ENSG00000003056	ENST00000000412;ENST00000543845;ENST00000543159	T;T;T	0.79454	-1.27;-1.27;-1.27	5.64	5.64	0.86602	Mannose-6-phosphate receptor, binding (1);	0.178952	0.48286	D	0.000197	T	0.81103	0.4753	L	0.43923	1.385	0.39852	D	0.973255	D	0.89917	1.0	D	0.69654	0.965	T	0.82625	-0.0365	10	0.87932	D	0	-22.8028	7.5698	0.27900	0.1656:0.7523:0.0:0.0821	.	87	P20645	MPRD_HUMAN	W	87	ENSP00000000412:G87W;ENSP00000440962:G87W;ENSP00000441030:G87W	ENSP00000000412:G87W	G	-	1	0	M6PR	8989365	0.095000	0.21747	1.000000	0.80357	0.975000	0.68041	1.456000	0.35201	2.651000	0.90000	0.650000	0.86243	GGG		0.507	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399130.1			
MAP3K15	389840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	19410163	19410163	+	Silent	SNP	C	C	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chrX:19410163C>T	ENST00000338883.4	-	18	2387	c.2388G>A	c.(2386-2388)tcG>tcA	p.S796S	MAP3K15_ENST00000359173.3_Silent_p.S231S|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.S628S	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	796	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.S843S(1)|p.S271S(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAAGACGTTTCGAGGTTCCAA	0.488																																																	2	Substitution - coding silent(2)	kidney(2)											80.0	76.0	77.0					X																	19410163		2203	4300	6503	SO:0001819	synonymous_variant	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2388G>A	X.37:g.19410163C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	37																																																																																					0.488	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001001671	
MIA3	375056	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	222826645	222826645	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr1:222826645A>T	ENST00000344922.5	+	15	4310	c.4285A>T	c.(4285-4287)Aat>Tat	p.N1429Y	MIA3_ENST00000344441.6_Missense_Mutation_p.N1429Y|MIA3_ENST00000340535.7_Missense_Mutation_p.N307Y|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1429					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.N1429Y(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TAAAGGTGGAAATGATTCAGA	0.413																																																	1	Substitution - Missense(1)	kidney(1)											135.0	127.0	130.0					1																	222826645		1876	4109	5985	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4285A>T	1.37:g.222826645A>T	ENSP00000340900:p.Asn1429Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.248|9.248	1.039993|1.039993	0.19669|0.19669	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000354906|ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	.|T;T;T	.|0.71817	.|-0.6;-0.6;1.19	5.66|5.66	1.88|1.88	0.25563|0.25563	.|.	.|.	.|.	.|.	.|.	T|T	0.60637|0.60637	0.2284|0.2284	L|L	0.59436|0.59436	1.845|1.845	0.21841|0.21841	N|N	0.999517|0.999517	.|B;B;B	.|0.27229	.|0.002;0.007;0.172	.|B;B;B	.|0.21360	.|0.014;0.005;0.034	T|T	0.53975|0.53975	-0.8362|-0.8362	5|9	.|0.56958	.|D	.|0.05	.|.	3.5122|3.5122	0.07712|0.07712	0.5333:0.2746:0.0723:0.1198|0.5333:0.2746:0.0723:0.1198	.|.	.|1370;307;1429	.|Q5JRA6-2;Q5JRA6-4;Q5JRA6	.|.;.;MIA3_HUMAN	I|Y	952|1429;1429;1370;307;307	.|ENSP00000340900:N1429Y;ENSP00000340587:N1429Y;ENSP00000345866:N307Y	.|ENSP00000284471:N307Y	K|N	+|+	2|1	0|0	MIA3|MIA3	220893268|220893268	0.691000|0.691000	0.27709|0.27709	0.204000|0.204000	0.23530|0.23530	0.390000|0.390000	0.30446|0.30446	1.261000|1.261000	0.32980|0.32980	0.055000|0.055000	0.16094|0.16094	0.455000|0.455000	0.32223|0.32223	AAA|AAT		0.413	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4		NM_198551	
NAV2	89797	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	20124911	20124911	+	Silent	SNP	G	G	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr11:20124911G>A	ENST00000396087.3	+	36	6804	c.6705G>A	c.(6703-6705)ctG>ctA	p.L2235L	NAV2_ENST00000349880.4_Silent_p.L2176L|NAV2_ENST00000311043.8_Silent_p.L1240L|NAV2_ENST00000533917.1_Silent_p.L1240L|NAV2_ENST00000527559.2_Silent_p.L2164L|NAV2_ENST00000540292.1_Silent_p.L2166L|NAV2_ENST00000360655.4_Silent_p.L2112L|NAV2_ENST00000396085.1_Silent_p.L2179L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2235					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.L2235L(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGAGCTCTCTGGGAGAGATCT	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											161.0	133.0	143.0					11																	20124911		2203	4300	6503	SO:0001819	synonymous_variant	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6705G>A	11.37:g.20124911G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																				0.542	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1		NM_145117	
MS4A14	84689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60164109	60164109	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr11:60164109G>C	ENST00000300187.6	+	1	335	c.58G>C	c.(58-60)Gaa>Caa	p.E20Q	MS4A14_ENST00000531783.1_Missense_Mutation_p.E20Q|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395005.2_Missense_Mutation_p.E20Q	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	20						integral component of membrane (GO:0016021)		p.E20Q(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AAAACCAAACGAAACTGTATT	0.458																																																	1	Substitution - Missense(1)	kidney(1)											130.0	102.0	112.0					11																	60164109		2203	4300	6503	SO:0001583	missense	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.58G>C	11.37:g.60164109G>C	ENSP00000300187:p.Glu20Gln	Somatic		WXS	Illumina HiSeq	Phase_I	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618173	0.46736	.	.	ENSG00000166928	ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783	T;T;T;T	0.35048	2.69;1.33;1.43;3.01	4.53	1.2	0.21068	.	1.294780	0.05037	N	0.475675	T	0.41719	0.1171	L	0.32530	0.975	0.09310	N	0.999998	D;D	0.56521	0.976;0.959	P;P	0.55749	0.783;0.611	T	0.34800	-0.9814	10	0.66056	D	0.02	-7.8385	7.224	0.26005	0.0:0.3602:0.4546:0.1851	.	20;20	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	Q	20	ENSP00000300187:E20Q;ENSP00000378453:E20Q;ENSP00000435764:E20Q;ENSP00000433761:E20Q	ENSP00000300187:E20Q	E	+	1	0	MS4A14	59920685	0.119000	0.22226	0.002000	0.10522	0.011000	0.07611	1.565000	0.36386	0.570000	0.29347	0.655000	0.94253	GAA		0.458	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			
NUP133	55746	broad.mit.edu;hgsc.bcm.edu	37	1	229602504	229602504	+	Splice_Site	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr1:229602504C>A	ENST00000261396.3	-	16	2168		c.e16-1		NUP133_ENST00000537506.1_Splice_Site	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.?(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTGGGATACCTGAGAGAATA	0.423																																																	1	Unknown(1)	kidney(1)											95.0	80.0	85.0					1																	229602504		2203	4300	6503	SO:0001630	splice_region_variant	55746				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2077-1G>T	1.37:g.229602504C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Splice_Site	SNP	ENST00000261396.3	37	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395076	0.83011	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2848	0.90111	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP133	227669127	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	4.839000	0.62810	2.819000	0.97034	0.585000	0.79938	.		0.423	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1		NM_018230	Intron
