#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AADACL4	343066	broad.mit.edu	37	1	12726742	12726742	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:12726742T>C	ENST00000376221.1	+	4	1220	c.1220T>C	c.(1219-1221)aTa>aCa	p.I407T		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	407						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.I407T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		ATAAAGGGCATATGATAGTAA	0.438																																																	1	Substitution - Missense(1)	kidney(1)											53.0	58.0	56.0					1																	12726742		2116	4262	6378	SO:0001583	missense	343066				CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1220T>C	1.37:g.12726742T>C	ENSP00000365395:p.Ile407Thr			Missense_Mutation	SNP	ENST00000376221.1	37	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.284718	0.40394	.	.	ENSG00000204518	ENST00000376221	T	0.05199	3.48	4.53	3.37	0.38596	.	0.540943	0.17579	N	0.169198	T	0.11196	0.0273	L	0.57536	1.79	0.09310	N	1	P	0.47409	0.895	P	0.48488	0.579	T	0.08207	-1.0733	10	0.72032	D	0.01	-6.294	8.2541	0.31743	0.0:0.092:0.0:0.908	.	407	Q5VUY2	ADCL4_HUMAN	T	407	ENSP00000365395:I407T	ENSP00000365395:I407T	I	+	2	0	AADACL4	12649329	0.011000	0.17503	0.001000	0.08648	0.007000	0.05969	2.024000	0.41049	0.732000	0.32470	0.533000	0.62120	ATA		0.438	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1		NM_001013630	
ABCB5	340273	hgsc.bcm.edu;ucsc.edu	37	7	20685684	20685684	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr7:20685684delT	ENST00000404938.2	+	9	1556	c.904delT	c.(904-906)tatfs	p.Y302fs	ABCB5_ENST00000258738.6_5'Flank|ABCB5_ENST00000443026.2_5'Flank|ABCB5_ENST00000406935.1_5'Flank	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	302	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAATGGAACCTATGGACTTGC	0.393																																																	0													129.0	115.0	119.0					7																	20685684		1568	3582	5150	SO:0001589	frameshift_variant	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.904delT	7.37:g.20685684delT	ENSP00000384881:p.Tyr302fs		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Frame_Shift_Del	DEL	ENST00000404938.2	37	CCDS55090.1																																																																																				0.393	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2		NM_178559	
ABCB5	340273	hgsc.bcm.edu	37	7	20685686	20685686	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr7:20685686T>A	ENST00000404938.2	+	9	1558	c.906T>A	c.(904-906)taT>taA	p.Y302*	ABCB5_ENST00000258738.6_5'Flank|ABCB5_ENST00000443026.2_5'Flank|ABCB5_ENST00000406935.1_5'Flank	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	302	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATGGAACCTATGGACTTGCTT	0.393																																																	0													129.0	115.0	120.0					7																	20685686		1568	3582	5150	SO:0001587	stop_gained	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.906T>A	7.37:g.20685686T>A	ENSP00000384881:p.Tyr302*		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Nonsense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	T	42	9.616280	0.99220	.	.	ENSG00000004846	ENST00000404938	.	.	.	4.79	-5.28	0.02755	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3713	0.60715	0.0:0.5567:0.0:0.4433	.	.	.	.	X	302	.	ENSP00000384881:Y302X	Y	+	3	2	ABCB5	20652211	0.286000	0.24305	0.925000	0.36789	0.928000	0.56348	-0.607000	0.05648	-1.011000	0.03391	-0.982000	0.02568	TAT		0.393	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2		NM_178559	
ACSL6	23305	hgsc.bcm.edu;ucsc.edu	37	5	131321125	131321125	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr5:131321125delA	ENST00000379240.1	-	9	969	c.816delT	c.(814-816)attfs	p.I272fs	ACSL6_ENST00000431707.1_Frame_Shift_Del_p.I252fs|ACSL6_ENST00000379264.2_Frame_Shift_Del_p.I297fs|ACSL6_ENST00000379246.1_Frame_Shift_Del_p.I283fs|ACSL6_ENST00000379244.1_Frame_Shift_Del_p.I272fs|ACSL6_ENST00000357096.1_Frame_Shift_Del_p.I237fs|ACSL6_ENST00000296869.4_Frame_Shift_Del_p.I297fs|ACSL6_ENST00000543479.1_Frame_Shift_Del_p.I272fs|ACSL6_ENST00000379272.2_Frame_Shift_Del_p.I287fs|ACSL6_ENST00000379255.1_Frame_Shift_Del_p.I237fs|ACSL6_ENST00000544770.1_Frame_Shift_Del_p.I181fs|ACSL6_ENST00000379249.3_Frame_Shift_Del_p.I272fs			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	272					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAAACACACAATGGAGAGGT	0.627																																																	0													124.0	98.0	106.0					5																	131321125		2203	4300	6503	SO:0001589	frameshift_variant	23305			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.816delT	5.37:g.131321125delA	ENSP00000368542:p.Ile272fs		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Frame_Shift_Del	DEL	ENST00000379240.1	37																																																																																					0.627	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1		NM_015256	
ACTR6	64431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	100617614	100617614	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr12:100617614A>G	ENST00000188312.2	+	11	1877	c.1112A>G	c.(1111-1113)gAt>gGt	p.D371G	ACTR6_ENST00000552376.1_Missense_Mutation_p.D351G|ACTR6_ENST00000551617.1_Missense_Mutation_p.D269G|ACTR6_ENST00000546902.1_Missense_Mutation_p.D289G	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	371						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.D371G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						GAGAATGATGATTTTGAAGAT	0.328																																																	1	Substitution - Missense(1)	kidney(1)											121.0	126.0	124.0					12																	100617614		2203	4300	6503	SO:0001583	missense	64431			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.1112A>G	12.37:g.100617614A>G	ENSP00000188312:p.Asp371Gly		B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	ENST00000188312.2	37	CCDS9074.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669377	0.47677	.	.	ENSG00000075089	ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;T;T	0.94497	-3.44;-3.44;3.14;3.14	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.91161	0.7216	L	0.37561	1.115	0.80722	D	1	B;B;B	0.13145	0.007;0.005;0.007	B;B;B	0.15052	0.006;0.007;0.012	D	0.87133	0.2198	10	0.29301	T	0.29	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	269;351;371	F8VSD1;F8W057;Q9GZN1	.;.;ARP6_HUMAN	G	371;289;351;269	ENSP00000188312:D371G;ENSP00000448669:D289G;ENSP00000447237:D351G;ENSP00000448356:D269G	ENSP00000188312:D371G	D	+	2	0	ACTR6	99141745	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.759000	0.91667	2.279000	0.76181	0.533000	0.62120	GAT		0.328	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1		NM_022496	
