#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
ACOX3	8310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	8418179	8418179	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr4:8418179A>G	ENST00000356406.5	-	2	147	c.70T>C	c.(70-72)Tac>Cac	p.Y24H	ACOX3_ENST00000503233.1_Missense_Mutation_p.Y24H|ACOX3_ENST00000413009.2_Missense_Mutation_p.Y24H	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	24					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.Y24H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CTTGCTCGGTAGGCATCGAGG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											69.0	69.0	69.0					4																	8418179		2203	4300	6503	SO:0001583	missense	8310			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.70T>C	4.37:g.8418179A>G	ENSP00000348775:p.Tyr24His	Somatic		WXS	Illumina HiSeq	Phase_I	Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.412912	0.62511	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	T;T;T	0.44482	0.92;0.92;0.92	3.63	2.43	0.29744	Acyl-CoA dehydrogenase/oxidase (1);	0.141888	0.49916	D	0.000139	T	0.63522	0.2518	M	0.86268	2.805	0.51767	D	0.999938	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.64063	-0.6495	10	0.54805	T	0.06	-16.8544	9.2587	0.37599	0.8055:0.1945:0.0:0.0	.	24;24	O15254-2;O15254	.;ACOX3_HUMAN	H	24	ENSP00000413994:Y24H;ENSP00000348775:Y24H;ENSP00000421625:Y24H	ENSP00000348775:Y24H	Y	-	1	0	ACOX3	8469079	1.000000	0.71417	0.024000	0.17045	0.054000	0.15201	5.436000	0.66538	0.573000	0.29400	0.454000	0.30748	TAC		0.602	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			
AKAP2	11217	hgsc.bcm.edu	37	9	112900482	112900483	+	Frame_Shift_Ins	INS	-	-	C	rs376237093		TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr9:112900482_112900483insC	ENST00000259318.7	+	2	2172_2173	c.1965_1966insC	c.(1966-1968)cccfs	p.P656fs	AKAP2_ENST00000510514.5_Frame_Shift_Ins_p.P887fs|AKAP2_ENST00000482335.1_3'UTR|PALM2-AKAP2_ENST00000374530.3_Frame_Shift_Ins_p.P887fs|AKAP2_ENST00000434623.2_Frame_Shift_Ins_p.P745fs|AKAP2_ENST00000555236.1_Frame_Shift_Ins_p.P887fs|AKAP2_ENST00000374525.1_Frame_Shift_Ins_p.P745fs|PALM2-AKAP2_ENST00000302798.7_Frame_Shift_Ins_p.P887fs	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	656										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GGGAAAGGGGGCCCCCCCAGCC	0.564																																																	0																																										SO:0001589	frameshift_variant	11217			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1972dupC	9.37:g.112900489_112900489dupC	ENSP00000259318:p.Pro656fs	Somatic		WXS	Illumina HiSeq	Phase_I	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Frame_Shift_Ins	INS	ENST00000259318.7	37	CCDS48003.1																																																																																				0.564	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3		NM_001004065	
AKR1B15	441282	broad.mit.edu;hgsc.bcm.edu	37	7	134261166	134261166	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr7:134261166A>G	ENST00000457545.2	+	9	1069	c.809A>G	c.(808-810)aAa>aGa	p.K270R	AKR1B15_ENST00000423958.1_Missense_Mutation_p.K242R	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	270							oxidoreductase activity (GO:0016491)	p.K242R(1)|p.K270R(1)|p.K288R(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GCAAAGCACAAAAAAACCACA	0.448																																																	3	Substitution - Missense(3)	kidney(3)											66.0	73.0	70.0					7																	134261166		2203	4300	6503	SO:0001583	missense	441282				CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.809A>G	7.37:g.134261166A>G	ENSP00000389289:p.Lys270Arg	Somatic		WXS	Illumina HiSeq	Phase_I	C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	A	11.14	1.550198	0.27652	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.25250	1.81;1.81	3.59	3.59	0.41128	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.21307	0.0513	L	0.31526	0.94	0.42822	D	0.993998	B;B	0.25169	0.004;0.119	B;B	0.31337	0.005;0.128	T	0.08848	-1.0702	9	0.56958	D	0.05	.	11.1763	0.48601	1.0:0.0:0.0:0.0	.	242;270	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	R	270;242	ENSP00000389289:K270R;ENSP00000397009:K242R	ENSP00000397009:K242R	K	+	2	0	AKR1B15	133911706	0.997000	0.39634	0.788000	0.31933	0.493000	0.33554	4.517000	0.60503	1.493000	0.48517	0.333000	0.21579	AAA		0.448	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			
AKR7A3	22977	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	19611597	19611597	+	Silent	SNP	A	A	G	rs569591525	byFrequency	TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr1:19611597A>G	ENST00000361640.4	-	4	1059	c.519T>C	c.(517-519)aaT>aaC	p.N173N		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	173					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)	p.N173N(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTGATGGCATTGTACATGC	0.542													G|||	3	0.000599042	0.0	0.0	5008	,	,		16956	0.0		0.0	False		,,,				2504	0.0031																1	Substitution - coding silent(1)	kidney(1)											63.0	65.0	65.0					1																	19611597		2199	4300	6499	SO:0001819	synonymous_variant	22977			AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"""Aldo-keto reductases"""	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.519T>C	1.37:g.19611597A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Silent	SNP	ENST00000361640.4	37	CCDS193.1																																																																																				0.542	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1		NM_012067	
AMOTL1	154810	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	94592715	94592715	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr11:94592715A>G	ENST00000433060.2	+	9	2111	c.1970A>G	c.(1969-1971)aAc>aGc	p.N657S	AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.N607S	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	657					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.N658S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CAGCCAGCCAACATGCCGGAA	0.517																																																	1	Substitution - Missense(1)	kidney(1)											48.0	51.0	50.0					11																	94592715		2188	4297	6485	SO:0001583	missense	154810			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1970A>G	11.37:g.94592715A>G	ENSP00000387739:p.Asn657Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	A	4.355	0.065392	0.08388	.	.	ENSG00000166025	ENST00000317829;ENST00000433060	T;T	0.15718	2.4;2.4	6.08	0.3	0.15776	Angiomotin, C-terminal (1);	0.508491	0.22932	N	0.053882	T	0.06096	0.0158	N	0.05510	-0.035	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.42599	-0.9442	10	0.02654	T	1	-5.0413	9.0816	0.36556	0.3783:0.097:0.5247:0.0	.	607;657	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	S	607;657	ENSP00000320968:N607S;ENSP00000387739:N657S	ENSP00000320968:N607S	N	+	2	0	AMOTL1	94232363	0.008000	0.16893	0.003000	0.11579	0.023000	0.10783	1.131000	0.31406	0.134000	0.18681	-0.242000	0.12053	AAC		0.517	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3		NM_130847	
CFAP46	54777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	134743171	134743171	+	Missense_Mutation	SNP	G	G	A	rs149229934		TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr10:134743171G>A	ENST00000368585.3	-	9	1342	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V	TTC40_ENST00000368586.5_Intron|TTC40_ENST00000368582.2_Intron														p.A277V(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGTGAGCAGCGCCTCATCCCC	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18135	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						G	VAL/ALA	5,4401	9.9+/-24.2	0,5,2198	135.0	124.0	128.0		1004	-3.9	0.0	10	dbSNP_134	128	0,8600		0,0,4300	no	missense	C10orf93	NM_173572.3	64	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign	335/406	134743171	5,13001	2203	4300	6503	SO:0001583	missense	0																														ENST00000368585.3:c.1004C>T	10.37:g.134743171G>A	ENSP00000357574:p.Ala335Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000368585.3	37		.	.	.	.	.	.	.	.	.	.	G	1.194	-0.634487	0.03584	0.001135	0.0	ENSG00000171811	ENST00000368585	T	0.44083	0.93	1.97	-3.94	0.04130	.	7.591570	0.00654	U	0.000573	T	0.22475	0.0542	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.18555	-1.0333	10	0.54805	T	0.06	.	3.4879	0.07626	0.1108:0.277:0.4529:0.1594	.	335	Q5SR76-1	.	V	335	ENSP00000357574:A335V	ENSP00000357574:A335V	A	-	2	0	C10orf93	134593161	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.613000	0.00883	-3.344000	0.00182	-1.569000	0.00873	GCG		0.557	TTC40-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000051099.1			
CADPS	8618	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	62423832	62423832	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr3:62423832C>G	ENST00000383710.4	-	28	4073	c.3724G>C	c.(3724-3726)Gat>Cat	p.D1242H	CADPS_ENST00000283269.9_Missense_Mutation_p.D1203H|CADPS_ENST00000357948.3_Missense_Mutation_p.D1163H	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1242	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.D1203H(1)|p.D1242H(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CGCAGGACATCCTGAGAATGG	0.468																																																	2	Substitution - Missense(2)	kidney(2)											100.0	94.0	96.0					3																	62423832		2203	4300	6503	SO:0001583	missense	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3724G>C	3.37:g.62423832C>G	ENSP00000373215:p.Asp1242His	Somatic		WXS	Illumina HiSeq	Phase_I	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.8|21.8|21.8	4.206768|4.206768|4.206768	0.79127|0.79127|0.79127	.|.|.	.|.|.	ENSG00000163618|ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000466621|ENST00000473635	T;T;T|.|.	0.33654|.|.	1.4;1.4;1.4|.|.	5.65|5.65|5.65	5.65|5.65|5.65	0.86999|0.86999|0.86999	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.82079|0.82079|0.82079	0.4959|0.4959|0.4959	M|M|M	0.81497|0.81497|0.81497	2.545|2.545|2.545	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0|.|.	D;D;D;D|.|.	0.87578|.|.	0.998;0.997;0.997;0.996|.|.	T|T|T	0.82037|0.82037|0.82037	-0.0656|-0.0656|-0.0656	10|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	19.7806|19.7806|19.7806	0.96414|0.96414|0.96414	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	1163;1203;1242;1247|.|.	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.|.	.;.;CAPS1_HUMAN;.|.|.	H|A|S	1248;1242;1163;1203|142|233	ENSP00000373215:D1242H;ENSP00000350632:D1163H;ENSP00000283269:D1203H|.|.	ENSP00000283269:D1203H|.|.	D|G|R	-|-|-	1|2|3	0|0|2	CADPS|CADPS|CADPS	62398872|62398872|62398872	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	7.770000|7.770000|7.770000	0.85390|0.85390|0.85390	2.668000|2.668000|2.668000	0.90789|0.90789|0.90789	0.644000|0.644000|0.644000	0.83932|0.83932|0.83932	GAT|GGA|AGG		0.468	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5		NM_003716, NM_183393, NM_183394	