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52696277	52696278	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr3:52696277_52696278insT	ENST00000296302.7	-	4	400_401	c.399_400insA	c.(397-402)gaatatfs	p.Y134fs	PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.Y134fs|PBRM1_ENST00000356770.4_Frame_Shift_Ins_p.Y134fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.Y134fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.Y134fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.Y134fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.Y134fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.Y134fs			Q86U86	PB1_HUMAN	polybromo 1	134	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)			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)		GCGGCTTTATATTCAGGAGAAT	0.366			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_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.400dupA	3.37:g.52696279_52696279dupT	ENSP00000296302:p.Tyr134fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Ins	INS	ENST00000296302.7	37																																																																																					0.366	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCDHB14	56122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140604554	140604554	+	Missense_Mutation	SNP	C	C	T	rs150245283	byFrequency	TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr5:140604554C>T	ENST00000239449.4	+	1	1477	c.1477C>T	c.(1477-1479)Ccc>Tcc	p.P493S	PCDHB14_ENST00000515856.2_Missense_Mutation_p.P340S	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	493	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P493S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCTGCCGCCCCAGGACCG	0.657																																					Ovarian(141;50 1831 27899 33809 37648)												1	Substitution - Missense(1)	kidney(1)						C	SER/PRO	1,4405		0,1,2202	92.0	101.0	98.0		1477	-3.8	0.0	5	dbSNP_134	98	12,8588		0,12,4288	no	missense	PCDHB14	NM_018934.2	74	0,13,6490	TT,TC,CC		0.1395,0.0227,0.1	benign	493/799	140604554	13,12993	2203	4300	6503	SO:0001583	missense	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1477C>T	5.37:g.140604554C>T	ENSP00000239449:p.Pro493Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	CCDS4256.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	-	0.128	-1.116897	0.01799	2.27E-4	0.001395	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.50548	0.74;0.74	4.15	-3.84	0.04256	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.22437	0.0541	N	0.04018	-0.295	0.09310	N	1	B	0.16166	0.016	B	0.20955	0.032	T	0.21827	-1.0234	9	0.44086	T	0.13	.	8.3681	0.32399	0.0:0.3762:0.425:0.1989	.	493	Q9Y5E9	PCDBE_HUMAN	S	340;493	ENSP00000444518:P340S;ENSP00000239449:P493S	ENSP00000239449:P493S	P	+	1	0	PCDHB14	140584738	0.025000	0.19082	0.009000	0.14445	0.015000	0.08874	-0.614000	0.05604	-0.646000	0.05452	-1.234000	0.01563	CCC		0.657	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2		NM_018934	
PDZD8	118987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	119049791	119049791	+	Silent	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr10:119049791C>A	ENST00000334464.5	-	4	1406	c.1167G>T	c.(1165-1167)ggG>ggT	p.G389G	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	389	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.G389G(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GCCCAGCATACCCATCAGTTG	0.418																																																	1	Substitution - coding silent(1)	kidney(1)											115.0	101.0	105.0					10																	119049791		2203	4300	6503	SO:0001819	synonymous_variant	118987			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1167G>T	10.37:g.119049791C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q86WE0|Q86WE5|Q9UFF1	Silent	SNP	ENST00000334464.5	37	CCDS7600.1																																																																																				0.418	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1		NM_173791	
PFKFB1	5207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	54982603	54982603	+	Silent	SNP	C	C	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chrX:54982603C>T	ENST00000375006.3	-	7	691	c.621G>A	c.(619-621)ttG>ttA	p.L207L	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.L142L	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	207	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)	p.L207L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						gttcctcATCCAAGGGTTGGT	0.448																																																	1	Substitution - coding silent(1)	kidney(1)											111.0	91.0	98.0					X																	54982603		2203	4300	6503	SO:0001819	synonymous_variant	5207				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.621G>A	X.37:g.54982603C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RA88|B4DUN5|Q5JXS5|Q99951	Silent	SNP	ENST00000375006.3	37	CCDS14364.1																																																																																				0.448	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			
PFKM	5213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	48516579	48516579	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr12:48516579G>C	ENST00000312352.7	+	2	61	c.22G>C	c.(22-24)Gca>Cca	p.A8P	PFKM_ENST00000359794.5_Missense_Mutation_p.A8P|PFKM_ENST00000551548.1_3'UTR|PFKM_ENST00000551804.1_Missense_Mutation_p.A8P|PFKM_ENST00000340802.6_Missense_Mutation_p.A79P|PFKM_ENST00000395233.2_Missense_Mutation_p.A8P|PFKM_ENST00000547587.1_Missense_Mutation_p.A8P	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	8	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.A8P(1)|p.A79P(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AGAGCACCATGCAGCCAAAAC	0.488																																																	2	Substitution - Missense(2)	kidney(2)											105.0	109.0	108.0					12																	48516579		2203	4300	6503	SO:0001583	missense	5213			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.22G>C	12.37:g.48516579G>C	ENSP00000309438:p.Ala8Pro	Somatic		WXS	Illumina HiSeq	Phase_I	J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989622	0.53934	.	.	ENSG00000152556	ENST00000550345;ENST00000549003;ENST00000550924;ENST00000549941;ENST00000550257;ENST00000340802;ENST00000546755;ENST00000549366;ENST00000552792;ENST00000548288;ENST00000359794;ENST00000551339;ENST00000395233;ENST00000548345;ENST00000551804;ENST00000549022;ENST00000547587;ENST00000312352;ENST00000546465	T;T;T;T;D;T;D;D;D;T;T;T;T;T;T;T;T;T	0.87256	-0.53;-1.11;-1.11;-1.13;-2.23;-1.45;-2.12;-2.18;-2.19;-1.44;-1.11;-1.44;-1.11;-1.44;-0.53;-1.44;-1.44;-1.42	5.3	5.3	0.74995	.	0.112507	0.64402	D	0.000017	T	0.72692	0.3492	N	0.03608	-0.345	0.37767	D	0.926549	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.09377	0.001;0.001;0.004	T	0.69273	-0.5188	10	0.29301	T	0.29	-6.7101	14.6753	0.68975	0.0:0.0:1.0:0.0	.	8;8;79	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	P	8;8;8;41;82;79;111;111;79;79;8;8;8;8;8;8;8;8;8	ENSP00000450369:A8P;ENSP00000449835:A8P;ENSP00000446945:A8P;ENSP00000446829:A41P;ENSP00000447997:A82P;ENSP00000345771:A79P;ENSP00000449622:A111P;ENSP00000448940:A79P;ENSP00000448018:A79P;ENSP00000352842:A8P;ENSP00000448253:A8P;ENSP00000378656:A8P;ENSP00000449269:A8P;ENSP00000448177:A8P;ENSP00000446805:A8P;ENSP00000449426:A8P;ENSP00000309438:A8P;ENSP00000446519:A8P	ENSP00000309438:A8P	A	+	1	0	PFKM	46802846	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.878000	0.48515	2.932000	0.99384	0.643000	0.83706	GCA		0.488	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1		NM_000289	