ADAMTS7	11173	broad.mit.edu;hgsc.bcm.edu	37	15	79059785	79059785	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr15:79059785G>A	ENST00000388820.4	-	18	3005	c.2795C>T	c.(2794-2796)aCt>aTt	p.T932I	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	932	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T932I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGGGGTTTCAGTAGGGGGCCG	0.692																																																	1	Substitution - Missense(1)	kidney(1)											32.0	38.0	36.0					15																	79059785		2195	4292	6487	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2795C>T	15.37:g.79059785G>A	ENSP00000373472:p.Thr932Ile		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636240	0.29068	.	.	ENSG00000136378	ENST00000388820	T	0.61040	0.14	4.24	4.24	0.50183	.	0.473309	0.22155	N	0.063863	T	0.54951	0.1890	L	0.52823	1.66	0.09310	N	0.999998	B	0.18013	0.025	B	0.20184	0.028	T	0.55554	-0.8123	10	0.66056	D	0.02	.	15.5498	0.76141	0.0:0.0:1.0:0.0	.	932	Q9UKP4	ATS7_HUMAN	I	932	ENSP00000373472:T932I	ENSP00000373472:T932I	T	-	2	0	ADAMTS7	76846840	0.925000	0.31364	0.004000	0.12327	0.150000	0.21749	5.133000	0.64764	2.045000	0.60652	0.478000	0.44815	ACT		0.692	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1		NM_014272	
ALKBH6	84964	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36504305	36504305	+	De_novo_Start_InFrame	SNP	C	C	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr19:36504305C>T	ENST00000252984.7	-	0	147				AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000378875.3_Missense_Mutation_p.V27M|ALKBH6_ENST00000495116.2_Intron|AC002116.7_ENST00000586962.1_RNA|ALKBH6_ENST00000485128.1_De_novo_Start_InFrame|ALKBH6_ENST00000486389.1_De_novo_Start_InFrame			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)							cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.V27M(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCATCAACACCAACTCCTTG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											161.0	129.0	140.0					19																	36504305		2203	4300	6503			84964			BM713594	CCDS12485.2, CCDS74342.1	19q13.12	2008-02-05			ENSG00000239382	ENSG00000239382		"""Alkylation repair homologs"""	28243	protein-coding gene	gene with protein product		613304				8889548	Standard	NM_032878		Approved	MGC15677	uc002ocv.1	Q3KRA9	OTTHUMG00000048137		19.37:g.36504305C>T			A5LGM8|A6NLP1|A8MU96	Missense_Mutation	SNP	ENST00000252984.7	37		.	.	.	.	.	.	.	.	.	.	C	14.80	2.642946	0.47153	.	.	ENSG00000239382	ENST00000378875	.	.	.	3.52	-6.38	0.01957	.	.	.	.	.	T	0.22859	0.0552	N	0.22421	0.69	0.28552	N	0.911562	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.22417	-1.0217	8	0.48119	T	0.1	.	6.5286	0.22314	0.0:0.3188:0.4247:0.2565	.	20;27	B4E3P3;Q3KRA9-2	.;.	M	27	.	ENSP00000368152:V27M	V	-	1	0	ALKBH6	41196145	0.007000	0.16637	0.008000	0.14137	0.682000	0.39822	-0.532000	0.06164	-1.046000	0.03246	0.585000	0.79938	GTG		0.587	ALKBH6-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000109531.4		NM_032878	
AMACR	23600	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	33989521	33989521	+	Missense_Mutation	SNP	C	C	T	rs200687238		TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr5:33989521C>T	ENST00000335606.6	-	5	914	c.826G>A	c.(826-828)Gca>Aca	p.A276T	AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.A276T|AMACR_ENST00000514195.1_5'UTR|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.A261T	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	276					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)	p.A276T(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GTCTTCTCTGCAAATACATCT	0.438																																																	1	Substitution - Missense(1)	kidney(1)											78.0	74.0	75.0					5																	33989521		2203	4300	6503	SO:0001583	missense	23600			AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.826G>A	5.37:g.33989521C>T	ENSP00000334424:p.Ala276Thr		A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.755064	0.49362	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.56275	0.47;0.47;0.47	5.7	4.77	0.60923	CoA-transferase family III domain (2);	0.102151	0.64402	D	0.000002	T	0.59266	0.2181	M	0.89601	3.045	0.80722	D	1	P;P;B	0.37548	0.534;0.599;0.399	B;B;B	0.38842	0.283;0.197;0.104	T	0.62497	-0.6842	10	0.36615	T	0.2	-21.0528	10.4745	0.44657	0.2329:0.6437:0.1234:0.0	.	276;261;276	F8W9N1;D6RB81;Q9UHK6	.;.;AMACR_HUMAN	T	276;276;261	ENSP00000334424:A276T;ENSP00000371517:A276T;ENSP00000424351:A261T	ENSP00000334424:A276T	A	-	1	0	AMACR	34025278	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.264000	0.43302	2.848000	0.98002	0.637000	0.83480	GCA		0.438	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1		NM_014324	
ANKS3	124401	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4776983	4776983	+	Silent	SNP	G	G	C			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr16:4776983G>C	ENST00000304283.4	-	4	660	c.366C>G	c.(364-366)ctC>ctG	p.L122L	ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000585773.1_Silent_p.L49L|ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000592711.1_Intron	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	122								p.L122L(1)		endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						AGCTCACCTGGAGAAGAAAGT	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											88.0	84.0	86.0					16																	4776983		2197	4300	6497	SO:0001819	synonymous_variant	124401			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.366C>G	16.37:g.4776983G>C			B4DWU4|D3DUE2|Q8TF25	Silent	SNP	ENST00000304283.4	37	CCDS10520.1																																																																																				0.612	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3		NM_133450	