CALHM3	119395	broad.mit.edu;hgsc.bcm.edu	37	10	105236264	105236264	+	Silent	SNP	G	G	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr10:105236264G>A	ENST00000369783.4	-	2	537	c.330C>T	c.(328-330)ccC>ccT	p.P110P		NM_001129742.1	NP_001123214.1	Q86XJ0	CAHM3_HUMAN	calcium homeostasis modulator 3	110					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.P110P(2)		kidney(1)|large_intestine(1)	2						TCCAGACCAGGGGGGCGGCCA	0.622																																																	2	Substitution - coding silent(2)	kidney(2)											25.0	25.0	25.0					10																	105236264		692	1591	2283	SO:0001819	synonymous_variant	119395			BC043367	CCDS44476.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000183128	ENSG00000183128			23458	protein-coding gene	gene with protein product			"""family with sequence similarity 26, member A"""	FAM26A		18585350	Standard	NM_001129742		Approved	bA225H22.7	uc001kxg.4	Q86XJ0	OTTHUMG00000018989	ENST00000369783.4:c.330C>T	10.37:g.105236264G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5W090|Q8IXR2	Silent	SNP	ENST00000369783.4	37	CCDS44476.1																																																																																				0.622	CALHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050157.1		NM_182494	
CBFA2T3	863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	88945789	88945789	+	Silent	SNP	G	G	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr16:88945789G>A	ENST00000268679.4	-	11	1947	c.1551C>T	c.(1549-1551)caC>caT	p.H517H	RP11-830F9.5_ENST00000562405.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|RP11-830F9.5_ENST00000569249.1_RNA|CBFA2T3_ENST00000448839.1_Silent_p.H441H|CBFA2T3_ENST00000436887.2_Silent_p.H479H|CBFA2T3_ENST00000360302.2_Silent_p.H431H|CBFA2T3_ENST00000327483.5_Silent_p.H431H	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	517					cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H517H(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TGATGAGCTCGTGCGCTTTGC	0.662			T	RUNX1	AML																																			Dom	yes		16	16q24	863	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""		L	1	Substitution - coding silent(1)	kidney(1)											81.0	70.0	74.0					16																	88945789		2198	4298	6496	SO:0001819	synonymous_variant	863			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1551C>T	16.37:g.88945789G>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Silent	SNP	ENST00000268679.4	37	CCDS10972.1																																																																																				0.662	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2		NM_005187	
CD300C	10871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	72537855	72537855	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr17:72537855C>G	ENST00000330793.1	-	4	908	c.548G>C	c.(547-549)cGc>cCc	p.R183P		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	183					cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.R183P(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GAGCAGGAAGCGGACATTGCT	0.632																																					Esophageal Squamous(66;421 1121 20537 25337 27468)												1	Substitution - Missense(1)	kidney(1)											91.0	71.0	78.0					17																	72537855		2203	4300	6503	SO:0001583	missense	10871			BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19320	protein-coding gene	gene with protein product		606786	"""CD300c antigen"""			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.548G>C	17.37:g.72537855C>G	ENSP00000329507:p.Arg183Pro	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000330793.1	37	CCDS11701.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485538	0.26686	.	.	ENSG00000167850	ENST00000330793	T	0.03524	3.9	4.74	1.14	0.20703	.	0.803692	0.10638	N	0.651326	T	0.03783	0.0107	L	0.34521	1.04	0.22171	N	0.999316	P	0.52692	0.955	P	0.44561	0.453	T	0.46456	-0.9190	10	0.36615	T	0.2	.	6.0829	0.19950	0.0:0.3172:0.0:0.6828	.	183	Q08708	CLM6_HUMAN	P	183	ENSP00000329507:R183P	ENSP00000329507:R183P	R	-	2	0	CD300C	70049450	0.046000	0.20272	0.816000	0.32577	0.059000	0.15707	-0.025000	0.12413	0.379000	0.24794	-0.435000	0.05868	CGC		0.632	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1		NM_006678	
CHD5	26038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	6214898	6214898	+	Silent	SNP	A	A	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr1:6214898A>C	ENST00000262450.3	-	5	666	c.567T>G	c.(565-567)ggT>ggG	p.G189G	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.G189G(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCCACTTGGCACCCAGGACGG	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											57.0	60.0	59.0					1																	6214898		2203	4300	6503	SO:0001819	synonymous_variant	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.567T>G	1.37:g.6214898A>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	CCDS57.1																																																																																				0.637	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2		NM_015557	
CHRDL2	25884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	74413875	74413875	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr11:74413875C>T	ENST00000376332.3	-	9	1580	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.D362N	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	362					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.D362N(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					TCCACCAAGTCCGAGGCCTCG	0.632											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											111.0	108.0	109.0					11																	74413875		2200	4293	6493	SO:0001583	missense	25884			AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.1084G>A	11.37:g.74413875C>T	ENSP00000365510:p.Asp362Asn	Somatic	1152	WXS	Illumina HiSeq	Phase_I	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37		.	.	.	.	.	.	.	.	.	.	C	13.47	2.246504	0.39697	.	.	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519;ENST00000528789	T;T;T	0.62941	-0.01;-0.01;-0.01	5.09	5.09	0.68999	.	0.283470	0.36303	N	0.002663	T	0.58424	0.2121	L	0.46157	1.445	0.33526	D	0.593016	B;B;B	0.29531	0.247;0.134;0.178	B;B;B	0.33568	0.166;0.103;0.157	T	0.69803	-0.5046	10	0.52906	T	0.07	-8.0809	14.339	0.66611	0.0:1.0:0.0:0.0	.	297;362;362	E9PCG7;Q6WN34;Q6WN34-2	.;CRDL2_HUMAN;.	N	362;362;248;246;297	ENSP00000263671:D362N;ENSP00000365510:D362N;ENSP00000431380:D297N	ENSP00000263671:D362N	D	-	1	0	CHRDL2	74091523	0.998000	0.40836	0.992000	0.48379	0.073000	0.16967	4.707000	0.61852	2.517000	0.84864	0.561000	0.74099	GAC		0.632	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			
COPA	1314	hgsc.bcm.edu;ucsc.edu	37	1	160267213	160267220	+	Frame_Shift_Del	DEL	TCCTTTCT	TCCTTTCT	-			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	TCCTTTCT	TCCTTTCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr1:160267213_160267220delTCCTTTCT	ENST00000241704.7	-	21	2405_2412	c.2176_2183delAGAAAGGA	c.(2176-2184)agaaaggacfs	p.RKD726fs	COPA_ENST00000368069.3_Frame_Shift_Del_p.RKD735fs	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	726					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCACTCATGTCCTTTCTGATCTCAGCT	0.481																																																	0																																										SO:0001589	frameshift_variant	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2176_2183delAGAAAGGA	1.37:g.160267213_160267220delTCCTTTCT	ENSP00000241704:p.Arg726fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T201|Q8IXZ9	Frame_Shift_Del	DEL	ENST00000241704.7	37	CCDS1202.1																																																																																				0.481	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1		NM_004371	
CR1	1378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	207685001	207685001	+	Splice_Site	SNP	T	T	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr1:207685001T>A	ENST00000367049.4	+	4	487		c.e4+2		CR1_ENST00000367052.1_Splice_Site|CR1_ENST00000367051.1_Splice_Site|CR1_ENST00000367050.4_Splice_Site|CR1_ENST00000367053.1_Splice_Site|CR1_ENST00000400960.2_Splice_Site	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)						complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTGTGACAGtgagttgaaat	0.373																																																	2	Unknown(2)	kidney(2)											177.0	161.0	166.0					1																	207685001		1934	4131	6065	SO:0001630	splice_region_variant	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.487+2T>A	1.37:g.207685001T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Splice_Site	SNP	ENST00000367049.4	37	CCDS44308.1																																																																																				0.373	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1		NM_000573	Intron
DAPK1	1612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	90258354	90258354	+	Missense_Mutation	SNP	A	A	G	rs370466694		TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr9:90258354A>G	ENST00000408954.3	+	11	1317	c.982A>G	c.(982-984)Atg>Gtg	p.M328V	DAPK1_ENST00000358077.5_Missense_Mutation_p.M328V|DAPK1_ENST00000469640.2_Missense_Mutation_p.M328V|DAPK1_ENST00000491893.1_Missense_Mutation_p.M328V|DAPK1_ENST00000472284.1_Missense_Mutation_p.M328V	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	328	Calmodulin-binding.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M328V(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CAGAAGTAACATGAGTGTTGC	0.428									Chronic Lymphocytic Leukemia, Familial Clustering of																																								2	Substitution - Missense(2)	kidney(2)						A	VAL/MET	0,3814		0,0,1907	84.0	83.0	83.0		982	3.1	1.0	9		83	1,8259		0,1,4129	no	missense	DAPK1	NM_004938.2	21	0,1,6036	GG,GA,AA		0.0121,0.0,0.0083	benign	328/1431	90258354	1,12073	1907	4130	6037	SO:0001583	missense	1612	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.982A>G	9.37:g.90258354A>G	ENSP00000386135:p.Met328Val	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.469086	0.43839	0.0	1.21E-4	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.09	5.45	3.06	0.35304	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000005	T	0.47358	0.1441	L	0.46157	1.445	0.44289	D	0.997156	B;B;B	0.33477	0.413;0.003;0.012	B;B;B	0.26094	0.066;0.006;0.006	T	0.26883	-1.0090	10	0.25106	T	0.35	.	8.1579	0.31180	0.7949:0.1353:0.0697:0.0	.	328;328;328	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	V	328	ENSP00000350785:M328V;ENSP00000417076:M328V;ENSP00000418885:M328V;ENSP00000386135:M328V;ENSP00000419026:M328V	ENSP00000350785:M328V	M	+	1	0	DAPK1	89448174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.877000	0.63086	0.434000	0.26340	0.533000	0.62120	ATG		0.428	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1		NM_004938	
DNAH5	1767	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	13719054	13719054	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr5:13719054A>C	ENST00000265104.4	-	72	12540	c.12436T>G	c.(12436-12438)Tcc>Gcc	p.S4146A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4146	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S4146A(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATTTAATGGACATCTGAAGG	0.463									Kartagener syndrome																																								1	Substitution - Missense(1)	kidney(1)											143.0	141.0	142.0					5																	13719054		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12436T>G	5.37:g.13719054A>C	ENSP00000265104:p.Ser4146Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	7.940	0.742620	0.15642	.	.	ENSG00000039139	ENST00000265104	T	0.12984	2.63	5.59	-1.81	0.07882	Dynein heavy chain (1);	0.301987	0.37136	N	0.002235	T	0.16557	0.0398	M	0.79693	2.465	0.41102	D	0.985675	B	0.11235	0.004	B	0.23574	0.047	T	0.09058	-1.0692	10	0.27785	T	0.31	.	10.4785	0.44678	0.4294:0.4601:0.0:0.1104	.	4146	Q8TE73	DYH5_HUMAN	A	4146	ENSP00000265104:S4146A	ENSP00000265104:S4146A	S	-	1	0	DNAH5	13772054	1.000000	0.71417	0.988000	0.46212	0.067000	0.16453	1.859000	0.39418	-0.549000	0.06191	-1.437000	0.01076	TCC		0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369	