PIGP	51227	broad.mit.edu;ucsc.edu	37	21	38444809	38444809	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr21:38444809C>A	ENST00000464265.1	-	1	302	c.79G>T	c.(79-81)Gaa>Taa	p.E27*	PIGP_ENST00000399102.1_Nonsense_Mutation_p.E3*|PIGP_ENST00000360525.4_Nonsense_Mutation_p.E3*|PIGP_ENST00000329667.3_5'UTR|TTC3_ENST00000540756.1_5'Flank|PIGP_ENST00000399103.1_Nonsense_Mutation_p.E3*|PIGP_ENST00000399098.1_5'UTR|TTC3_ENST00000355666.1_5'Flank|TTC3_ENST00000399010.1_5'Flank	NM_153681.2	NP_710148.1	P57054	PIGP_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class P	27					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)	p.E27*(1)		kidney(1)|urinary_tract(1)	2		Myeloproliferative disorder(46;0.0412)				GGTGAATTTTCCACCATTTTT	0.483																																																	1	Substitution - Nonsense(1)	kidney(1)											182.0	188.0	186.0					21																	38444809		2203	4300	6503	SO:0001587	stop_gained	51227			AB037162	CCDS13649.1, CCDS13650.1	21q22.2	2013-02-26	2006-06-28	2005-11-10	ENSG00000185808	ENSG00000185808	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	3046	protein-coding gene	gene with protein product	"""phosphatidylinositol-n-acetylglucosaminyltranferase subunit"""	605938	"""Down syndrome critical region gene 5"", ""phosphatidylinositol glycan, class P"""	DSCR5		10814524, 15221505	Standard	NR_028352		Approved	DCRC, DSRC	uc002yvw.1	P57054	OTTHUMG00000086653	ENST00000464265.1:c.79G>T	21.37:g.38444809C>A	ENSP00000420037:p.Glu27*	Somatic		WXS	Illumina GAIIx	Phase_I	B2RB18|B2RE99|B5BU92|D3DSG7|J3KR75|Q53Y28|Q96KI1|Q9NZA6	Nonsense_Mutation	SNP	ENST00000464265.1	37	CCDS13649.1	.	.	.	.	.	.	.	.	.	.	C	38	7.061213	0.98036	.	.	ENSG00000185808	ENST00000464265;ENST00000360525;ENST00000399102;ENST00000399103	.	.	.	5.4	4.52	0.55395	.	0.049740	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-18.5152	13.0835	0.59127	0.0:0.9211:0.0:0.0788	.	.	.	.	X	27;3;3;3	.	ENSP00000353719:E3X	E	-	1	0	PIGP	37366679	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.449000	0.73473	1.274000	0.44362	-0.140000	0.14226	GAA		0.483	PIGP-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194769.2		NM_153681	
PLA2R1	22925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160813103	160813103	+	Silent	SNP	A	A	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr2:160813103A>G	ENST00000283243.7	-	21	3146	c.2940T>C	c.(2938-2940)agT>agC	p.S980S	PLA2R1_ENST00000392771.1_Silent_p.S980S	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	980	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.S980S(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AGTTCTTCCAACTGCTTGGGT	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											139.0	123.0	128.0					2																	160813103		2203	4300	6503	SO:0001819	synonymous_variant	22925			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2940T>C	2.37:g.160813103A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	CCDS33309.1																																																																																				0.428	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			
POLR2A	5430	hgsc.bcm.edu;ucsc.edu	37	17	7404417	7404417	+	Frame_Shift_Del	DEL	C	C	-	rs184151556		TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr17:7404417delC	ENST00000322644.6	+	12	2439	c.2040delC	c.(2038-2040)ctcfs	p.L681fs		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	681					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACAACTGGCTCCTCATCGAGG	0.502																																																	0													145.0	125.0	132.0					17																	7404417		2203	4300	6503	SO:0001589	frameshift_variant	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2040delC	17.37:g.7404417delC	ENSP00000314949:p.Leu681fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NN93|B9EH88|Q6NX41	Frame_Shift_Del	DEL	ENST00000322644.6	37	CCDS32548.1																																																																																				0.502	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1		NM_000937	
PPHLN1	51535	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	42748967	42748967	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr12:42748967A>T	ENST00000395568.2	+	4	326	c.242A>T	c.(241-243)gAa>gTa	p.E81V	PPHLN1_ENST00000337898.6_Missense_Mutation_p.E26V|PPHLN1_ENST00000549190.1_Missense_Mutation_p.E99V|PPHLN1_ENST00000358314.7_Missense_Mutation_p.E81V|PPHLN1_ENST00000552761.1_Missense_Mutation_p.E33V|PPHLN1_ENST00000317560.9_Missense_Mutation_p.E33V|PPHLN1_ENST00000449194.2_Missense_Mutation_p.E81V|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.E88V|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000432191.2_Missense_Mutation_p.E26V	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	81					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E81V(2)|p.E88V(1)		breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TTACAGGATGAATCTGGTTAT	0.348																																																	3	Substitution - Missense(3)	kidney(3)											96.0	97.0	97.0					12																	42748967		2203	4300	6503	SO:0001583	missense	51535			AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.242A>T	12.37:g.42748967A>T	ENSP00000378935:p.Glu81Val	Somatic		WXS	Illumina HiSeq	Phase_I	E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.091065	0.76756	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000337898;ENST00000358314;ENST00000395568;ENST00000449194;ENST00000552761;ENST00000317560;ENST00000432191;ENST00000546750;ENST00000547847	.	.	.	6.17	5.04	0.67666	.	0.293120	0.33023	N	0.005366	T	0.67832	0.2935	M	0.66939	2.045	0.38192	D	0.939932	P;P;P;P;D;P;B;B;B;B;P;B	0.54601	0.716;0.893;0.594;0.594;0.967;0.893;0.236;0.231;0.426;0.433;0.95;0.433	B;P;B;B;P;B;B;B;B;B;P;B	0.57244	0.386;0.51;0.295;0.295;0.816;0.423;0.147;0.283;0.234;0.283;0.687;0.394	T	0.73154	-0.4072	9	0.72032	D	0.01	-7.0197	10.2577	0.43408	0.9263:0.0:0.0737:0.0	.	33;26;26;33;26;81;81;81;33;88;33;99	F8WF16;B7Z695;B7Z8L1;B7Z615;Q8NEY8-3;Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-6;Q8NEY8-2;Q8NEY8-5;F8W0Q9	.;.;.;.;.;PPHLN_HUMAN;.;.;.;.;.;.	V	99;88;26;81;81;81;33;33;26;88;81	.	ENSP00000322048:E33V	E	+	2	0	PPHLN1	41035234	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.505000	0.66981	1.163000	0.42636	0.533000	0.62120	GAA		0.348	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1		NM_201515	