AP1G2	8906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24033327	24033327	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr14:24033327T>C	ENST00000308724.5	-	10	1774	c.1019A>G	c.(1018-1020)gAt>gGt	p.D340G	AP1G2_ENST00000397120.3_Missense_Mutation_p.D340G|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'Flank	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	340					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)	p.D340G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AGCACTGTGATCAGACTGCAC	0.592																																																	1	Substitution - Missense(1)	kidney(1)											79.0	55.0	63.0					14																	24033327		2203	4300	6503	SO:0001583	missense	8906			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1019A>G	14.37:g.24033327T>C	ENSP00000312442:p.Asp340Gly		D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.573763	0.86542	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.27104	1.69;1.69	4.47	4.47	0.54385	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49098	0.1537	M	0.77616	2.38	0.80722	D	1	D;D	0.53462	0.96;0.96	P;D	0.66847	0.907;0.947	T	0.52586	-0.8556	10	0.62326	D	0.03	-13.3131	11.7655	0.51928	0.0:0.0:0.0:1.0	.	340;195	O75843;Q86V28	AP1G2_HUMAN;.	G	340;340;109;195	ENSP00000312442:D340G;ENSP00000380309:D340G	ENSP00000312442:D340G	D	-	2	0	AP1G2	23103167	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.130000	0.77235	1.872000	0.54250	0.455000	0.32223	GAT		0.592	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4		NM_003917	
ARHGAP25	9938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	69034592	69034592	+	Silent	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr2:69034592G>A	ENST00000295381.3	+	5	1070	c.651G>A	c.(649-651)ggG>ggA	p.G217G	ARHGAP25_ENST00000409202.3_Silent_p.G218G|ARHGAP25_ENST00000409030.3_Silent_p.G210G|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Silent_p.G178G|ARHGAP25_ENST00000544262.1_Silent_p.G192G|ARHGAP25_ENST00000409220.1_Silent_p.G211G|ARHGAP25_ENST00000497079.1_Silent_p.G211G	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	217	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.G211G(1)|p.A210fs*4(1)|p.G218G(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TTGATGCTGGGGAGCGGCCCT	0.607																																																	3	Substitution - coding silent(2)|Deletion - Frameshift(1)	kidney(2)|breast(1)											108.0	102.0	104.0					2																	69034592		2203	4300	6503	SO:0001819	synonymous_variant	9938			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.651G>A	2.37:g.69034592G>A			A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37		.	.	.	.	.	.	.	.	.	.	G	10.44	1.349575	0.24426	.	.	ENSG00000163219	ENST00000497259	T	0.50813	0.73	4.78	2.92	0.33932	.	0.101709	0.64402	D	0.000002	T	0.52058	0.1711	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51458	-0.8703	7	0.87932	D	0	.	6.2597	0.20893	0.1643:0.1527:0.6829:0.0	.	.	.	.	E	77	ENSP00000417818:G77E	ENSP00000417818:G77E	G	+	2	0	ARHGAP25	68888096	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	1.360000	0.34125	0.587000	0.29643	0.555000	0.69702	GGG		0.607	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_014882	
ARID1A	8289	hgsc.bcm.edu;ucsc.edu	37	1	27057952	27057952	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:27057952delC	ENST00000324856.7	+	3	2031	c.1660delC	c.(1660-1662)ccafs	p.P554fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.P554fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.P171fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	554					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTACTCACAGCCACAGGCTCA	0.652			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													165.0	173.0	170.0					1																	27057952		2203	4300	6503	SO:0001589	frameshift_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1660delC	1.37:g.27057952delC	ENSP00000320485:p.Pro554fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	CCDS285.1																																																																																				0.652	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135	
ATF4	468	hgsc.bcm.edu	37	22	39917910	39917912	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	GTG	GTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr22:39917910_39917912delGTG	ENST00000337304.2	+	2	1241_1243	c.359_361delGTG	c.(358-363)tgtgat>tat	p.120_121CD>Y	ATF4_ENST00000404241.2_In_Frame_Del_p.120_121CD>Y|ATF4_ENST00000396680.1_In_Frame_Del_p.120_121CD>Y	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	120					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	GATGACACTTGTGATCTCTTTGC	0.502																																																	0																																										SO:0001651	inframe_deletion	468			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.359_361delGTG	22.37:g.39917910_39917912delGTG	ENSP00000336790:p.Cys120_Asp121delinsTyr		Q9UH31	In_Frame_Del	DEL	ENST00000337304.2	37	CCDS13996.1																																																																																				0.502	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1		NM_001675	
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																																	0																																												0					10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A				RNA	SNP	ENST00000412114.1	37																																																																																					0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1		XR_040540	