DOPEY1	23033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	83872600	83872600	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr6:83872600G>C	ENST00000349129.2	+	38	7314	c.7054G>C	c.(7054-7056)Gtg>Ctg	p.V2352L	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.V2343L|DOPEY1_ENST00000237163.5_Missense_Mutation_p.V2236L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2352					protein transport (GO:0015031)			p.V2352L(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TAAACCTTACGTGGTACGACT	0.393																																																	1	Substitution - Missense(1)	kidney(1)											209.0	195.0	200.0					6																	83872600		2203	4300	6503	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.7054G>C	6.37:g.83872600G>C	ENSP00000195654:p.Val2352Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501475	0.85176	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.42900	0.96;0.96	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.39397	1.21	0.80722	D	1	P;B;B	0.46784	0.884;0.174;0.174	B;B;B	0.38327	0.271;0.045;0.045	T	0.04767	-1.0928	10	0.42905	T	0.14	.	19.9326	0.97124	0.0:0.0:1.0:0.0	.	2243;2343;2352	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	L	2352;2236;2236	ENSP00000195654:V2352L;ENSP00000237163:V2236L	ENSP00000237163:V2236L	V	+	1	0	DOPEY1	83929319	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	7.569000	0.82380	2.720000	0.93068	0.650000	0.86243	GTG		0.393	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2		NM_015018	
DSG1	1828	broad.mit.edu;ucsc.edu	37	18	28935225	28935225	+	Silent	SNP	C	C	T			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr18:28935225C>T	ENST00000257192.4	+	15	3278	c.3066C>T	c.(3064-3066)caC>caT	p.H1022H	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Silent_p.H381H|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	1022					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.H1022H(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTGACCATCACTTTAACCAAA	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											89.0	82.0	84.0					18																	28935225		2203	4300	6503	SO:0001819	synonymous_variant	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.3066C>T	18.37:g.28935225C>T		Somatic		WXS	Illumina GAIIx	Phase_I	B7Z845	Silent	SNP	ENST00000257192.4	37	CCDS11896.1																																																																																				0.542	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1		NM_001942	
DSPP	1834	hgsc.bcm.edu	37	4	88536934	88536934	+	Silent	SNP	C	C	T	rs200948555		TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr4:88536934C>T	ENST00000282478.7	+	4	3153	c.3120C>T	c.(3118-3120)agC>agT	p.S1040S	DSPP_ENST00000399271.1_Silent_p.S1040S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1040	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgacagcagcgatagcagtg	0.527																																																	0								C		2,3110		0,2,1554	57.0	65.0	62.0		3120	-2.8	0.7	4	dbSNP_134	62	7,5519		0,7,2756	no	coding-synonymous	DSPP	NM_014208.3		0,9,4310	TT,TC,CC		0.1267,0.0643,0.1042		1040/1302	88536934	9,8629	1556	2763	4319	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3120C>T	4.37:g.88536934C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																				0.527	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3		NM_014208	
DUOXA2	405753	hgsc.bcm.edu;ucsc.edu	37	15	45409941	45409941	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr15:45409941delC	ENST00000323030.5	+	6	1082	c.797delC	c.(796-798)gccfs	p.A266fs	DUOXA1_ENST00000430224.2_Frame_Shift_Del_p.R363fs|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000267803.4_Frame_Shift_Del_p.R408fs|DUOXA1_ENST00000559014.1_Frame_Shift_Del_p.R408fs	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	266					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CTCGGAGGGGCCGTGGTGAGT	0.617																																																	0													68.0	67.0	67.0					15																	45409941		2198	4298	6496	SO:0001589	frameshift_variant	90527			BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.797delC	15.37:g.45409941delC	ENSP00000319705:p.Ala266fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RPI9|H0YNQ6	Frame_Shift_Del	DEL	ENST00000323030.5	37	CCDS10118.2																																																																																				0.617	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1		NM_207581	
EIF2A	83939	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	150264590	150264590	+	Start_Codon_SNP	SNP	A	A	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr3:150264590A>G	ENST00000460851.1	+	1	110	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	EIF2A_ENST00000406576.3_Start_Codon_SNP_p.M1V|EIF2A_ENST00000487799.1_Start_Codon_SNP_p.M1V|SERP1_ENST00000487153.1_5'Flank|SERP1_ENST00000491660.1_5'Flank|SERP1_ENST00000239944.2_5'Flank|SERP1_ENST00000479209.1_5'UTR|EIF2A_ENST00000273435.5_Start_Codon_SNP_p.M1V			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	1					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)	p.M1V(2)		cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCGGGACAACATGGCGCCGTC	0.537																																																	2	Substitution - Missense(2)	kidney(2)											83.0	91.0	89.0					3																	150264590		1846	4085	5931	SO:0001582	initiator_codon_variant	83939			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1A>G	3.37:g.150264590A>G	ENSP00000417229:p.Met1Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	ENST00000460851.1	37	CCDS46935.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337719	0.60963	.	.	ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000482093;ENST00000273435	T;T;T;T;T	0.36520	1.25;1.62;1.51;1.55;1.61	4.96	4.96	0.65561	.	0.043171	0.85682	D	0.000000	T	0.32526	0.0832	.	.	.	0.80722	D	1	B;P;P	0.36162	0.044;0.539;0.54	B;B;B	0.33254	0.036;0.125;0.16	T	0.26189	-1.0110	9	0.87932	D	0	-10.5904	13.762	0.62973	1.0:0.0:0.0:0.0	.	1;1;1	B4DF96;B4DQ14;Q9BY44	.;.;EIF2A_HUMAN	V	1	ENSP00000420537:M1V;ENSP00000417229:M1V;ENSP00000385292:M1V;ENSP00000418698:M1V;ENSP00000273435:M1V	ENSP00000273435:M1V	M	+	1	0	EIF2A	151747280	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.281000	0.72632	2.086000	0.62901	0.533000	0.62120	ATG		0.537	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2		NM_032025	Missense_Mutation
ESCO2	157570	hgsc.bcm.edu;ucsc.edu	37	8	27634237	27634237	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr8:27634237delA	ENST00000305188.8	+	3	650	c.412delA	c.(412-414)aaafs	p.K139fs	RNU6-1276P_ENST00000365372.1_RNA|ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	139					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GAAGAACAACAAAAAACCACA	0.348									SC Phocomelia syndrome																																								0													56.0	53.0	54.0					8																	27634237		2203	4300	6503	SO:0001589	frameshift_variant	157570	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.412delA	8.37:g.27634237delA	ENSP00000306999:p.Lys139fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KW59|Q49AP4	Frame_Shift_Del	DEL	ENST00000305188.8	37	CCDS34872.1																																																																																				0.348	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1		NM_001017420	
GCNT2	2651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	10621587	10621587	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr6:10621587T>C	ENST00000379597.3	+	2	1485	c.929T>C	c.(928-930)gTt>gCt	p.V310A	GCNT2_ENST00000316170.3_Missense_Mutation_p.V308A|GCNT2_ENST00000265012.4_Missense_Mutation_p.V310A|GCNT2_ENST00000495262.1_Missense_Mutation_p.V310A|GCNT2_ENST00000397423.2_3'UTR|GCNT2_ENST00000410107.1_Missense_Mutation_p.V24A			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	310					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.V310A(2)|p.V308A(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		ATTGCAGGTGTTCCTGGCTCT	0.468																																																	3	Substitution - Missense(3)	kidney(3)											89.0	79.0	82.0					6																	10621587		2203	4300	6503	SO:0001583	missense	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.929T>C	6.37:g.10621587T>C	ENSP00000368917:p.Val310Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000379597.3	37	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.616288	0.46631	.	.	ENSG00000111846	ENST00000410107;ENST00000495262;ENST00000379597;ENST00000316170;ENST00000265012	T;T;T;T;T	0.52754	0.65;2.67;2.67;2.67;2.81	5.51	5.51	0.81932	.	0.631279	0.16034	N	0.232711	T	0.35364	0.0929	L	0.46885	1.475	0.40937	D	0.984431	B;P;B;B	0.47191	0.003;0.891;0.015;0.045	B;P;B;B	0.47299	0.028;0.543;0.048;0.041	T	0.09143	-1.0688	10	0.27082	T	0.32	-38.119	13.8698	0.63612	0.0:0.0:0.0:1.0	.	310;24;310;308	Q8N0V5;B7ZBL3;Q8NFS9;Q06430	GNT2A_HUMAN;.;GNT2C_HUMAN;GNT2B_HUMAN	A	24;310;310;308;310	ENSP00000386321:V24A;ENSP00000419411:V310A;ENSP00000368917:V310A;ENSP00000314844:V308A;ENSP00000265012:V310A	ENSP00000265012:V310A	V	+	2	0	GCNT2	10729573	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	3.475000	0.53136	2.103000	0.63969	0.533000	0.62120	GTT		0.468	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3		NM_145649	
GREB1L	80000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	19076555	19076555	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr18:19076555G>T	ENST00000580732.2	+	21	3668	c.3287G>T	c.(3286-3288)gGg>gTg	p.G1096V	GREB1L_ENST00000269218.6_Missense_Mutation_p.G987V|GREB1L_ENST00000424526.1_Missense_Mutation_p.G1096V|GREB1L_ENST00000400483.4_3'UTR			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	1096						integral component of membrane (GO:0016021)		p.G1096V(1)		breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						GACCTCAGCGGGAAGGAGCAG	0.597																																																	1	Substitution - Missense(1)	kidney(1)											70.0	73.0	72.0					18																	19076555		692	1591	2283	SO:0001583	missense	80000			AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.3287G>T	18.37:g.19076555G>T	ENSP00000464162:p.Gly1096Val	Somatic		WXS	Illumina HiSeq	Phase_I	A4QN17|Q9H8F1	Missense_Mutation	SNP	ENST00000580732.2	37	CCDS45836.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067043	0.55539	.	.	ENSG00000141449	ENST00000424526;ENST00000269218	T;T	0.06687	3.27;3.27	5.59	3.53	0.40419	.	0.154112	0.43579	D	0.000559	T	0.05502	0.0145	N	0.19112	0.55	0.80722	D	1	B;B;B	0.30686	0.161;0.29;0.161	B;B;B	0.35413	0.079;0.202;0.116	T	0.35943	-0.9768	10	0.59425	D	0.04	-10.0782	2.6333	0.04951	0.2624:0.2978:0.4398:0.0	.	987;1096;470	Q9C091-3;Q9C091;B4DDS9	.;GRB1L_HUMAN;.	V	1096;987	ENSP00000412060:G1096V;ENSP00000269218:G987V	ENSP00000269218:G987V	G	+	2	0	GREB1L	17330553	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	6.128000	0.71650	1.327000	0.45338	0.609000	0.83330	GGG		0.597	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443782.2		NM_024935	
HYOU1	10525	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118917418	118917418	+	Silent	SNP	G	G	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr11:118917418G>A	ENST00000404233.3	-	23	2816	c.2692C>T	c.(2692-2694)Ctg>Ttg	p.L898L	RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000529972.1_Silent_p.L836L|HYOU1_ENST00000525859.1_Silent_p.L836L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	898					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.L898L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TCTCGGTCCAGGGCCATCATC	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											109.0	108.0	109.0					11																	118917418		2200	4295	6495	SO:0001819	synonymous_variant	10525			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2692C>T	11.37:g.118917418G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8C1Z0|B7Z909|Q2I204|Q53H25	Silent	SNP	ENST00000404233.3	37	CCDS8408.1																																																																																				0.572	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1		NM_006389	