RP1	6101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	55539331	55539331	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr8:55539331A>T	ENST00000220676.1	+	4	3037	c.2889A>T	c.(2887-2889)aaA>aaT	p.K963N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	963					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.K963N(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTCTGGAAAAATAAGTAATT	0.328																																					Colon(91;1014 1389 7634 14542 40420)												1	Substitution - Missense(1)	kidney(1)											52.0	57.0	55.0					8																	55539331		2195	4294	6489	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2889A>T	8.37:g.55539331A>T	ENSP00000220676:p.Lys963Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.333192	0.24167	.	.	ENSG00000104237	ENST00000220676	T	0.55413	0.52	5.89	1.76	0.24704	.	0.299368	0.29165	N	0.012955	T	0.35364	0.0929	L	0.47716	1.5	0.09310	N	0.999999	P	0.37122	0.583	B	0.29942	0.109	T	0.20638	-1.0269	10	0.42905	T	0.14	.	4.7874	0.13232	0.6711:0.0:0.1915:0.1374	.	963	P56715	RP1_HUMAN	N	963	ENSP00000220676:K963N	ENSP00000220676:K963N	K	+	3	2	RP1	55701884	0.963000	0.33076	0.129000	0.21949	0.036000	0.12997	0.839000	0.27586	1.062000	0.40625	0.533000	0.62120	AAA		0.328	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2		NM_006269	
SNX29	92017	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	12136850	12136850	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr16:12136850G>T	ENST00000566228.1	+	5	413	c.344G>T	c.(343-345)gGt>gTt	p.G115V	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	115	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.G115V(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GTGGGCCGGGGTCGCGCCTGG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											41.0	33.0	36.0					16																	12136850		2197	4300	6497	SO:0001583	missense	0			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.344G>T	16.37:g.12136850G>T	ENSP00000456480:p.Gly115Val	Somatic		WXS	Illumina HiSeq	Phase_I	B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	27.7	4.850884	0.91277	.	.	ENSG00000140660	ENST00000268271	.	.	.	4.64	4.64	0.57946	.	0.068825	0.56097	D	0.000030	T	0.75627	0.3875	M	0.74467	2.265	0.80722	D	1	.	.	.	.	.	.	T	0.78914	-0.2016	7	0.62326	D	0.03	-16.4279	16.2512	0.82489	0.0:0.0:1.0:0.0	.	.	.	.	V	115	.	ENSP00000268271:G115V	G	+	2	0	RUNDC2A	12044351	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	9.354000	0.97083	2.404000	0.81709	0.462000	0.41574	GGT		0.652	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			
SERPINF2	5345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	1648687	1648687	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr17:1648687C>T	ENST00000324015.3	+	4	240	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	SERPINF2_ENST00000450523.2_Nonsense_Mutation_p.Q55*|SERPINF2_ENST00000382061.4_Nonsense_Mutation_p.Q55*	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	55					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q55*(1)		breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	GTTGGGCAACCAGGTACAACC	0.667																																																	1	Substitution - Nonsense(1)	kidney(1)											37.0	35.0	36.0					17																	1648687		2203	4300	6503	SO:0001587	stop_gained	5345			D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"""Serine (or cysteine) peptidase inhibitors"""	9075	protein-coding gene	gene with protein product	"""alpha-2-plasmin inhibitor"", ""alpha-2-antiplasmin"""	613168	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"""	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.163C>T	17.37:g.1648687C>T	ENSP00000321853:p.Gln55*	Somatic		WXS	Illumina HiSeq	Phase_I	B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Nonsense_Mutation	SNP	ENST00000324015.3	37	CCDS11011.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711492	0.89112	.	.	ENSG00000167711	ENST00000453066;ENST00000324015;ENST00000450523;ENST00000423861;ENST00000453723;ENST00000382061	.	.	.	4.55	3.57	0.40892	.	0.773939	0.12401	N	0.472084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1767	0.42943	0.1984:0.8016:0.0:0.0	.	.	.	.	X	55	.	ENSP00000321853:Q55X	Q	+	1	0	SERPINF2	1595437	0.998000	0.40836	1.000000	0.80357	0.955000	0.61496	1.037000	0.30241	1.260000	0.44134	0.561000	0.74099	CAG		0.667	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3		NM_000934	
SFRP4	6424	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	37949276	37949276	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr7:37949276C>A	ENST00000436072.2	-	5	1175	c.798G>T	c.(796-798)atG>atT	p.M266I	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	266	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.M266I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTTCAAGAAGCATCATCCTGA	0.274																																																	1	Substitution - Missense(1)	kidney(1)											123.0	117.0	119.0					7																	37949276		2201	4299	6500	SO:0001583	missense	6424			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.798G>T	7.37:g.37949276C>A	ENSP00000410715:p.Met266Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489972	0.84962	.	.	ENSG00000106483	ENST00000436072;ENST00000446575;ENST00000447200	T;T	0.19394	2.15;2.15	6.03	6.03	0.97812	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.045952	0.85682	D	0.000000	T	0.34658	0.0905	L	0.47716	1.5	0.49687	D	0.999813	B	0.34241	0.444	P	0.46144	0.505	T	0.02371	-1.1169	10	0.62326	D	0.03	.	19.3311	0.94288	0.0:1.0:0.0:0.0	.	266	Q6FHJ7	SFRP4_HUMAN	I	266;263;132	ENSP00000410715:M266I;ENSP00000402262:M132I	ENSP00000410715:M266I	M	-	3	0	SFRP4	37915801	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.764000	0.68826	2.868000	0.98415	0.555000	0.69702	ATG		0.274	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2		NM_003014	
SLC18A1	6570	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	20038369	20038369	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr8:20038369A>T	ENST00000276373.5	-	2	373	c.107T>A	c.(106-108)aTg>aAg	p.M36K	SLC18A1_ENST00000440926.1_Missense_Mutation_p.M36K|SLC18A1_ENST00000381608.4_Missense_Mutation_p.M36K|SLC18A1_ENST00000437980.1_Missense_Mutation_p.M36K|SLC18A1_ENST00000265808.7_Missense_Mutation_p.M36K|SLC18A1_ENST00000519026.1_Missense_Mutation_p.M36K	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	36					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.M36K(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	AGTAAACAGCATGTTGTCCAG	0.572																																																	1	Substitution - Missense(1)	kidney(1)											184.0	146.0	159.0					8																	20038369		2203	4300	6503	SO:0001583	missense	6570				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.107T>A	8.37:g.20038369A>T	ENSP00000276373:p.Met36Lys	Somatic		WXS	Illumina HiSeq	Phase_I	E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921384	0.73213	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608;ENST00000522513	T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.71	4.56	0.56223	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.155728	0.64402	D	0.000001	D	0.89455	0.6720	M	0.90977	3.165	0.80722	D	1	P;P;P	0.50528	0.936;0.768;0.77	P;B;B	0.59889	0.865;0.401;0.193	D	0.89989	0.4106	10	0.87932	D	0	-23.1334	9.8615	0.41118	0.9195:0.0:0.0805:0.0	.	36;36;36	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	K	36	ENSP00000265808:M36K;ENSP00000276373:M36K;ENSP00000387549:M36K;ENSP00000413361:M36K;ENSP00000429664:M36K;ENSP00000371021:M36K;ENSP00000428999:M36K	ENSP00000265808:M36K	M	-	2	0	SLC18A1	20082649	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.179000	0.71974	1.004000	0.39156	0.533000	0.62120	ATG		0.572	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			