C1orf204	284677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	159811018	159811018	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:159811018G>T	ENST00000368102.1	-	3	449	c.340C>A	c.(340-342)Cca>Aca	p.P114T	C1orf204_ENST00000491974.1_Intron	NM_001134233.1	NP_001127705.1	Q5VU13	VSIG8_HUMAN	chromosome 1 open reading frame 204	0	Ig-like V-type 1.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)	p.P114T(2)		kidney(1)	1						tcacagtgtgggctggagctg	0.542																																																	2	Substitution - Missense(2)	kidney(2)											80.0	78.0	79.0					1																	159811018		692	1591	2283	SO:0001583	missense	284677			AK096506	CCDS44253.1	1q23.1	2012-07-30			ENSG00000188004	ENSG00000188004			27647	protein-coding gene	gene with protein product							Standard	NM_001134233		Approved	FLJ39187		Q5VU13	OTTHUMG00000035430	ENST00000368102.1:c.340C>A	1.37:g.159811018G>T	ENSP00000357082:p.Pro114Thr		Q5VU14	Missense_Mutation	SNP	ENST00000368102.1	37	CCDS44253.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979228	0.34942	.	.	ENSG00000188004	ENST00000368102	.	.	.	2.83	1.88	0.25563	.	.	.	.	.	T	0.19967	0.0480	.	.	.	0.09310	N	1	D	0.58268	0.982	P	0.48063	0.565	T	0.05099	-1.0906	7	0.87932	D	0	.	6.1133	0.20112	0.1485:0.0:0.8515:0.0	.	114	Q5VU13-2	.	T	114	.	ENSP00000357082:P114T	P	-	1	0	C1orf204	158077642	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.073000	0.14640	0.742000	0.32697	0.436000	0.28706	CCA		0.542	C1orf204-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085976.1		NM_001134233	
FAM217A	222826	hgsc.bcm.edu;ucsc.edu	37	6	4069047	4069058	+	In_Frame_Del	DEL	CTTTTTGGTCCC	CTTTTTGGTCCC	-	rs148412142	byFrequency	TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	CTTTTTGGTCCC	CTTTTTGGTCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr6:4069047_4069058delCTTTTTGGTCCC	ENST00000274673.3	-	7	1802_1813	c.1399_1410delGGGACCAAAAAG	c.(1399-1410)gggaccaaaaagdel	p.GTKK467del	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	467																	GGTAAAGTTTCTTTTTGGTCCCAAAGTTTCTC	0.41																																																	0																																										SO:0001651	inframe_deletion	0			BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 146"""	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.1399_1410delGGGACCAAAAAG	6.37:g.4069047_4069058delCTTTTTGGTCCC	ENSP00000274673:p.Gly467_Lys470del		Q5JYK1	In_Frame_Del	DEL	ENST00000274673.3	37	CCDS4489.1																																																																																				0.410	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2		NM_173563	
KIAA1456	57604	hgsc.bcm.edu;ucsc.edu	37	8	12870213	12870216	+	Frame_Shift_Del	DEL	CTTA	CTTA	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	CTTA	CTTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr8:12870213_12870216delCTTA	ENST00000524591.2	+	4	664_667	c.175_178delCTTA	c.(175-180)cttaaafs	p.LK59fs	KIAA1456_ENST00000447063.2_Frame_Shift_Del_p.LK59fs	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	59							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TGGAAAATATCTTAAAGTGAACAG	0.422																																																	0																																										SO:0001589	frameshift_variant	0			BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.175_178delCTTA	8.37:g.12870213_12870216delCTTA	ENSP00000432695:p.Leu59fs		Q96AW6	Frame_Shift_Del	DEL	ENST00000524591.2	37	CCDS47808.1																																																																																				0.422	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2		NM_001099677	
CAP2	10486	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	17556592	17556592	+	Silent	SNP	A	A	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr6:17556592A>G	ENST00000229922.2	+	13	1885	c.1353A>G	c.(1351-1353)agA>agG	p.R451R	CAP2_ENST00000489374.1_Silent_p.R339R|CAP2_ENST00000493172.1_Silent_p.R191R|CAP2_ENST00000465994.1_Silent_p.R387R|CAP2_ENST00000378990.2_Silent_p.R425R	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	451	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.R451R(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TTTTCCAGAGAGAATTTCCCA	0.403																																																	1	Substitution - coding silent(1)	kidney(1)											123.0	113.0	117.0					6																	17556592		2203	4300	6503	SO:0001819	synonymous_variant	10486			BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.1353A>G	6.37:g.17556592A>G			B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Silent	SNP	ENST00000229922.2	37	CCDS4539.1																																																																																				0.403	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			
CCNB2	9133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	59415824	59415824	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr15:59415824A>T	ENST00000288207.2	+	8	1275	c.1084A>T	c.(1084-1086)Atc>Ttc	p.I362F	RP11-59H7.3_ENST00000559026.1_RNA|CCNB2_ENST00000559622.1_Missense_Mutation_p.I234F	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	362					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.I362F(1)		kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						AACTAAATTCATCGTAAGTAC	0.428																																																	1	Substitution - Missense(1)	kidney(1)											94.0	78.0	83.0					15																	59415824		2191	4291	6482	SO:0001583	missense	9133			AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.1084A>T	15.37:g.59415824A>T	ENSP00000288207:p.Ile362Phe		B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	37	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.712125	0.30322	.	.	ENSG00000157456	ENST00000288207	T	0.21543	2.0	5.44	5.44	0.79542	Cyclin, C-terminal (1);Cyclin-like (2);	0.614953	0.17434	N	0.174379	T	0.23766	0.0575	L	0.47716	1.5	0.29121	N	0.880237	B;B	0.18013	0.025;0.012	B;B	0.33620	0.021;0.167	T	0.16158	-1.0412	10	0.54805	T	0.06	.	9.2198	0.37370	0.9193:0.0:0.0807:0.0	.	362;362	Q53HG9;O95067	.;CCNB2_HUMAN	F	362	ENSP00000288207:I362F	ENSP00000288207:I362F	I	+	1	0	CCNB2	57203116	0.985000	0.35326	1.000000	0.80357	0.585000	0.36419	3.140000	0.50585	2.054000	0.61138	0.482000	0.46254	ATC		0.428	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1		NM_004701	