IFFO2	126917	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	19246190	19246190	+	Silent	SNP	A	A	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr1:19246190A>G	ENST00000455833.2	-	3	1157	c.804T>C	c.(802-804)ttT>ttC	p.F268F	RP13-279N23.2_ENST00000494072.3_Nonstop_Mutation_p.*47Q	NM_001136265.1	NP_001129737.1	Q5TF58	IFFO2_HUMAN	intermediate filament family orphan 2	268						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.F268F(2)		endometrium(1)|kidney(1)	2						TAAGCCCCTTAAACACCACCA	0.612																																																	2	Substitution - coding silent(2)	kidney(2)											176.0	147.0	156.0					1																	19246190		692	1591	2283	SO:0001819	synonymous_variant	126917			AK024480, AL080251	CCDS44076.1	1p36.13	2013-10-11			ENSG00000169991	ENSG00000169991		"""Intermediate filament family orphans"""	27006	protein-coding gene	gene with protein product						14702039	Standard	NM_001136265		Approved		uc001bbd.2	Q5TF58	OTTHUMG00000002499	ENST00000455833.2:c.804T>C	1.37:g.19246190A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H7K0	Silent	SNP	ENST00000455833.2	37	CCDS44076.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.306061	0.23736	.	.	ENSG00000169991	ENST00000416166	.	.	.	5.48	2.05	0.26809	.	.	.	.	.	T	0.55130	0.1901	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47058	-0.9146	4	.	.	.	.	7.291	0.26366	0.5472:0.0:0.4528:0.0	.	.	.	.	S	57	.	.	L	-	2	0	IFFO2	19118777	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.724000	0.25954	0.527000	0.28560	0.533000	0.62120	TTA		0.612	IFFO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007099.2		NM_001136265	
IFT140	9742	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1652468	1652468	+	Missense_Mutation	SNP	T	T	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr16:1652468T>A	ENST00000426508.2	-	4	635	c.272A>T	c.(271-273)cAg>cTg	p.Q91L	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	91					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.Q91L(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CTCCTTGTCCTGCTTGTTAAA	0.632																																																	1	Substitution - Missense(1)	kidney(1)											170.0	124.0	139.0					16																	1652468		2199	4300	6499	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.272A>T	16.37:g.1652468T>A	ENSP00000406012:p.Gln91Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582394	0.65992	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T;T	0.61980	0.06;1.55	4.82	3.73	0.42828	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.056421	0.64402	D	0.000001	T	0.65760	0.2722	M	0.68593	2.085	0.47407	D	0.999415	P	0.51351	0.944	P	0.51229	0.663	T	0.63834	-0.6547	10	0.42905	T	0.14	.	8.9325	0.35680	0.0:0.0893:0.0:0.9107	.	91	Q96RY7	IF140_HUMAN	L	91	ENSP00000380562:Q91L;ENSP00000406012:Q91L	ENSP00000380562:Q91L	Q	-	2	0	IFT140	1592469	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.722000	0.47269	0.723000	0.32274	0.454000	0.30748	CAG		0.632	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2		NM_014714	
IGF1R	3480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	99192876	99192876	+	Silent	SNP	G	G	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr15:99192876G>A	ENST00000268035.6	+	1	677	c.66G>A	c.(64-66)gcG>gcA	p.A22A	RP11-35O15.1_ENST00000560221.1_RNA|IGF1R_ENST00000558762.1_Silent_p.A22A	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	22					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.A22A(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCTCCGCCGCGCTCTCGCTCT	0.607																																																	1	Substitution - coding silent(1)	kidney(1)											33.0	39.0	37.0					15																	99192876		2197	4297	6494	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.66G>A	15.37:g.99192876G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	CCDS10378.1																																																																																				0.607	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2		NM_000875	
KCNV2	169522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	2729474	2729474	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr9:2729474A>G	ENST00000382082.3	+	2	1623	c.1385A>G	c.(1384-1386)gAc>gGc	p.D462G		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	462					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.D462G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GGCTACGGAGACATGTACCCA	0.512																																																	1	Substitution - Missense(1)	kidney(1)											132.0	107.0	115.0					9																	2729474		2203	4300	6503	SO:0001583	missense	169522			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1385A>G	9.37:g.2729474A>G	ENSP00000371514:p.Asp462Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.813172	0.90707	.	.	ENSG00000168263	ENST00000382082	D	0.98987	-5.3	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99641	0.9868	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97320	0.9943	10	0.87932	D	0	.	15.6629	0.77203	1.0:0.0:0.0:0.0	.	462	Q8TDN2	KCNV2_HUMAN	G	462	ENSP00000371514:D462G	ENSP00000371514:D462G	D	+	2	0	KCNV2	2719474	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.287000	0.95975	2.165000	0.68154	0.533000	0.62120	GAC		0.512	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1		NM_133497	
KIAA1586	57691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56917523	56917523	+	Missense_Mutation	SNP	T	T	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr6:56917523T>A	ENST00000370733.4	+	4	433	c.226T>A	c.(226-228)Ttg>Atg	p.L76M	KIAA1586_ENST00000545356.1_Missense_Mutation_p.L49M|KIAA1586_ENST00000488682.1_3'UTR	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	76							nucleic acid binding (GO:0003676)	p.L76M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GGGTGATTTTTTGCATTTTTT	0.308																																																	1	Substitution - Missense(1)	kidney(1)											46.0	50.0	48.0					6																	56917523		2203	4300	6503	SO:0001583	missense	57691			AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.226T>A	6.37:g.56917523T>A	ENSP00000359768:p.Leu76Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4M3|Q8IW25	Missense_Mutation	SNP	ENST00000370733.4	37	CCDS34480.1	.	.	.	.	.	.	.	.	.	.	t	12.53	1.965420	0.34659	.	.	ENSG00000168116	ENST00000370733;ENST00000545356	T;T	0.37915	1.18;1.17	4.11	2.94	0.34122	.	.	.	.	.	T	0.14013	0.0339	N	0.14661	0.345	0.09310	N	1	P;P	0.52061	0.95;0.95	P;P	0.50708	0.648;0.648	T	0.04203	-1.0969	9	0.62326	D	0.03	.	6.3013	0.21115	0.0:0.1151:0.0:0.8849	.	49;76	F5H2N6;Q9HCI6	.;K1586_HUMAN	M	76;49	ENSP00000359768:L76M;ENSP00000445507:L49M	ENSP00000359768:L76M	L	+	1	2	KIAA1586	57025482	0.005000	0.15991	0.001000	0.08648	0.920000	0.55202	0.335000	0.19806	0.732000	0.32470	-0.456000	0.05471	TTG		0.308	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1		NM_020931	
KIAA2018	205717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	113379615	113379615	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr3:113379615T>C	ENST00000478658.1	-	5	931	c.914A>G	c.(913-915)cAc>cGc	p.H305R	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.H305R			Q68DE3	K2018_HUMAN	KIAA2018	305						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.H305R(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGAGGAGCTGTGGGGGATGTT	0.413																																																	1	Substitution - Missense(1)	kidney(1)											84.0	82.0	82.0					3																	113379615		1915	4127	6042	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.914A>G	3.37:g.113379615T>C	ENSP00000420721:p.His305Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.397760	0.01175	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.12774	2.65;2.65	5.15	2.32	0.28847	.	0.780220	0.11888	N	0.519887	T	0.06554	0.0168	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44112	-0.9349	10	0.16420	T	0.52	7.7567	8.737	0.34534	0.0712:0.0:0.6581:0.2707	.	305	Q68DE3	K2018_HUMAN	R	305	ENSP00000320794:H305R;ENSP00000420721:H305R	ENSP00000320794:H305R	H	-	2	0	KIAA2018	114862305	1.000000	0.71417	0.000000	0.03702	0.016000	0.09150	3.685000	0.54678	0.305000	0.22832	-1.044000	0.02363	CAC		0.413	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1		NM_001009899	
KTI12	112970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	52498994	52498994	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr1:52498994G>A	ENST00000371614.1	-	1	494	c.440C>T	c.(439-441)gCg>gTg	p.A147V	TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	147							ATP binding (GO:0005524)	p.A147V(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						GCTGCTGCCCGCCGCCTGGGC	0.652																																																	1	Substitution - Missense(1)	kidney(1)											43.0	49.0	47.0					1																	52498994		2203	4300	6503	SO:0001583	missense	112970				CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.440C>T	1.37:g.52498994G>A	ENSP00000360676:p.Ala147Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000371614.1	37	CCDS562.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.374287	0.24857	.	.	ENSG00000198841	ENST00000371614	T	0.43294	0.95	4.25	-1.45	0.08828	.	.	.	.	.	T	0.16685	0.0401	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.23084	-1.0198	9	0.17832	T	0.49	.	0.7678	0.01018	0.2971:0.1631:0.3727:0.167	.	147	Q96EK9	KTI12_HUMAN	V	147	ENSP00000360676:A147V	ENSP00000360676:A147V	A	-	2	0	KTI12	52271582	0.003000	0.15002	0.000000	0.03702	0.094000	0.18550	0.224000	0.17738	-0.064000	0.13043	0.655000	0.94253	GCG		0.652	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1		NM_138417	
LRP2	4036	hgsc.bcm.edu	37	2	169989163	169989163	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr2:169989163T>C	ENST00000263816.3	-	77	13934	c.13649A>G	c.(13648-13650)aAg>aGg	p.K4550R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4550					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCCATAATTCTTATTATCCAC	0.388																																																	0													128.0	125.0	126.0					2																	169989163		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13649A>G	2.37:g.169989163T>C	ENSP00000263816:p.Lys4550Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.488046	0.26686	.	.	ENSG00000081479	ENST00000263816	D	0.89552	-2.53	5.94	0.906	0.19314	.	0.881078	0.10466	N	0.671382	T	0.73321	0.3572	N	0.14661	0.345	0.23227	N	0.998088	B	0.06786	0.001	B	0.01281	0.0	T	0.56866	-0.7908	10	0.16420	T	0.52	.	1.283	0.02045	0.2881:0.0867:0.1681:0.4572	.	4550	P98164	LRP2_HUMAN	R	4550	ENSP00000263816:K4550R	ENSP00000263816:K4550R	K	-	2	0	LRP2	169697409	0.889000	0.30405	0.537000	0.28052	0.971000	0.66376	0.703000	0.25646	0.489000	0.27749	-0.344000	0.07964	AAG		0.388	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525	