SLC22A10	387775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63057715	63057715	+	Silent	SNP	C	C	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr11:63057715C>G	ENST00000332793.6	+	1	80	c.78C>G	c.(76-78)ccC>ccG	p.P26P	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_5'Flank|SLC22A10_ENST00000544661.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	26						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.P26P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	TTATTCTTCCCTCTCTCATGT	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											85.0	84.0	85.0					11																	63057715		2021	4221	6242	SO:0001819	synonymous_variant	387775			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.78C>G	11.37:g.63057715C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q68CJ0	Silent	SNP	ENST00000332793.6	37	CCDS41661.1																																																																																				0.458	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3		NM_001039752	
SLC2A14	144195	broad.mit.edu;hgsc.bcm.edu	37	12	7967026	7967026	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr12:7967026C>A	ENST00000543909.1	-	16	2208	c.1449G>T	c.(1447-1449)gaG>gaT	p.E483D	SLC2A14_ENST00000396589.2_Missense_Mutation_p.E483D|SLC2A14_ENST00000539924.1_Missense_Mutation_p.E498D|SLC2A14_ENST00000431042.2_Missense_Mutation_p.E460D|SLC2A14_ENST00000542546.1_Missense_Mutation_p.E374D|SLC2A14_ENST00000542505.1_Missense_Mutation_p.E124D|SLC2A14_ENST00000340749.5_Missense_Mutation_p.E460D|SLC2A14_ENST00000535295.1_Missense_Mutation_p.E374D			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	483					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.E483D(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GTGTGATATCCTCAAAAGTCC	0.512																																																	1	Substitution - Missense(1)	kidney(1)											96.0	77.0	84.0					12																	7967026		2203	4298	6501	SO:0001583	missense	144195			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1449G>T	12.37:g.7967026C>A	ENSP00000440480:p.Glu483Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	8.862	0.947159	0.18356	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	3.81	-0.388	0.12459	Major facilitator superfamily domain, general substrate transporter (1);	0.275503	0.39274	N	0.001420	T	0.60830	0.2299	L	0.32530	0.975	0.42787	D	0.993886	B;B;B;B	0.20780	0.048;0.017;0.014;0.011	B;B;B;B	0.31016	0.123;0.074;0.016;0.023	T	0.31641	-0.9936	10	0.14656	T	0.56	.	4.6527	0.12603	0.0:0.5282:0.1645:0.3073	.	498;374;460;483	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	D	460;483;460;124;483;374;374;498	ENSP00000340450:E460D;ENSP00000440480:E483D;ENSP00000407287:E460D;ENSP00000438484:E124D;ENSP00000379834:E483D;ENSP00000440492:E374D;ENSP00000443903:E374D;ENSP00000445929:E498D	ENSP00000340450:E460D	E	-	3	2	SLC2A14	7858293	0.998000	0.40836	0.694000	0.30210	0.968000	0.65278	0.327000	0.19663	-0.065000	0.13021	0.460000	0.39030	GAG		0.512	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2		NM_153449	
MIEF1	54471	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	39908345	39908345	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr22:39908345G>A	ENST00000325301.2	+	5	855	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	MIEF1_ENST00000404569.1_Missense_Mutation_p.R144Q|MIEF1_ENST00000402881.1_Missense_Mutation_p.R144Q	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	144	Dimerization.				mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)	p.R144Q(1)									ACTTACTACCGGAACCGGGCA	0.622																																																	1	Substitution - Missense(1)	kidney(1)											45.0	46.0	46.0					22																	39908345		2203	4300	6503	SO:0001583	missense	54471			AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.431G>A	22.37:g.39908345G>A	ENSP00000327124:p.Arg144Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q7L890|Q9BUI3	Missense_Mutation	SNP	ENST00000325301.2	37	CCDS13995.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369917	0.61624	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.11712	2.75;2.77;2.77	5.78	4.77	0.60923	.	0.175935	0.50627	D	0.000108	T	0.10078	0.0247	L	0.36672	1.1	0.45415	D	0.998399	B;B	0.18863	0.024;0.031	B;B	0.08055	0.002;0.003	T	0.11567	-1.0582	10	0.22706	T	0.39	-21.7363	14.9412	0.70994	0.0687:0.0:0.9313:0.0	.	144;144	Q9NQG6;B0QY95	MID51_HUMAN;.	Q	144	ENSP00000385110:R144Q;ENSP00000327124:R144Q;ENSP00000385191:R144Q	ENSP00000327124:R144Q	R	+	2	0	SMCR7L	38238291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.346000	0.79347	1.450000	0.47717	0.585000	0.79938	CGG		0.622	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1		NM_019008	
SMG6	23293	broad.mit.edu;hgsc.bcm.edu	37	17	1964808	1964808	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr17:1964808A>G	ENST00000263073.6	-	19	4288	c.4238T>C	c.(4237-4239)cTc>cCc	p.L1413P	SMG6_ENST00000544865.1_Missense_Mutation_p.L1382P|SMG6_ENST00000354901.4_Missense_Mutation_p.L505P|SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000536871.2_Missense_Mutation_p.L505P	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1413					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.L1413P(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGCCCACGTGAGGAAGGCTGG	0.647																																					Melanoma(59;28 1088 11621 25887 46638 50814)												1	Substitution - Missense(1)	kidney(1)											52.0	31.0	38.0					17																	1964808		2196	4290	6486	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.4238T>C	17.37:g.1964808A>G	ENSP00000263073:p.Leu1413Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.696122	0.88830	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000354901;ENST00000536871	T;T;T	0.21734	2.75;2.75;1.99	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000009	T	0.41926	0.1180	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.28073	-1.0055	10	0.87932	D	0	-4.7929	15.3497	0.74373	1.0:0.0:0.0:0.0	.	1413	Q86US8	EST1A_HUMAN	P	1413;1382;324;505	ENSP00000263073:L1413P;ENSP00000443920:L1382P;ENSP00000440283:L505P	ENSP00000263073:L1413P	L	-	2	0	SMG6	1911558	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.228000	0.95250	2.107000	0.64212	0.533000	0.62120	CTC		0.647	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			