CDH1	999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68845698	68845698	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr16:68845698A>G	ENST00000261769.5	+	7	1135	c.944A>G	c.(943-945)aAt>aGt	p.N315S	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.N315S|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	315	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		N -> S (in lobular breast carcinoma). {ECO:0000269|PubMed:7961105}.		adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.N315S(3)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CCTGACAAAAATATGTTCACC	0.547			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	4	Substitution - Missense(3)|Unknown(1)	breast(3)|kidney(1)											113.0	97.0	103.0					16																	68845698		2198	4300	6498	SO:0001583	missense	999	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.944A>G	16.37:g.68845698A>G	ENSP00000261769:p.Asn315Ser		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	A	4.505	0.093646	0.08632	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.53206	0.63;0.63	5.19	-1.18	0.09617	Cadherin (4);Cadherin-like (1);	0.958419	0.08586	N	0.923785	T	0.33498	0.0865	L	0.45051	1.395	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.001	T	0.32268	-0.9913	10	0.45353	T	0.12	.	1.825	0.03119	0.54:0.1126:0.1299:0.2175	.	315;315	Q9UII8;P12830	.;CADH1_HUMAN	S	315	ENSP00000261769:N315S;ENSP00000414946:N315S	ENSP00000261769:N315S	N	+	2	0	CDH1	67403199	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.613000	0.24299	-0.176000	0.10707	-0.496000	0.04628	AAT		0.547	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2		NM_004360	
CEP152	22995	hgsc.bcm.edu;ucsc.edu	37	15	49088226	49088228	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr15:49088226_49088228delTTG	ENST00000380950.2	-	6	857_859	c.670_672delCAA	c.(670-672)caadel	p.Q224del	CEP152_ENST00000325747.5_In_Frame_Del_p.Q131del|CEP152_ENST00000399334.3_In_Frame_Del_p.Q224del	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	224					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTCCTAAAAATTGTTGTTGCAGG	0.35																																																	0																																										SO:0001651	inframe_deletion	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.670_672delCAA	15.37:g.49088232_49088234delTTG	ENSP00000370337:p.Gln224del		E7ER66|Q17RV1|Q6NTA0	In_Frame_Del	DEL	ENST00000380950.2	37	CCDS58361.1																																																																																				0.350	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1		NM_014985	
CHEK2	11200	broad.mit.edu;hgsc.bcm.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																															yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	9	Substitution - Missense(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)																																								SO:0001583	missense	11200			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1		NM_001005735	
CHODL	140578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	19629058	19629058	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr21:19629058G>A	ENST00000299295.2	+	2	703	c.312G>A	c.(310-312)tgG>tgA	p.W104*	CHODL_ENST00000400127.1_Nonsense_Mutation_p.W63*|CHODL_ENST00000400131.1_Nonsense_Mutation_p.W63*|CHODL_ENST00000400135.1_Nonsense_Mutation_p.W63*|CHODL_ENST00000543733.1_Nonsense_Mutation_p.W85*|CHODL_ENST00000400128.1_Nonsense_Mutation_p.W63*|CHODL_ENST00000338326.3_Nonsense_Mutation_p.W63*	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	104	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)	p.W104*(1)|p.W63*(1)		kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		TAGGGCTTTGGAGGAATGGAG	0.473																																																	2	Substitution - Nonsense(2)	kidney(2)											109.0	117.0	114.0					21																	19629058		2203	4300	6503	SO:0001587	stop_gained	140578			AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"""chromosome 21 open reading frame 68"""	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.312G>A	21.37:g.19629058G>A	ENSP00000299295:p.Trp104*		B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Nonsense_Mutation	SNP	ENST00000299295.2	37	CCDS13570.1	.	.	.	.	.	.	.	.	.	.	G	37	6.485899	0.97607	.	.	ENSG00000154645	ENST00000400128;ENST00000400131;ENST00000400135;ENST00000400127;ENST00000299295;ENST00000338326;ENST00000543733	.	.	.	5.82	5.82	0.92795	.	0.288290	0.40064	N	0.001186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.5754	19.106	0.93294	0.0:0.0:1.0:0.0	.	.	.	.	X	63;63;63;63;104;63;85	.	.	W	+	3	0	CHODL	18550929	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.319000	0.51983	2.759000	0.94783	0.557000	0.71058	TGG		0.473	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158232.1		NM_024944	
COL11A1	1301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	103355037	103355037	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:103355037C>T	ENST00000370096.3	-	59	4750	c.4438G>A	c.(4438-4440)Gga>Aga	p.G1480R	COL11A1_ENST00000353414.4_Missense_Mutation_p.G1441R|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1492R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1364R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1480	Collagen-like 7.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1480R(1)|p.G1492R(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGGAGATCCTTGAGTTCCA	0.453																																																	2	Substitution - Missense(2)	kidney(2)											84.0	82.0	83.0					1																	103355037		2203	4300	6503	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4438G>A	1.37:g.103355037C>T	ENSP00000359114:p.Gly1480Arg		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965354	0.74131	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.97491	4.015	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.96766	0.9565	10	0.87932	D	0	.	19.3074	0.94169	0.0:1.0:0.0:0.0	.	1364;1441;1492;1480;700	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	R	1480;1492;1441;700;1364	ENSP00000359114:G1480R;ENSP00000351163:G1492R;ENSP00000302551:G1441R;ENSP00000426533:G1364R	ENSP00000302551:G1441R	G	-	1	0	COL11A1	103127625	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	7.818000	0.86416	2.560000	0.86352	0.563000	0.77884	GGA		0.453	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1		NM_080630	