LRP2	4036	hgsc.bcm.edu;ucsc.edu	37	2	169989165	169989165	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr2:169989165delA	ENST00000263816.3	-	77	13932	c.13647delT	c.(13645-13647)aatfs	p.N4549fs		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4549					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CATAATTCTTATTATCCACAT	0.383																																																	0													128.0	125.0	126.0					2																	169989165		2203	4300	6503	SO:0001589	frameshift_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13647delT	2.37:g.169989165delA	ENSP00000263816:p.Asn4549fs	Somatic		WXS	Illumina HiSeq	Phase_I	O00711|Q16215	Frame_Shift_Del	DEL	ENST00000263816.3	37	CCDS2232.1																																																																																				0.383	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525	
MBTD1	54799	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	49279412	49279412	+	Missense_Mutation	SNP	A	A	T			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr17:49279412A>T	ENST00000586178.1	-	11	1433	c.1090T>A	c.(1090-1092)Ttt>Att	p.F364I	MBTD1_ENST00000376381.2_Missense_Mutation_p.F364I|MBTD1_ENST00000415868.1_Missense_Mutation_p.F364I	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	364					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.F200I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GGTGTATCAAAATGTCCATCC	0.343																																																	1	Substitution - Missense(1)	kidney(1)											95.0	92.0	93.0					17																	49279412		2202	4298	6500	SO:0001583	missense	54799			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1090T>A	17.37:g.49279412A>T	ENSP00000468304:p.Phe364Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	ENST00000586178.1	37	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378578	0.24944	.	.	ENSG00000011258	ENST00000405860;ENST00000415868;ENST00000376381	T;T	0.22743	2.01;1.94	5.93	5.93	0.95920	.	0.399441	0.31542	N	0.007462	T	0.12092	0.0294	N	0.05280	-0.08	0.28410	N	0.918219	B;B;B	0.15473	0.001;0.013;0.003	B;B;B	0.11329	0.003;0.006;0.004	T	0.13953	-1.0490	10	0.22109	T	0.4	.	16.3789	0.83431	1.0:0.0:0.0:0.0	.	364;364;200	Q05BQ5;Q05BQ5-2;Q05BQ5-3	MBTD1_HUMAN;.;.	I	364	ENSP00000403946:F364I;ENSP00000365561:F364I	ENSP00000365561:F364I	F	-	1	0	MBTD1	46634411	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.154000	0.50693	2.267000	0.75376	0.533000	0.62120	TTT		0.343	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1			
MCCC1	56922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	182759471	182759471	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr3:182759471G>C	ENST00000265594.4	-	11	1297	c.1151C>G	c.(1150-1152)gCt>gGt	p.A384G	MCCC1_ENST00000492597.1_Missense_Mutation_p.A275G|MCCC1_ENST00000539926.1_Missense_Mutation_p.A249G	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	384	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.A384G(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ATATATTCTAGCTTCGAAGGC	0.458																																																	1	Substitution - Missense(1)	kidney(1)											158.0	155.0	156.0					3																	182759471		2203	4300	6503	SO:0001583	missense	56922			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1151C>G	3.37:g.182759471G>C	ENSP00000265594:p.Ala384Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765834	0.90020	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.45	5.45	0.79879	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94112	0.8112	H	0.96208	3.785	0.80722	D	1	D;D;D	0.63046	0.992;0.992;0.992	P;P;D	0.67548	0.869;0.805;0.952	D	0.95671	0.8723	10	0.87932	D	0	.	19.2699	0.94004	0.0:0.0:1.0:0.0	.	337;275;384	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	G	384;275;234;249;337;337	ENSP00000265594:A384G;ENSP00000419898:A275G;ENSP00000441253:A249G;ENSP00000420433:A337G	ENSP00000265594:A384G	A	-	2	0	MCCC1	184242165	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	9.319000	0.96338	2.554000	0.86153	0.557000	0.71058	GCT		0.458	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1		NM_020166	
MED13	9969	broad.mit.edu;hgsc.bcm.edu	37	17	60072679	60072679	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr17:60072679A>G	ENST00000397786.2	-	10	2091	c.2015T>C	c.(2014-2016)gTg>gCg	p.V672A		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	672					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.V672A(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATATTGCTGCACTAATTCATC	0.294																																																	1	Substitution - Missense(1)	kidney(1)											152.0	131.0	138.0					17																	60072679		1818	4077	5895	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2015T>C	17.37:g.60072679A>G	ENSP00000380888:p.Val672Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.345899	0.41599	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74842	-0.88	5.3	5.3	0.74995	.	0.187011	0.46145	D	0.000311	T	0.65238	0.2672	L	0.43152	1.355	0.40962	D	0.98463	B	0.20368	0.044	B	0.18561	0.022	T	0.61417	-0.7067	10	0.08599	T	0.76	-1.6837	15.5342	0.75990	1.0:0.0:0.0:0.0	.	672	Q9UHV7	MED13_HUMAN	A	672;671	ENSP00000380888:V672A	ENSP00000262436:V671A	V	-	2	0	MED13	57427461	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	7.987000	0.88182	2.131000	0.65755	0.445000	0.29226	GTG		0.294	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1		NM_005121	
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9066178	9066178	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr19:9066178G>C	ENST00000397910.4	-	3	21471	c.21268C>G	c.(21268-21270)Ctg>Gtg	p.L7090V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7092	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L7090V(2)|p.L2723V(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGATTTTCCAGAGAGGGAGAG	0.498																																																	3	Substitution - Missense(3)	kidney(3)											137.0	138.0	137.0					19																	9066178		2012	4172	6184	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21268C>G	19.37:g.9066178G>C	ENSP00000381008:p.Leu7090Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.084	-0.188435	0.06299	.	.	ENSG00000181143	ENST00000397910	T	0.14893	2.47	2.61	-5.23	0.02798	.	.	.	.	.	T	0.04907	0.0132	N	0.02539	-0.55	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.34079	-0.9843	8	0.87932	D	0	.	1.1595	0.01802	0.3057:0.2505:0.3081:0.1357	.	7090	B5ME49	.	V	7090	ENSP00000381008:L7090V	ENSP00000381008:L7090V	L	-	1	2	MUC16	8927178	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.049000	0.11924	-1.263000	0.02455	-0.534000	0.04291	CTG		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
MUC4	4585	hgsc.bcm.edu	37	3	195508167	195508167	+	Silent	SNP	G	G	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr3:195508167G>A	ENST00000463781.3	-	2	10743	c.10284C>T	c.(10282-10284)acC>acT	p.T3428T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T3428T|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGTGCTGGTGACAGGAA	0.577																																																	0													29.0	23.0	24.0					3																	195508167		687	1581	2268	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10284C>T	3.37:g.195508167G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195508175	195508175	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr3:195508175G>C	ENST00000463781.3	-	2	10735	c.10276C>G	c.(10276-10278)Cct>Gct	p.P3426A	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P3426A|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.P3426S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGGTGACAGGAAGAGGGGTG	0.572																																																	1	Substitution - Missense(1)	endometrium(1)											28.0	22.0	24.0					3																	195508175		688	1578	2266	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10276C>G	3.37:g.195508175G>C	ENSP00000417498:p.Pro3426Ala	Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	3.631	-0.075503	0.07184	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37915	1.17;1.27	0.312	-0.624	0.11552	.	.	.	.	.	T	0.14830	0.0358	N	0.14661	0.345	0.09310	N	1	P	0.36535	0.557	B	0.28232	0.087	T	0.15037	-1.0451	8	.	.	.	.	4.492	0.11819	0.3303:0.0:0.6697:0.0	.	3298	E7ESK3	.	A	3426	ENSP00000417498:P3426A;ENSP00000420243:P3426A	.	P	-	1	0	MUC4	196992954	0.000000	0.05858	0.008000	0.14137	0.032000	0.12392	-0.823000	0.04443	-0.514000	0.06488	0.089000	0.15464	CCT		0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195508178	195508178	+	Missense_Mutation	SNP	G	G	C	rs201253018		TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr3:195508178G>C	ENST00000463781.3	-	2	10732	c.10273C>G	c.(10273-10275)Ctt>Gtt	p.L3425V	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L3425V|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACAGGAAGAGGGGTGGCG	0.582																																																	0													27.0	22.0	23.0					3																	195508178		688	1578	2266	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10273C>G	3.37:g.195508178G>C	ENSP00000417498:p.Leu3425Val	Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	2.398	-0.338295	0.05278	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31247	1.55;1.5	0.312	0.312	0.15837	.	.	.	.	.	T	0.12774	0.0310	N	0.19112	0.55	0.09310	N	1	P	0.39847	0.691	B	0.29785	0.107	T	0.14531	-1.0469	8	.	.	.	.	3.3247	0.07062	1.0E-4:1.0E-4:0.5416:0.4582	.	3297	E7ESK3	.	V	3425	ENSP00000417498:L3425V;ENSP00000420243:L3425V	.	L	-	1	0	MUC4	196992957	0.000000	0.05858	0.011000	0.14972	0.027000	0.11550	-0.838000	0.04372	0.420000	0.25954	0.089000	0.15464	CTT		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195514998	195515045	+	In_Frame_Del	DEL	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	-	rs200518052|rs538504516|rs199975352|rs200763050|rs552771790|rs570974278|rs368837663|rs201206859|rs199883835|rs78683709|rs201451131|rs76196931	byFrequency	TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr3:195514998_195515045delGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	ENST00000463781.3	-	2	3865_3912	c.3406_3453delTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACACCACC	c.(3406-3453)tctcttcctgtcaccgacacttcctcagtatccacaggtcacaccaccdel	p.SLPVTDTSSVSTGHTT1136del	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.SLPVTDTSSVSTGHTT1136del|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	603					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T1142S(3)|p.V1145A(2)|p.P1138L(1)|p.H1149H(1)|p.T1142T(1)|p.T1150A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CATGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGA	0.569																																																	9	Substitution - Missense(7)|Substitution - coding silent(2)	endometrium(4)|stomach(2)|skin(2)|kidney(1)							,,	1034,2304		279,476,914					,,	-1.1	0.0			8	2849,3303		990,869,1217	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	1269,1345,2131	A1A1,A1R,RR		46.3101,30.9766,40.9168	,,	,,		3883,5607				SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3406_3453delTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACACCACC	3.37:g.195514998_195515045delGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	ENSP00000417498:p.Ser1136_Thr1151del	Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.569	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