SNRNP200	23020	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	96962717	96962717	+	Missense_Mutation	SNP	C	C	T	rs144219123		TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr2:96962717C>T	ENST00000323853.5	-	12	1546	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H	SNRNP200_ENST00000349783.5_Missense_Mutation_p.R490H	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	490	Helicase ATP-binding 1. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.R490H(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AAGGGCAGCACGGTAGAGCTT	0.507																																																	1	Substitution - Missense(1)	kidney(1)						C	HIS/ARG	0,4406		0,0,2203	75.0	69.0	71.0		1469	3.8	1.0	2	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNRNP200	NM_014014.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	490/2137	96962717	1,13005	2203	4300	6503	SO:0001583	missense	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1469G>A	2.37:g.96962717C>T	ENSP00000317123:p.Arg490His	Somatic		WXS	Illumina HiSeq	Phase_I	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911163	0.52439	0.0	1.16E-4	ENSG00000144028	ENST00000323853;ENST00000349783;ENST00000540328	T;T	0.15256	2.44;2.44	5.63	3.82	0.43975	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.261052	0.38720	N	0.001591	T	0.07999	0.0200	N	0.04275	-0.24	0.35194	D	0.77365	B	0.09022	0.002	B	0.01281	0.0	T	0.08764	-1.0706	10	0.59425	D	0.04	-4.8574	8.978	0.35948	0.0:0.7663:0.0:0.2337	.	490	O75643	U520_HUMAN	H	490;490;165	ENSP00000317123:R490H;ENSP00000326937:R490H	ENSP00000317123:R490H	R	-	2	0	SNRNP200	96326444	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.561000	0.53770	1.378000	0.46305	0.655000	0.94253	CGT		0.507	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2		NM_014014	
SNX27	81609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151611585	151611585	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr1:151611585A>G	ENST00000458013.2	+	2	653	c.533A>G	c.(532-534)gAg>gGg	p.E178G	SNX27_ENST00000368838.1_Missense_Mutation_p.E85G|SNX27_ENST00000368843.3_Missense_Mutation_p.E178G			Q96L92	SNX27_HUMAN	sorting nexin family member 27	178	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.E178G(1)		central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGAATGGTGAGAAGTTTGTG	0.428																																					Colon(46;291 966 40145 41237 41888)												1	Substitution - Missense(1)	kidney(1)											68.0	64.0	65.0					1																	151611585		2203	4300	6503	SO:0001583	missense	81609			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.533A>G	1.37:g.151611585A>G	ENSP00000400333:p.Glu178Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37		.	.	.	.	.	.	.	.	.	.	A	20.6	4.022253	0.75275	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.28895	1.59;1.59;1.59	4.66	4.66	0.58398	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.25568	0.0622	N	0.20328	0.56	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.72338	0.948;0.977	T	0.05566	-1.0877	10	0.28530	T	0.3	.	13.0435	0.58913	1.0:0.0:0.0:0.0	.	178;178	Q96L92;Q96L92-3	SNX27_HUMAN;.	G	178;178;85	ENSP00000400333:E178G;ENSP00000357836:E178G;ENSP00000357831:E85G	ENSP00000357831:E85G	E	+	2	0	SNX27	149878209	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.735000	0.91549	1.954000	0.56735	0.482000	0.46254	GAG		0.428	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3		NM_030918	
STXBP5	134957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	147685200	147685200	+	Silent	SNP	C	C	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr6:147685200C>T	ENST00000321680.6	+	25	2979	c.2979C>T	c.(2977-2979)gcC>gcT	p.A993A	STXBP5_ENST00000367481.3_Silent_p.A957A|STXBP5_ENST00000179882.6_Silent_p.A648A|STXBP5_ENST00000367480.3_Silent_p.A940A	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	993					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.A993A(1)|p.A957A(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGCGGATAGCCAGAACGTTCT	0.363																																																	2	Substitution - coding silent(2)	kidney(2)											182.0	174.0	177.0					6																	147685200		2203	4300	6503	SO:0001819	synonymous_variant	134957			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2979C>T	6.37:g.147685200C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	CCDS47499.1																																																																																				0.363	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			
SUV39H1	6839	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	48557408	48557408	+	Silent	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chrX:48557408C>A	ENST00000376687.3	+	2	325	c.135C>A	c.(133-135)gtC>gtA	p.V45V	SUV39H1_ENST00000337852.6_Silent_p.V56V|SUV39H1_ENST00000453214.2_5'UTR|AF196970.3_ENST00000416061.1_RNA	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	45	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Interaction with SIRT1.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.V45V(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ACTTTGAAGTCGAGTACCTGT	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											86.0	68.0	74.0					X																	48557408		2203	4300	6503	SO:0001819	synonymous_variant	6839			AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.135C>A	X.37:g.48557408C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2R6E8|B4DST0|Q53G60|Q6FHK6	Silent	SNP	ENST00000376687.3	37	CCDS14304.1																																																																																				0.557	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1		NM_003173	
TEX11	56159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	69942475	69942475	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chrX:69942475G>A	ENST00000395889.2	-	14	1197	c.1042C>T	c.(1042-1044)Cat>Tat	p.H348Y	TEX11_ENST00000374320.2_Missense_Mutation_p.H23Y|TEX11_ENST00000344304.3_Missense_Mutation_p.H348Y|TEX11_ENST00000374333.2_Missense_Mutation_p.H333Y	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	348					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.H333Y(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TACCTTTCATGATCCATCAGC	0.403																																																	1	Substitution - Missense(1)	kidney(1)											128.0	99.0	109.0					X																	69942475		2203	4300	6503	SO:0001583	missense	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1042C>T	X.37:g.69942475G>A	ENSP00000379226:p.His348Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	g	7.763	0.705846	0.15172	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.46063	1.37;1.38;0.88;1.38	3.98	-2.58	0.06228	.	0.477654	0.22238	N	0.062725	T	0.25606	0.0623	L	0.44542	1.39	0.09310	N	1	B;B	0.24651	0.089;0.108	B;B	0.26517	0.023;0.07	T	0.12268	-1.0554	9	.	.	.	-0.0263	3.3011	0.06983	0.4509:0.0:0.2157:0.3335	.	333;348	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	Y	333;348;23;348	ENSP00000363453:H333Y;ENSP00000379226:H348Y;ENSP00000363440:H23Y;ENSP00000340995:H348Y	.	H	-	1	0	TEX11	69859200	0.998000	0.40836	0.277000	0.24703	0.800000	0.45204	0.248000	0.18198	-0.636000	0.05524	0.509000	0.49947	CAT		0.403	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			
UGT2B4	7363	hgsc.bcm.edu	37	4	70359429	70359430	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr4:70359429_70359430insG	ENST00000305107.6	-	2	897_898	c.851_852insC	c.(850-852)cctfs	p.P284fs	UGT2B4_ENST00000381096.3_Frame_Shift_Ins_p.P148fs|UGT2B4_ENST00000512583.1_Frame_Shift_Ins_p.P284fs|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	284					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	GGGGTTTGGCAGGTTTGCAGTG	0.401																																																	0																																										SO:0001589	frameshift_variant	7363			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.852dupC	4.37:g.70359431_70359431dupG	ENSP00000305221:p.Pro284fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Frame_Shift_Ins	INS	ENST00000305107.6	37	CCDS43234.1																																																																																				0.401	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1		NM_021139	