COL1A1	1277	broad.mit.edu;ucsc.edu	37	17	48266574	48266574	+	Silent	SNP	A	A	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr17:48266574A>G	ENST00000225964.5	-	40	3010	c.2892T>C	c.(2890-2892)ccT>ccC	p.P964P		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	964	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P964P(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CTCTCTGACCAGGCAGGCCGA	0.617			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																																	Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	1	Substitution - coding silent(1)	kidney(1)											38.0	41.0	40.0					17																	48266574		2203	4300	6503	SO:0001819	synonymous_variant	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2892T>C	17.37:g.48266574A>G			O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	CCDS11561.1																																																																																				0.617	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			
CRHR2	1395	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	30701795	30701795	+	Silent	SNP	G	G	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr7:30701795G>T	ENST00000471646.1	-	7	1152	c.735C>A	c.(733-735)ggC>ggA	p.G245G	CRHR2_ENST00000506074.2_Silent_p.G245G|CRHR2_ENST00000348438.4_Silent_p.G272G|CRHR2_ENST00000341843.4_Silent_p.G231G	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	245					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)	p.G245G(1)|p.G231G(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGTAGAGCTTGCCGATGGCCC	0.562																																																	2	Substitution - coding silent(2)	kidney(2)											117.0	110.0	112.0					7																	30701795		2203	4300	6503	SO:0001819	synonymous_variant	1395				CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.735C>A	7.37:g.30701795G>T			B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Silent	SNP	ENST00000471646.1	37	CCDS5429.1																																																																																				0.562	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			
CXorf66	347487	hgsc.bcm.edu;ucsc.edu	37	X	139038512	139038512	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chrX:139038512G>T	ENST00000370540.1	-	3	652	c.629C>A	c.(628-630)cCt>cAt	p.P210H		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	210						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GAATAGCTGAGGTGGCCTGAC	0.438																																																	0													150.0	133.0	139.0					X																	139038512		2203	4300	6503	SO:0001583	missense	347487				CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.629C>A	X.37:g.139038512G>T	ENSP00000359571:p.Pro210His			Missense_Mutation	SNP	ENST00000370540.1	37	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896782	0.33535	.	.	ENSG00000203933	ENST00000370540	T	0.42900	0.96	4.31	0.458	0.16670	.	1.286710	0.05562	N	0.569481	T	0.45994	0.1370	L	0.32530	0.975	0.09310	N	1	D	0.71674	0.998	P	0.62740	0.906	T	0.27468	-1.0073	9	.	.	.	-0.0677	3.2322	0.06752	0.2091:0.0:0.4318:0.3592	.	210	Q5JRM2	CX066_HUMAN	H	210	ENSP00000359571:P210H	.	P	-	2	0	CXorf66	138866178	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.257000	0.08745	-0.049000	0.13379	-1.196000	0.01674	CCT		0.438	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1		NM_001013403	
DAB2	1601	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	39376876	39376876	+	Silent	SNP	T	T	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr5:39376876T>A	ENST00000320816.6	-	12	2480	c.2013A>T	c.(2011-2013)ggA>ggT	p.G671G	DAB2_ENST00000509337.1_Silent_p.G650G|DAB2_ENST00000339788.6_Silent_p.G453G|DAB2_ENST00000545653.1_Silent_p.G650G	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	671	Required for interaction with GRB2 and CSK. {ECO:0000250}.|Required for interaction with MYO6. {ECO:0000250}.|Sufficient for interaction with GRB2. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.G671G(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AAGTCTGCTCTCCCTTCCGCG	0.493											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)											64.0	64.0	64.0					5																	39376876		2203	4300	6503	SO:0001819	synonymous_variant	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.2013A>T	5.37:g.39376876T>A		885	A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	CCDS34149.1																																																																																				0.493	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1		NM_001343	
SPATA31D1	389763	broad.mit.edu;hgsc.bcm.edu	37	9	84609412	84609412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr9:84609412C>T	ENST00000344803.2	+	4	4074	c.4027C>T	c.(4027-4029)Cag>Tag	p.Q1343*		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1343					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.Q1343*(2)									CTTGAAAACACAGCCTCCTCC	0.468																																																	2	Substitution - Nonsense(2)	kidney(2)											23.0	22.0	22.0					9																	84609412		1881	4098	5979	SO:0001587	stop_gained	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4027C>T	9.37:g.84609412C>T	ENSP00000341988:p.Gln1343*			Nonsense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	38	6.799647	0.97849	.	.	ENSG00000214929	ENST00000344803	.	.	.	2.76	2.76	0.32466	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.0227	9.1785	0.37127	0.0:1.0:0.0:0.0	.	.	.	.	X	1343	.	ENSP00000341988:Q1343X	Q	+	1	0	FAM75D1	83799232	0.017000	0.18338	0.007000	0.13788	0.045000	0.14185	0.786000	0.26844	1.884000	0.54569	0.655000	0.94253	CAG		0.468	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1		NM_001001670	