KAT6B	23522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	76790353	76790353	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr10:76790353C>G	ENST00000287239.4	+	18	6260	c.5771C>G	c.(5770-5772)tCc>tGc	p.S1924C	KAT6B_ENST00000372725.1_Missense_Mutation_p.S1632C|KAT6B_ENST00000372714.1_Missense_Mutation_p.S1632C|KAT6B_ENST00000372711.1_Missense_Mutation_p.S1741C|KAT6B_ENST00000372724.1_Missense_Mutation_p.S1632C	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1924	Interaction with RUNX1 and RUNX2.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S1924C(1)									GGCCACATCTCCATGAGAACC	0.562																																																	1	Substitution - Missense(1)	kidney(1)											96.0	101.0	99.0					10																	76790353		2203	4300	6503	SO:0001583	missense	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.5771C>G	10.37:g.76790353C>G	ENSP00000287239:p.Ser1924Cys	Somatic		WXS	Illumina HiSeq	Phase_I	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841618	0.51057	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	D;D;D;D;D	0.82984	-1.63;-1.63;-1.67;-1.63;-1.66	5.69	5.69	0.88448	.	0.136701	0.33496	N	0.004850	D	0.85557	0.5724	L	0.27053	0.805	0.58432	D	0.999997	P;D;D	0.61697	0.874;0.99;0.981	P;P;P	0.60473	0.789;0.875;0.853	D	0.87132	0.2197	10	0.87932	D	0	-8.0833	19.799	0.96497	0.0:1.0:0.0:0.0	.	1741;1632;1924	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	C	1632;1632;1924;1632;1741	ENSP00000361810:S1632C;ENSP00000361809:S1632C;ENSP00000287239:S1924C;ENSP00000361799:S1632C;ENSP00000361796:S1741C	ENSP00000287239:S1924C	S	+	2	0	KAT6B	76460359	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.487000	0.81328	2.682000	0.91365	0.563000	0.77884	TCC		0.562	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1		NM_012330	
NBAS	51594	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	15564514	15564514	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr2:15564514C>A	ENST00000281513.5	-	23	2527	c.2502G>T	c.(2500-2502)atG>atT	p.M834I	NBAS_ENST00000441750.1_Missense_Mutation_p.M834I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	834					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.M834I(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TAAGCTGGGTCATCCTGAACC	0.483																																																	1	Substitution - Missense(1)	kidney(1)											192.0	150.0	164.0					2																	15564514		2203	4300	6503	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2502G>T	2.37:g.15564514C>A	ENSP00000281513:p.Met834Ile	Somatic		WXS	Illumina HiSeq	Phase_I	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.544|4.544	0.100932|0.100932	0.08731|0.08731	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000441755|ENST00000442506	T;T;T|.	0.21932|.	2.39;2.39;1.98|.	5.37|5.37	-10.7|-10.7	0.00240|0.00240	Secretory pathway Sec39 (1);|.	0.261333|.	0.43260|.	D|.	0.000589|.	T|.	0.12518|.	0.0304|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.11235|.	0.004;0.003|.	B;B|.	0.18561|.	0.009;0.022|.	T|.	0.12372|.	-1.0550|.	10|.	0.87932|.	D|.	0|.	.|.	7.517|7.517	0.27606|0.27606	0.1704:0.2945:0.4507:0.0844|0.1704:0.2945:0.4507:0.0844	.|.	834;834|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	I|L	834;834;1|2	ENSP00000413201:M834I;ENSP00000281513:M834I;ENSP00000396501:M1I|.	ENSP00000281513:M834I|.	M|X	-|-	3|2	0|2	NBAS|NBAS	15481965|15481965	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.206000|0.206000	0.24218|0.24218	-4.216000|-4.216000	0.00272|0.00272	-4.067000|-4.067000	0.00076|0.00076	-1.058000|-1.058000	0.02302|0.02302	ATG|TGA		0.483	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1		NM_015909	
NDUFC1	4717	hgsc.bcm.edu	37	4	140216900	140216900	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr4:140216900C>T	ENST00000544855.1	-	3	882	c.53G>A	c.(52-54)aGg>aAg	p.R18K	NDUFC1_ENST00000265500.4_Missense_Mutation_p.R18K|NDUFC1_ENST00000394228.1_Missense_Mutation_p.R18K|NDUFC1_ENST00000507764.1_5'UTR|NDUFC1_ENST00000539002.1_Missense_Mutation_p.R18K|NDUFC1_ENST00000394223.1_Missense_Mutation_p.R18K|NDUFC1_ENST00000505036.1_Missense_Mutation_p.R18K|NDUFC1_ENST00000539387.1_Missense_Mutation_p.R18K	NM_001184986.1	NP_001171915.1	O43677	NDUC1_HUMAN	NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa	18					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|upper_aerodigestive_tract(1)	2	all_hematologic(180;0.162)					GCTCGGGAGCCTGGCGGGGGC	0.692											OREG0016331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													10.0	11.0	11.0					4																	140216900		2142	4220	6362	SO:0001583	missense	4717			AF047184	CCDS3746.1	4q31.1	2011-07-04	2002-08-29		ENSG00000109390	ENSG00000109390		"""Mitochondrial respiratory chain complex / Complex I"""	7705	protein-coding gene	gene with protein product	"""complex I KFYI subunit"""	603844	"""NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1 (6kD, KFYI)"""			9425316, 9763677	Standard	NM_001184986		Approved	KFYI	uc021xsa.1	O43677	OTTHUMG00000133387	ENST00000544855.1:c.53G>A	4.37:g.140216900C>T	ENSP00000441126:p.Arg18Lys	Somatic	1654	WXS	Illumina HiSeq	Phase_I	A8K532|Q3MIJ9	Missense_Mutation	SNP	ENST00000544855.1	37	CCDS3746.1	.	.	.	.	.	.	.	.	.	.	C	7.476	0.647672	0.14516	.	.	ENSG00000109390	ENST00000394228;ENST00000539387;ENST00000544855;ENST00000539002;ENST00000265500;ENST00000505036;ENST00000394223	.	.	.	4.08	2.36	0.29203	.	0.790281	0.11135	N	0.595952	T	0.16300	0.0392	.	.	.	0.24224	N	0.995429	B	0.06786	0.001	B	0.09377	0.004	T	0.30937	-0.9961	8	0.08179	T	0.78	-6.2088	6.7391	0.23424	0.0:0.7889:0.0:0.2111	.	18	O43677	NDUC1_HUMAN	K	18	.	ENSP00000265500:R18K	R	-	2	0	NDUFC1	140436350	0.333000	0.24731	0.773000	0.31616	0.111000	0.19643	0.609000	0.24238	0.683000	0.31428	-1.056000	0.02311	AGG		0.692	NDUFC1-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257237.1		NM_002494	
NEBL	10529	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	21158725	21158725	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr10:21158725C>G	ENST00000377122.4	-	6	922	c.526G>C	c.(526-528)Gaa>Caa	p.E176Q	NEBL_ENST00000377119.1_Missense_Mutation_p.E176Q|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	176					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.E176Q(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGGTCAAGTTCTGCACTGTAC	0.368																																																	1	Substitution - Missense(1)	kidney(1)											222.0	183.0	196.0					10																	21158725		2203	4300	6503	SO:0001583	missense	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.526G>C	10.37:g.21158725C>G	ENSP00000366326:p.Glu176Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	8.543	0.873709	0.17322	.	.	ENSG00000078114	ENST00000377122;ENST00000377119	T;T	0.16897	3.55;2.31	5.97	5.07	0.68467	.	0.432128	0.25006	N	0.033874	T	0.13457	0.0326	N	0.22421	0.69	0.80722	D	1	B	0.23316	0.083	B	0.23716	0.048	T	0.07424	-1.0773	10	0.26408	T	0.33	.	15.3074	0.74004	0.0:0.9331:0.0:0.0669	.	176	O76041	NEBL_HUMAN	Q	176	ENSP00000366326:E176Q;ENSP00000366323:E176Q	ENSP00000366323:E176Q	E	-	1	0	NEBL	21198731	0.983000	0.35010	0.087000	0.20705	0.113000	0.19764	4.085000	0.57657	1.534000	0.49203	0.655000	0.94253	GAA		0.368	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1		NM_006393	
OGG1	4968	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	9792671	9792671	+	Silent	SNP	G	G	C	rs368830432		TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr3:9792671G>C	ENST00000344629.7	+	2	523	c.180G>C	c.(178-180)gcG>gcC	p.A60A	OGG1_ENST00000302008.8_Silent_p.A60A|OGG1_ENST00000302003.7_Silent_p.A60A|OGG1_ENST00000302036.7_Silent_p.A60A|OGG1_ENST00000449570.2_Silent_p.A60A|OGG1_ENST00000383826.5_Silent_p.A60A|OGG1_ENST00000339511.5_Silent_p.A60A|OGG1_ENST00000436092.1_3'UTR|OGG1_ENST00000349503.5_Silent_p.A60A			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	60					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)	p.A60A(4)		kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					GTGTACTAGCGGATCAAGTAT	0.567								Base excision repair (BER), DNA glycosylases																																									4	Substitution - coding silent(4)	kidney(4)											112.0	86.0	95.0					3																	9792671		2203	4300	6503	SO:0001819	synonymous_variant	4968			U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.180G>C	3.37:g.9792671G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Silent	SNP	ENST00000344629.7	37	CCDS2581.1																																																																																				0.567	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2		NM_016821	
PDIA6	10130	broad.mit.edu;ucsc.edu	37	2	10924426	10924426	+	Silent	SNP	G	G	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr2:10924426G>A	ENST00000272227.3	-	13	1428	c.1281C>T	c.(1279-1281)ctC>ctT	p.L427L	ATP6V1C2_ENST00000381661.3_3'UTR|PDIA6_ENST00000540494.1_Silent_p.L424L|PDIA6_ENST00000404371.2_Silent_p.L479L|PDIA6_ENST00000404824.2_Silent_p.L475L|PDIA6_ENST00000381611.4_Silent_p.L432L	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	427	Asp/Glu-rich (acidic).				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)	p.L427L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CCACATCACTGAGGTCAATGT	0.483																																					GBM(73;509 1219 34219 41343 41551)												1	Substitution - coding silent(1)	kidney(1)											111.0	99.0	103.0					2																	10924426		2203	4300	6503	SO:0001819	synonymous_variant	10130			BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.1281C>T	2.37:g.10924426G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Silent	SNP	ENST00000272227.3	37	CCDS1675.1																																																																																				0.483	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1		NM_005742	
PKP4	8502	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	159526361	159526361	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr2:159526361C>A	ENST00000389759.3	+	17	2970	c.2858C>A	c.(2857-2859)gCa>gAa	p.A953E	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.A953E	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	953					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.A953E(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ATGGAGAACGCAAAAGCCCTG	0.592										HNSCC(62;0.18)																																							1	Substitution - Missense(1)	kidney(1)											48.0	48.0	48.0					2																	159526361		2203	4300	6503	SO:0001583	missense	8502			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2858C>A	2.37:g.159526361C>A	ENSP00000374409:p.Ala953Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	36	5.792567	0.96945	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.52295	0.67;0.67	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74772	0.3760	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.91635	0.993;0.999;0.908	T	0.76748	-0.2845	10	0.87932	D	0	-12.3595	20.6244	0.99512	0.0:1.0:0.0:0.0	.	908;953;953	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	E	953	ENSP00000374407:A953E;ENSP00000374409:A953E	ENSP00000374407:A953E	A	+	2	0	PKP4	159234607	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.731000	0.84895	2.879000	0.98667	0.650000	0.86243	GCA		0.592	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			
PLA2G4F	255189	hgsc.bcm.edu;ucsc.edu	37	15	42437860	42437861	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr15:42437860_42437861insA	ENST00000382396.4	-	16	1778_1779	c.1692_1693insT	c.(1690-1695)tttgccfs	p.A565fs	PLA2G4F_ENST00000397272.3_Frame_Shift_Ins_p.A567fs			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	565	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGGCTGGTGGCAAAGGCGCTGC	0.644																																																	0																																										SO:0001589	frameshift_variant	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1693dupT	15.37:g.42437863_42437863dupA	ENSP00000371833:p.Ala565fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZMC8	Frame_Shift_Ins	INS	ENST00000382396.4	37	CCDS32204.1																																																																																				0.644	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1		NM_213600	