USHBP1	83878	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17366335	17366335	+	Silent	SNP	G	G	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr19:17366335G>A	ENST00000252597.3	-	10	1724	c.1551C>T	c.(1549-1551)ctC>ctT	p.L517L	USHBP1_ENST00000431146.2_Silent_p.L453L|AC010646.3_ENST00000594059.1_5'Flank	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.L517L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCAGGGCTCGGAGGGCAGCCT	0.687																																																	1	Substitution - coding silent(1)	kidney(1)											25.0	27.0	26.0					19																	17366335		2202	4299	6501	SO:0001819	synonymous_variant	83878			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1551C>T	19.37:g.17366335G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000252597.3	37	CCDS12353.1																																																																																				0.687	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1		NM_031941	
WDR35	57539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	20138069	20138069	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr2:20138069C>T	ENST00000345530.3	-	19	2168	c.2053G>A	c.(2053-2055)Gat>Aat	p.D685N	WDR35_ENST00000281405.4_Missense_Mutation_p.D674N|WDR35_ENST00000416055.2_Missense_Mutation_p.D250N	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	685					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.D685N(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGATGCATCTTTAATTCCA	0.413																																																	1	Substitution - Missense(1)	kidney(1)											131.0	131.0	131.0					2																	20138069		2203	4300	6503	SO:0001583	missense	57539			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2053G>A	2.37:g.20138069C>T	ENSP00000314444:p.Asp685Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957559	0.73902	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	T;T;T;D	0.87491	-0.24;-0.23;-0.85;-2.26	5.57	4.68	0.58851	.	0.046875	0.85682	D	0.000000	D	0.91566	0.7336	M	0.68952	2.095	0.80722	D	1	D;D;B;P	0.61697	0.968;0.99;0.12;0.548	P;P;B;B	0.62014	0.836;0.897;0.153;0.379	D	0.91645	0.5330	10	0.49607	T	0.09	-19.0958	15.5905	0.76523	0.0:0.862:0.138:0.0	.	685;674;685;250	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	N	685;674;250;220	ENSP00000314444:D685N;ENSP00000281405:D674N;ENSP00000399159:D250N;ENSP00000404409:D220N	ENSP00000281405:D674N	D	-	1	0	WDR35	20001550	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.794000	0.85869	1.356000	0.45884	0.591000	0.81541	GAT		0.413	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2		NM_020779	
VRK2	7444	broad.mit.edu;hgsc.bcm.edu	37	2	58313465	58313465	+	Intron	SNP	T	T	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr2:58313465T>A	ENST00000435505.2	+	8	1001				VRK2_ENST00000417641.2_Intron|VRK2_ENST00000440705.2_Intron|VRK2_ENST00000340157.4_Intron|VRK2_ENST00000412104.2_Intron			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2						cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						AATAAATTTGTCTTTGTAGTC	0.299																																																	1	Unknown(1)	kidney(1)											76.0	87.0	84.0					2																	58313465		2203	4286	6489	SO:0001627	intron_variant	7444			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.257-9T>A	2.37:g.58313465T>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	RNA	SNP	ENST00000435505.2	37	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.903923	0.33628	.	.	ENSG00000028116	ENST00000423109	.	.	.	5.33	2.96	0.34315	.	.	.	.	.	T	0.64349	0.2590	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63328	-0.6662	5	0.66056	D	0.02	.	9.0563	0.36408	0.0:0.1541:0.0:0.8459	.	.	.	.	D	87	.	ENSP00000394568:V87D	V	+	2	0	VRK2	58166969	0.742000	0.28228	0.611000	0.29010	0.446000	0.32137	0.228000	0.17814	0.423000	0.26033	-0.334000	0.08254	GTC		0.299	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2		NM_006296	
XIST	7503	broad.mit.edu;hgsc.bcm.edu	37	X	73068428	73068428	+	lincRNA	SNP	G	G	C			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chrX:73068428G>C	ENST00000429829.1	-	0	4160					NR_001564.2				X inactive specific transcript (non-protein coding)																		CTTTCTAATGGACAGGACTCT	0.433																																																	0													33.0	31.0	32.0					X																	73068428		876	1990	2866			7503			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73068428G>C		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000429829.1	37																																																																																					0.433	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1		NR_001564	
ZCCHC17	51538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	31782970	31782970	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr1:31782970A>G	ENST00000373714.1	+	2	286	c.25A>G	c.(25-27)Atg>Gtg	p.M9V	ZCCHC17_ENST00000422613.2_Intron|ZCCHC17_ENST00000546109.1_5'UTR|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.M9V|ZCCHC17_ENST00000479629.1_3'UTR	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	9						cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.M9V(1)		breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		GCCTGAGACCATGGAAAACTT	0.368																																																	1	Substitution - Missense(1)	kidney(1)											162.0	153.0	156.0					1																	31782970		2203	4300	6503	SO:0001583	missense	51538			AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"""Zinc fingers, CCHC domain containing"""	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.25A>G	1.37:g.31782970A>G	ENSP00000362819:p.Met9Val	Somatic		WXS	Illumina HiSeq	Phase_I	B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Missense_Mutation	SNP	ENST00000373714.1	37	CCDS341.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.646981	0.29246	.	.	ENSG00000121766	ENST00000344147;ENST00000373714	.	.	.	5.65	3.3	0.37823	.	0.143672	0.64402	N	0.000007	T	0.31857	0.0810	N	0.16478	0.41	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14448	-1.0472	9	0.59425	D	0.04	.	5.2733	0.15636	0.7138:0.1944:0.0918:0.0	.	9	Q9NP64	NO40_HUMAN	V	9	.	ENSP00000343557:M9V	M	+	1	0	ZCCHC17	31555557	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.226000	0.51254	1.151000	0.42436	0.533000	0.62120	ATG		0.368	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010665.1		NM_016505	
ZNF680	340252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	63981785	63981785	+	Silent	SNP	A	A	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr7:63981785A>G	ENST00000309683.6	-	4	1498	c.1347T>C	c.(1345-1347)ctT>ctC	p.L449L	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L449L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TATGGTTAGTAAGGGTTGAAA	0.373																																																	1	Substitution - coding silent(1)	kidney(1)											41.0	41.0	41.0					7																	63981785		2203	4298	6501	SO:0001819	synonymous_variant	340252			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1347T>C	7.37:g.63981785A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3KVJ4|Q6ZNF3|Q8NC79	Silent	SNP	ENST00000309683.6	37	CCDS34644.1																																																																																				0.373	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1		NM_178558	