FAM76A	199870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	28081734	28081734	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:28081734C>A	ENST00000373954.6	+	7	730	c.628C>A	c.(628-630)Cca>Aca	p.P210T	FAM76A_ENST00000234549.7_Missense_Mutation_p.P215T|FAM76A_ENST00000010299.6_Missense_Mutation_p.P244T|FAM76A_ENST00000419687.2_Missense_Mutation_p.P130T|FAM76A_ENST00000530324.1_Missense_Mutation_p.P210T|FAM76A_ENST00000373949.1_Missense_Mutation_p.P181T	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	210								p.P210T(1)		endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGACTCACCAGGCACTGA	0.413																																																	1	Substitution - Missense(1)	kidney(1)											110.0	107.0	108.0					1																	28081734		2203	4300	6503	SO:0001583	missense	199870			AK098318	CCDS309.1, CCDS44092.1, CCDS44093.1, CCDS44094.1, CCDS44095.1	1p35.3	2008-02-05			ENSG00000009780	ENSG00000009780			28530	protein-coding gene	gene with protein product							Standard	NM_001143912		Approved	MGC34648	uc001bor.3	Q8TAV0	OTTHUMG00000003729	ENST00000373954.6:c.628C>A	1.37:g.28081734C>A	ENSP00000363065:p.Pro210Thr		B4DWT3|O95565|O95566|Q8N7J5	Missense_Mutation	SNP	ENST00000373954.6	37	CCDS309.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767445	0.31320	.	.	ENSG00000009780	ENST00000373954;ENST00000419687;ENST00000530324;ENST00000234549;ENST00000373949;ENST00000010299;ENST00000446647	T;T	0.30182	1.55;1.54	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000007	T	0.32734	0.0839	N	0.03608	-0.345	0.46701	D	0.999163	P;B;B;D;B;B	0.89917	0.844;0.036;0.043;1.0;0.078;0.078	P;B;B;D;B;B	0.87578	0.482;0.036;0.041;0.998;0.053;0.053	T	0.40683	-0.9550	10	0.22706	T	0.39	-12.0841	17.5641	0.87914	0.0:1.0:0.0:0.0	.	130;210;181;215;244;210	B4DWT3;E9PQL1;Q8TAV0-2;Q8TAV0-4;Q8TAV0-3;Q8TAV0	.;.;.;.;.;FA76A_HUMAN	T	210;130;210;215;181;244;23	ENSP00000234549:P215T;ENSP00000010299:P244T	ENSP00000010299:P244T	P	+	1	0	FAM76A	27954321	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	4.218000	0.58554	2.814000	0.96858	0.655000	0.94253	CCA		0.413	FAM76A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000010514.3		NM_152660	
RMDN3	55177	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	41046894	41046894	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr15:41046894G>T	ENST00000260385.6	-	1	1155	c.88C>A	c.(88-90)Ctt>Att	p.L30I	RMDN3_ENST00000338376.3_Missense_Mutation_p.L30I|RMDN3_ENST00000558560.1_5'Flank			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	30					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L30I(1)									TGGCTGTAAAGGAGGCACAGG	0.657																																																	1	Substitution - Missense(1)	kidney(1)											57.0	56.0	56.0					15																	41046894		2203	4300	6503	SO:0001583	missense	0			AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.88C>A	15.37:g.41046894G>T	ENSP00000260385:p.Leu30Ile		A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071134	0.55646	.	.	ENSG00000137824	ENST00000260385;ENST00000338376	T;T	0.33216	1.42;1.42	5.59	1.44	0.22558	.	0.475081	0.23504	N	0.047461	T	0.13927	0.0337	N	0.17082	0.46	0.31193	N	0.700711	B	0.14805	0.011	B	0.11329	0.006	T	0.07829	-1.0752	10	0.25751	T	0.34	-1.9296	3.2249	0.06729	0.3345:0.0:0.485:0.1804	.	30	Q96TC7	RMD3_HUMAN	I	30	ENSP00000260385:L30I;ENSP00000342493:L30I	ENSP00000260385:L30I	L	-	1	0	FAM82A2	38834186	0.602000	0.26916	0.950000	0.38849	0.922000	0.55478	1.039000	0.30266	0.836000	0.34901	-0.140000	0.14226	CTT		0.657	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1		NM_018145	
FBN3	84467	hgsc.bcm.edu;ucsc.edu	37	19	8183824	8183825	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr19:8183824_8183825delAC	ENST00000600128.1	-	26	3707_3708	c.3293_3294delGT	c.(3292-3294)tgtfs	p.C1098fs	FBN3_ENST00000270509.2_Frame_Shift_Del_p.C1098fs|FBN3_ENST00000601739.1_Frame_Shift_Del_p.C1098fs			Q75N90	FBN3_HUMAN	fibrillin 3	1098	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C1098C(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCCAGGGGGACACTGGCACTT	0.584																																																	1	Substitution - coding silent(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3293_3294delGT	19.37:g.8183826_8183827delAC	ENSP00000470498:p.Cys1098fs		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Frame_Shift_Del	DEL	ENST00000600128.1	37	CCDS12196.1																																																																																				0.584	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2		NM_032447	
FGF17	8822	broad.mit.edu;hgsc.bcm.edu	37	8	21903771	21903771	+	Silent	SNP	C	C	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr8:21903771C>A	ENST00000359441.3	+	3	722	c.219C>A	c.(217-219)atC>atA	p.I73I	FGF17_ENST00000521709.1_3'UTR|FGF17_ENST00000518533.1_Silent_p.I62I	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	73					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)	p.I73I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		GGCGTCGCATCTCCGCCACCG	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											68.0	63.0	65.0					8																	21903771		2203	4300	6503	SO:0001819	synonymous_variant	8822			AB009249	CCDS6019.1	8p21.3	2005-10-30			ENSG00000158815	ENSG00000158815			3673	protein-coding gene	gene with protein product		603725				9514906, 9751161	Standard	XM_005273675		Approved	FGF-13	uc003xag.3	O60258	OTTHUMG00000097051	ENST00000359441.3:c.219C>A	8.37:g.21903771C>A			B7ZLG4|Q2M2W1	Silent	SNP	ENST00000359441.3	37	CCDS6019.1																																																																																				0.657	FGF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214154.2		NM_003867	