PLEKHA2	59339	hgsc.bcm.edu;ucsc.edu	37	8	38775478	38775479	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr8:38775478_38775479delTG	ENST00000521746.1	+	2	265_266	c.31_32delTG	c.(31-33)tgtfs	p.C11fs	PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000420274.1_Frame_Shift_Del_p.C11fs			Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	11	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			GAACCGAATCTGTGGGTTTCTG	0.55																																																	0																																										SO:0001589	frameshift_variant	59339			AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"""Pleckstrin homology (PH) domain containing"""	14336	protein-coding gene	gene with protein product	"""tandem PH Domain containing protein-2"""	607773	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"""			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000521746.1:c.31_32delTG	8.37:g.38775480_38775481delTG	ENSP00000430938:p.Cys11fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000521746.1	37																																																																																					0.550	PLEKHA2-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000377068.1		NM_021623	
PPP2R2B	5521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	146070789	146070789	+	Missense_Mutation	SNP	G	G	T	rs369226679		TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr5:146070789G>T	ENST00000394413.3	-	4	919	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	PPP2R2B_ENST00000394409.3_Missense_Mutation_p.L175M|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.L117M|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.L106M|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.L183M|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.L117M|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.L123M|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.L120M|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.L117M|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.L106M			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	117					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.L120M(1)|p.L117M(1)|p.L106M(1)|p.L175M(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTTTCCACAGCTTCACAGTT	0.512																																																	4	Substitution - Missense(4)	kidney(4)											78.0	84.0	82.0					5																	146070789		2203	4300	6503	SO:0001583	missense	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.349C>A	5.37:g.146070789G>T	ENSP00000377935:p.Leu117Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254691	0.80135	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.85	4.09	0.47781	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67887	0.2941	M	0.93854	3.465	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.996;0.994;0.994;0.996;0.998;0.994	T	0.75360	-0.3345	10	0.87932	D	0	-8.9761	12.4265	0.55551	0.1349:0.0:0.8651:0.0	.	175;123;106;183;120;117	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	M	117;106;183;117;117;117;106;120;123;175	ENSP00000377935:L117M;ENSP00000431320:L106M;ENSP00000377936:L183M;ENSP00000377933:L117M;ENSP00000349283:L117M;ENSP00000398779:L117M;ENSP00000377932:L106M;ENSP00000336591:L120M;ENSP00000421396:L123M;ENSP00000377931:L175M	ENSP00000336591:L120M	L	-	1	2	AC011357.1	146050982	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.273000	0.51623	0.833000	0.34828	0.655000	0.94253	CTG		0.512	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2		NM_181678	
PXDN	7837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1652347	1652347	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr2:1652347C>T	ENST00000252804.4	-	17	3255	c.3205G>A	c.(3205-3207)Gcc>Acc	p.A1069T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1069					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.A1069T(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AACCTGAAGGCCGCGGTGGCG	0.597																																																	1	Substitution - Missense(1)	kidney(1)											54.0	66.0	62.0					2																	1652347		2189	4280	6469	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3205G>A	2.37:g.1652347C>T	ENSP00000252804:p.Ala1069Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735063	0.69189	.	.	ENSG00000130508	ENST00000252804	T	0.79845	-1.31	5.72	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.92254	0.7543	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94299	0.7535	10	0.87932	D	0	-37.893	16.2512	0.82489	0.1337:0.8663:0.0:0.0	.	1069	Q92626	PXDN_HUMAN	T	1069	ENSP00000252804:A1069T	ENSP00000252804:A1069T	A	-	1	0	PXDN	1631354	1.000000	0.71417	0.953000	0.39169	0.341000	0.28922	5.896000	0.69822	1.411000	0.46957	0.650000	0.86243	GCC		0.597	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1		XM_056455	
RDX	5962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	110124794	110124794	+	Missense_Mutation	SNP	C	C	T	rs150863373		TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr11:110124794C>T	ENST00000343115.4	-	9	1155	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	RDX_ENST00000528498.1_Missense_Mutation_p.R279Q|RDX_ENST00000544551.1_Missense_Mutation_p.R143Q|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.R279Q	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	279	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)	p.R279Q(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GGCCAAAATCCGCTTATTGAT	0.383																																					Esophageal Squamous(55;25 1062 11040 28755 44273)												1	Substitution - Missense(1)	kidney(1)						C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	102.0	90.0	94.0		836	5.7	1.0	11	dbSNP_134	94	0,8596		0,0,4298	yes	missense	RDX	NM_002906.3	43	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	279/584	110124794	1,12997	2201	4298	6499	SO:0001583	missense	5962			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.836G>A	11.37:g.110124794C>T	ENSP00000342830:p.Arg279Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014321	0.93404	2.27E-4	0.0	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.72	5.72	0.89469	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.89787	0.6816	M	0.81239	2.535	0.80722	D	1	D;D;P	0.69078	0.967;0.997;0.6	B;P;B	0.55112	0.438;0.769;0.194	D	0.89757	0.3944	10	0.51188	T	0.08	.	19.8831	0.96905	0.0:1.0:0.0:0.0	.	143;279;279	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	Q	279;279;279;279;143	ENSP00000432112:R279Q;ENSP00000384136:R279Q;ENSP00000342830:R279Q;ENSP00000445826:R143Q	ENSP00000342830:R279Q	R	-	2	0	RDX	109630004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.765000	0.85310	2.705000	0.92388	0.655000	0.94253	CGG		0.383	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2		NM_002906	
RTN1	6252	broad.mit.edu;ucsc.edu	37	14	60212848	60212848	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr14:60212848T>C	ENST00000267484.5	-	2	928	c.593A>G	c.(592-594)gAc>gGc	p.D198G		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	198					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.D198G(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCTGGTTATGTCAATGTATTT	0.448																																																	1	Substitution - Missense(1)	kidney(1)											230.0	225.0	227.0					14																	60212848		2203	4300	6503	SO:0001583	missense	6252			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.593A>G	14.37:g.60212848T>C	ENSP00000267484:p.Asp198Gly	Somatic		WXS	Illumina GAIIx	Phase_I	Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.042940	0.75732	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.39229	1.09	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.66557	0.2801	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71111	-0.4687	10	0.87932	D	0	.	15.9506	0.79830	0.0:0.0:0.0:1.0	.	198	Q16799	RTN1_HUMAN	G	198;124	ENSP00000267484:D198G	ENSP00000267484:D198G	D	-	2	0	RTN1	59282601	1.000000	0.71417	0.992000	0.48379	0.839000	0.47603	5.887000	0.69751	2.171000	0.68590	0.455000	0.32223	GAC		0.448	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			
SLC5A3	6526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	35467806	35467806	+	Silent	SNP	G	G	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr21:35467806G>C	ENST00000381151.3	+	2	821	c.309G>C	c.(307-309)cgG>cgC	p.R103R	MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Silent_p.R103R|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	103					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)	p.R103R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TTTACATCCGGTCAGGGGTAT	0.448																																																	1	Substitution - coding silent(1)	kidney(1)											178.0	175.0	176.0					21																	35467806		2203	4300	6503	SO:0001819	synonymous_variant	6526				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.309G>C	21.37:g.35467806G>C		Somatic		WXS	Illumina HiSeq	Phase_I	O43489	Silent	SNP	ENST00000381151.3	37	CCDS33549.1																																																																																				0.448	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			
SLIT2	9353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	20543097	20543097	+	Silent	SNP	T	T	C			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr4:20543097T>C	ENST00000504154.1	+	20	2250	c.1998T>C	c.(1996-1998)ttT>ttC	p.F666F	SLIT2_ENST00000503837.1_Silent_p.F662F|SLIT2_ENST00000503823.1_Silent_p.F658F|SLIT2_ENST00000273739.5_Silent_p.F670F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	666	LRRCT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.F666F(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCAATCCTTTTAACTGTAACT	0.453																																																	1	Substitution - coding silent(1)	kidney(1)											102.0	91.0	95.0					4																	20543097		2203	4300	6503	SO:0001819	synonymous_variant	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1998T>C	4.37:g.20543097T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	CCDS3426.1																																																																																				0.453	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			
TM6SF1	53346	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	83805287	83805287	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr15:83805287A>G	ENST00000322019.9	+	10	1250	c.976A>G	c.(976-978)Aga>Gga	p.R326G	TM6SF1_ENST00000379386.4_Missense_Mutation_p.R329G|TM6SF1_ENST00000379390.6_3'UTR|TM6SF1_ENST00000565774.1_Missense_Mutation_p.R295G			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	326						integral component of membrane (GO:0016021)		p.R326G(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TTATGTCTACAGAGTCCCTGA	0.373																																																	1	Substitution - Missense(1)	kidney(1)											99.0	96.0	97.0					15																	83805287		2203	4300	6503	SO:0001583	missense	53346			AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.976A>G	15.37:g.83805287A>G	ENSP00000317000:p.Arg326Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7T5|H3BU56|Q4U0U5	Missense_Mutation	SNP	ENST00000322019.9	37	CCDS10323.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.901043	0.72754	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384	T;T	0.33438	1.41;1.42	5.49	2.97	0.34412	.	0.000000	0.85682	D	0.000000	T	0.53012	0.1770	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	T	0.57347	-0.7827	10	0.87932	D	0	-14.8547	11.9062	0.52713	0.7247:0.2753:0.0:0.0	.	295;326	E9PD04;Q9BZW5	.;TM6S1_HUMAN	G	326;329;295	ENSP00000317000:R326G;ENSP00000368696:R329G	ENSP00000317000:R326G	R	+	1	2	TM6SF1	81596291	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.097000	0.50251	0.886000	0.36113	0.482000	0.46254	AGA		0.373	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1		NM_023003	