ZNF708	7562	broad.mit.edu;hgsc.bcm.edu	37	19	21492050	21492050	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr19:21492050G>A	ENST00000356929.3	-	3	421	c.224C>T	c.(223-225)cCa>cTa	p.P75L		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P75L(1)		breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TCACCTACCTGGGGGTTTGGC	0.438																																																	1	Substitution - Missense(1)	kidney(1)											114.0	111.0	112.0					19																	21492050		2203	4298	6501	SO:0001583	missense	7562			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.224C>T	19.37:g.21492050G>A	ENSP00000349401:p.Pro75Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	5.638	0.302412	0.10678	.	.	ENSG00000182141	ENST00000356929	T	0.06687	3.27	0.225	0.225	0.15325	Krueppel-associated box (1);	.	.	.	.	T	0.10551	0.0258	M	0.73372	2.23	0.09310	N	0.999993	B	0.14438	0.01	B	0.17722	0.019	T	0.26780	-1.0093	8	0.59425	D	0.04	.	.	.	.	.	75	P17019	ZN708_HUMAN	L	75	ENSP00000349401:P75L	ENSP00000349401:P75L	P	-	2	0	ZNF708	21283890	0.016000	0.18221	0.134000	0.22075	0.138000	0.21146	0.083000	0.14871	0.300000	0.22699	0.305000	0.20034	CCA		0.438	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1		NM_021269	
ZNF782	158431	broad.mit.edu;ucsc.edu	37	9	99580322	99580322	+	Silent	SNP	G	G	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr9:99580322G>A	ENST00000481138.1	-	6	2644	c.1983C>T	c.(1981-1983)ctC>ctT	p.L661L	ZNF782_ENST00000535338.1_Silent_p.L529L|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L661L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GATGTACTCTGAGATTGGATT	0.413																																																	1	Substitution - coding silent(1)	kidney(1)											117.0	114.0	115.0					9																	99580322		2203	4300	6503	SO:0001819	synonymous_variant	158431			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1983C>T	9.37:g.99580322G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B2RNR0	Silent	SNP	ENST00000481138.1	37	CCDS35075.1	.	.	.	.	.	.	.	.	.	.	g	5.090	0.202323	0.09652	.	.	ENSG00000196597	ENST00000289032	.	.	.	2.78	1.88	0.25563	.	.	.	.	.	.	.	.	.	.	.	0.22601	N	0.998946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9822	0.14172	0.2804:0.0:0.7196:0.0	.	.	.	.	X	650	.	.	Q	-	1	0	ZNF782	98620143	0.000000	0.05858	0.993000	0.49108	0.997000	0.91878	-1.146000	0.03191	0.733000	0.32492	0.655000	0.94253	CAG		0.413	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1		NM_001001662	
LRCH2	57631	broad.mit.edu	37	X	114400841	114400841	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chrX:114400841C>A	ENST00000317135.8	-	7	1093	c.1063G>T	c.(1063-1065)Gag>Tag	p.E355*	LRCH2_ENST00000538422.1_Nonsense_Mutation_p.E355*	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	355								p.E355*(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						AATCGTTTCTCTCCATTATCA	0.338																																																	2	Substitution - Nonsense(2)	kidney(2)											57.0	51.0	53.0					X																	114400841		1815	4057	5872	SO:0001587	stop_gained	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.1063G>T	X.37:g.114400841C>A	ENSP00000325091:p.Glu355*	Somatic		WXS	Illumina GAIIx	Phase_I	F5H2T1|Q08AD5|Q9HA88|Q9P233	Nonsense_Mutation	SNP	ENST00000317135.8	37	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	C	37	6.232991	0.97399	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	.	.	.	4.94	4.94	0.65067	.	0.058748	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.7265	16.0096	0.80391	0.0:1.0:0.0:0.0	.	.	.	.	X	355	.	ENSP00000325091:E355X	E	-	1	0	LRCH2	114307097	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.256000	0.78350	2.166000	0.68216	0.415000	0.27848	GAG		0.338	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2		NM_020871	
RNF217-AS1	7955	broad.mit.edu	37	6	125233608	125233608	+	RNA	SNP	T	T	C			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr6:125233608T>C	ENST00000439075.1	-	0	1137					NR_026876.1																						CTTTCTTGGCTAATATGATTT	0.388																																																	0													58.0	60.0	59.0					6																	125233608		876	1990	2866			7955																															6.37:g.125233608T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000439075.1	37																																																																																					0.388	RP11-510H23.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000042059.1			
RP11-24M17.5	0	broad.mit.edu	37	15	76073205	76073205	+	RNA	SNP	C	C	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr15:76073205C>T	ENST00000395215.3	+	0	494																		p.F151F(1)									CCCGACACTTCGAAGGTGGGA	0.502																																																	1	Substitution - coding silent(1)	kidney(1)																																										0																															15.37:g.76073205C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000395215.3	37																																																																																					0.502	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			
TMC3	342125	broad.mit.edu	37	15	81633742	81633742	+	Silent	SNP	A	A	G			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr15:81633742A>G	ENST00000359440.5	-	16	1968	c.1833T>C	c.(1831-1833)ttT>ttC	p.F611F	RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000559277.1_RNA|TMC3_ENST00000558726.1_Silent_p.F612F|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.F611F(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTGAGGCTCGAAATACTTGCT	0.473																																																	1	Substitution - coding silent(1)	kidney(1)											43.0	43.0	43.0					15																	81633742		1941	4145	6086	SO:0001819	synonymous_variant	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1833T>C	15.37:g.81633742A>G		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000359440.5	37	CCDS45324.1																																																																																				0.473	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3		NM_181841	
SMG1P7	100506060	broad.mit.edu	37	16	70268080	70268080	+	RNA	SNP	T	T	C			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr16:70268080T>C	ENST00000459379.1	-	0	0																											GTCTTACTGTTGGCTAAAAGG	0.373																																																	0																																												0																															16.37:g.70268080T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000459379.1	37																																																																																					0.373	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-B0-5120-01A-01D-1421-08	TCGA-B0-5120-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce58fbc-6742-4ade-84b0-cd025266e030	b35280fe-dbfa-4e45-8f49-3d0489e68743	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																																	8	Substitution - coding silent(8)	lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)											4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110			AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	CCDS9543.1																																																																																				0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			