CENPT	80152	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67859889	67859890	+	IGR	DNP	AG	AG	TA			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr16:67859889_67859890AG>TA	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.S298Y|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.S352Y|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.S283Y	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S298N(1)|p.S298C(1)		NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCTGCACATGAGCACGCTGAAG	0.614																																																	2	Substitution - Missense(2)	kidney(2)																																								SO:0001628	intergenic_variant	55815			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1684_1684delinsTA	16.37:g.67859889_67859890delinsTA		Somatic		WXS	Illumina HiSeq	Phase_I	Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	CCDS42182.1																																																																																				0.614	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1		NM_025082	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188287	10188287	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr3:10188287delG	ENST00000256474.2	+	2	1270	c.430delG	c.(430-432)ggafs	p.G144fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	144	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G144*(3)|p.G144R(1)|p.Q145fs*30(1)|p.G144fs*29(1)|p.G144fs*14(1)|p.D143fs*29(1)|p.N141fs*30(1)|p.S139fs*12(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CAATGTTGACGGACAGCCTAT	0.423		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	11	Deletion - Frameshift(6)|Substitution - Nonsense(3)|Insertion - Frameshift(1)|Substitution - Missense(1)	kidney(10)|endometrium(1)	GRCh37	CM982008	VHL	M							217.0	200.0	206.0					3																	10188287		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.430delG	3.37:g.10188287delG	ENSP00000256474:p.Gly144fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.423	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZNF433	163059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	12125862	12125862	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr19:12125862A>G	ENST00000344980.6	-	4	1990	c.1820T>C	c.(1819-1821)aTg>aCg	p.M607T	CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.M572T	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	607					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.M607T(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						CCTTCCATGCATTTGAAGTCG	0.473																																																	1	Substitution - Missense(1)	kidney(1)											98.0	102.0	101.0					19																	12125862		2201	4299	6500	SO:0001583	missense	163059			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1820T>C	19.37:g.12125862A>G	ENSP00000339767:p.Met607Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	37	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	A	2.434	-0.330140	0.05314	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.17213	2.29;2.29	1.22	-2.45	0.06481	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07548	0.0190	N	0.16602	0.42	0.09310	N	1	B	0.30889	0.299	B	0.33196	0.159	T	0.32079	-0.9920	9	0.13108	T	0.6	.	2.4048	0.04410	0.2308:0.4915:0.1409:0.1369	.	607	Q8N7K0	ZN433_HUMAN	T	572;607	ENSP00000393416:M572T;ENSP00000339767:M607T	ENSP00000339767:M607T	M	-	2	0	ZNF433	11986862	0.000000	0.05858	0.000000	0.03702	0.804000	0.45430	-4.656000	0.00202	-2.344000	0.00622	0.254000	0.18369	ATG		0.473	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1		NM_152602	
ZNF99	7652	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	22952718	22952718	+	Intron	SNP	C	C	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr19:22952718C>A	ENST00000596209.1	-	2	94				ZNF99_ENST00000397104.3_Splice_Site	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						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.?(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATAACATGTACATTTTTGAGT	0.313																																																	1	Unknown(1)	kidney(1)											64.0	64.0	64.0					19																	22952718		1835	4079	5914	SO:0001627	intron_variant	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.4-592G>T	19.37:g.22952718C>A		Somatic		WXS	Illumina HiSeq	Phase_I	M0R335	Splice_Site	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	.	0.143	-1.100088	0.01843	.	.	ENSG00000213973	ENST00000397104	.	.	.	0.559	-0.705	0.11252	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF99	22744558	0.003000	0.15002	0.010000	0.14722	0.036000	0.12997	-1.901000	0.01597	-0.262000	0.09392	0.423000	0.28283	.		0.313	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1		XM_065124	
SIMC1	375484	broad.mit.edu	37	5	175717637	175717637	+	Silent	SNP	G	G	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr5:175717637G>A	ENST00000443967.1	+	4	1460	c.1053G>A	c.(1051-1053)agG>agA	p.R351R	SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Silent_p.R370R|SIMC1_ENST00000430704.2_Intron			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	351	Pro-rich.						SUMO polymer binding (GO:0032184)	p.R351R(1)									CAGGAGACAGGCCTGACTTTA	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											314.0	304.0	307.0					5																	175717637		2203	4300	6503	SO:0001819	synonymous_variant	0			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1053G>A	5.37:g.175717637G>A		Somatic		WXS	Illumina GAIIx	Phase_I	J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Silent	SNP	ENST00000443967.1	37																																																																																					0.517	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2		NM_198567	
FAM182A	284800	broad.mit.edu	37	20	26063752	26063752	+	RNA	SNP	T	T	G	rs78544920		TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr20:26063752T>G	ENST00000376398.2	+	0	1269					NR_026713.1		Q5T1J6	F182A_HUMAN	family with sequence similarity 182, member A											breast(1)|endometrium(2)|kidney(1)	4						CACCTGGGGATTGGGTATCCA	0.537																																																	0																																												284800			AL391119		20p11	2013-03-18	2008-08-05	2008-08-05	ENSG00000125804	ENSG00000125804			16222	other	unknown			"""chromosome 20 open reading frame 91"""	C20orf91			Standard	NR_026713		Approved	bB329D4.1, C20orf91A	uc010gdq.3	Q5T1J6	OTTHUMG00000032144		20.37:g.26063752T>G		Somatic		WXS	Illumina GAIIx	Phase_I	A2RRD0|Q8N947	RNA	SNP	ENST00000376398.2	37																																																																																					0.537	FAM182A-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000078473.2			
KRTAP10-6	386674	broad.mit.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs374776064|rs587611810|rs71199613	byFrequency	TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	ENST00000400368.1	-	1	166_167	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)ccg>ccCAGCTGCTGCGCCCCg	p.49_49P>PSCCAP	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	49	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688														1042	0.208067	0.1188	0.2522	5008	,	,		15055	0.1379		0.3231	False		,,,				2504	0.2515																0																																										SO:0001652	inframe_insertion	386674			AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.146_147insCAGCTGCTGCGCCCC	21.37:g.46012219_46012220insGGGGCGCAGCAGCTG	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_I		In_Frame_Ins	INS	ENST00000400368.1	37	CCDS42959.1																																																																																				0.688	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1		NM_198688	
Unknown	0	broad.mit.edu	37	6	43858933	43858934	+	IGR	INS	-	-	TC	rs57861416|rs397783922|rs77608736	byFrequency	TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr6:43858933_43858934insTC								RP11-344J7.2 (38863 upstream) : RP5-1120P11.1 (104525 downstream)																							CCTTTTCTGCTTCTCTGCTCCT	0.515														3908	0.780351	0.9508	0.7032	5008	,	,		15817	0.8194		0.5189	False		,,,				2504	0.8333																0																																										SO:0001628	intergenic_variant	100132354																															6.37:g.43858936_43858937dupTC		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	INS		37																																																																																				0	0.515									
Unknown	0	broad.mit.edu	37	11	50379673	50379673	+	IGR	SNP	C	C	T	rs117065335	byFrequency	TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr11:50379673C>T								RP11-574M7.1 (58796 upstream) : AC110283.1 (884335 downstream)																							ATATGTACAACGGAGAGCTGT	0.348													c|||	31	0.0061901	0.0	0.0	5008	,	,		18102	0.0288		0.0	False		,,,				2504	0.002																0																																										SO:0001628	intergenic_variant	646813																															11.37:g.50379673C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.348									
RBM47	54502	broad.mit.edu	37	4	40440590	40440590	+	Silent	SNP	G	G	A			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr4:40440590G>A	ENST00000381793.2	-	3	717	c.321C>T	c.(319-321)gaC>gaT	p.D107D	RBM47_ENST00000381795.6_Silent_p.D107D|RBM47_ENST00000319592.4_Silent_p.D107D|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.D69D|RBM47_ENST00000295971.7_Silent_p.D107D			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	107	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D107D(3)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGTTCTTGCCGTCAAAGTCCA	0.647																																																	3	Substitution - coding silent(3)	kidney(3)											73.0	65.0	68.0					4																	40440590		2203	4300	6503	SO:0001819	synonymous_variant	54502			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.321C>T	4.37:g.40440590G>A		Somatic		WXS	Illumina GAIIx	Phase_I	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	CCDS43223.1																																																																																				0.647	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2		NM_019027	
LINC00824	101927774	broad.mit.edu	37	8	129418744	129418744	+	RNA	DEL	T	T	-			TCGA-B2-5635-01A-01D-1534-10	TCGA-B2-5635-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0fcca3b-00cb-44d0-ae4b-1cc7f6535759	26808e90-5813-4283-a5e4-7bc55b3141e2	g.chr8:129418744delT	ENST00000520206.1	-	0	825																											tgtgtgtccatttttttttat	0.408																																																	0																																												0																															8.37:g.129418744delT		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000520206.1	37																																																																																					0.408	RP11-89M16.1-005	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000381572.1			