FIBP	9158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65653801	65653801	+	Silent	SNP	C	C	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr11:65653801C>T	ENST00000338369.2	-	4	616	c.504G>A	c.(502-504)cgG>cgA	p.R168R	FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000533045.1_Silent_p.R165R|FIBP_ENST00000357519.4_Silent_p.R168R	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	168					fibroblast growth factor receptor signaling pathway (GO:0008543)|platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)	p.R168R(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		ACCTGGCCAACCGGTCAGAGA	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											118.0	93.0	102.0					11																	65653801		2201	4296	6497	SO:0001819	synonymous_variant	9158			AF010187	CCDS8118.1, CCDS8119.1	11q13.1	2006-06-15			ENSG00000172500	ENSG00000172500			3705	protein-coding gene	gene with protein product		608296				9806903	Standard	NM_004214		Approved	FGFIBP	uc001ogd.3	O43427	OTTHUMG00000166846	ENST00000338369.2:c.504G>A	11.37:g.65653801C>T			A8K0J7|Q27Q85|Q6IBQ3|Q9HD65	Silent	SNP	ENST00000338369.2	37	CCDS8119.1																																																																																				0.577	FIBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000391575.2		NM_198897	
FMN2	56776	hgsc.bcm.edu	37	1	240370966	240370998	+	In_Frame_Del	DEL	GCAATACCCCCTCCGCCCCCTCTTCCCGGGGCA	GCAATACCCCCTCCGCCCCCTCTTCCCGGGGCA	-	rs201866430|rs144739133|rs142178619|rs200503778|rs200886762|rs199866405|rs111896385|rs201221641|rs529662001|rs367627381|rs372401580|rs562360130|rs145005157	byFrequency	TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	GCAATACCCCCTCCGCCCCCTCTTCCCGGGGCA	GCAATACCCCCTCCGCCCCCTCTTCCCGGGGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:240370966_240370998delGCAATACCCCCTCCGCCCCCTCTTCCCGGGGCA	ENST00000319653.9	+	5	3084_3116	c.2854_2886delGCAATACCCCCTCCGCCCCCTCTTCCCGGGGCA	c.(2854-2886)gcaataccccctccgccccctcttcccggggcadel	p.AIPPPPPLPGA952del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	952	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1099L(2)|p.P1099P(1)|p.P1099T(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCCGGAGCGGCAATACCCCCTCCGCCCCCTCTTCCCGGGGCAGGCATACCCC	0.7																																																	4	Substitution - Missense(3)|Substitution - coding silent(1)	endometrium(2)|lung(1)|kidney(1)																																								SO:0001651	inframe_deletion	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2854_2886delGCAATACCCCCTCCGCCCCCTCTTCCCGGGGCA	1.37:g.240370966_240370998delGCAATACCCCCTCCGCCCCCTCTTCCCGGGGCA	ENSP00000318884:p.Ala952_Ala962del		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	CCDS31069.2																																																																																				0.700	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2		XM_371352	
FNDC1	84624	hgsc.bcm.edu	37	6	159660797	159660797	+	Missense_Mutation	SNP	A	A	G	rs398066440|rs141435210|rs3842694	byFrequency	TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr6:159660797A>G	ENST00000297267.9	+	14	4629	c.4429A>G	c.(4429-4431)Acc>Gcc	p.T1477A	FNDC1-IT1_ENST00000419703.1_RNA|FNDC1_ENST00000340366.6_Missense_Mutation_p.T1414A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1477	Thr-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1474_T1479delRRTTTT(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ccgccgcacgaccaccacccg	0.667																																																	1	Deletion - In frame(1)	autonomic_ganglia(1)											27.0	38.0	35.0					6																	159660797		1528	2938	4466	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4429A>G	6.37:g.159660797A>G	ENSP00000297267:p.Thr1477Ala		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.570|5.570	0.290054|0.290054	0.10567|0.10567	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.10099	.|2.91;3.73	5.32|5.32	1.53|1.53	0.23141|0.23141	.|.	.|0.182130	.|0.32687	.|N	.|0.005768	T|T	0.02610|0.02610	0.0079|0.0079	L|L	0.61218|0.61218	1.895|1.895	0.35502|0.35502	D|D	0.799883|0.799883	.|B;B	.|0.14438	.|0.01;0.003	.|B;B	.|0.19391	.|0.025;0.004	T|T	0.45542|0.45542	-0.9254|-0.9254	5|10	.|0.02654	.|T	.|1	-14.0125|-14.0125	6.3522|6.3522	0.21383|0.21383	0.7234:0.1334:0.1432:0.0|0.7234:0.1334:0.1432:0.0	.|.	.|1414;1477	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	G|A	1372|1477;1414	.|ENSP00000297267:T1477A;ENSP00000342460:T1414A	.|ENSP00000297267:T1477A	D|T	+|+	2|1	0|0	FNDC1|FNDC1	159580787|159580787	0.741000|0.741000	0.28217|0.28217	0.016000|0.016000	0.15963|0.15963	0.021000|0.021000	0.10359|0.10359	0.000000|0.000000	0.12993|0.12993	0.022000|0.022000	0.15160|0.15160	-0.274000|-0.274000	0.10170|0.10170	GAC|ACC		0.667	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3		NM_032532	
FOXD4L5	653427	hgsc.bcm.edu	37	9	70177922	70177923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr9:70177922_70177923insC	ENST00000377420.1	-	1	892_893	c.61_62insG	c.(61-63)gatfs	p.D21fs		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	21					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|lung(2)	7						GTCTTCCCCATCGGAGTCCCGG	0.619																																																	0																																										SO:0001589	frameshift_variant	653427				CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.62dupG	9.37:g.70177923_70177923dupC	ENSP00000366637:p.Asp21fs			Frame_Shift_Ins	INS	ENST00000377420.1	37	CCDS47977.1																																																																																				0.619	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037122.1		NM_001126334	
GFM2	84340	hgsc.bcm.edu	37	5	74021852	74021852	+	Missense_Mutation	SNP	A	A	T	rs5868753|rs76339998	byFrequency	TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr5:74021852A>T	ENST00000296805.3	-	18	2283	c.1826T>A	c.(1825-1827)tTt>tAt	p.F609Y	RNU6-658P_ENST00000384606.1_RNA|GFM2_ENST00000509430.1_Missense_Mutation_p.F609Y|GFM2_ENST00000345239.2_Missense_Mutation_p.F562Y|GFM2_ENST00000515125.1_5'UTR	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2									p.F609Y(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		AGCATACTCAAACTCAATCAC	0.413																																																	1	Substitution - Missense(1)	lung(1)											58.0	107.0	90.0					5																	74021852		2163	4289	6452	SO:0001583	missense	84340			AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1826T>A	5.37:g.74021852A>T	ENSP00000296805:p.Phe609Tyr			Missense_Mutation	SNP	ENST00000296805.3	37	CCDS4023.1	63	0.028846153846153848	54	0.10975609756097561	4	0.011049723756906077	1	0.0017482517482517483	4	0.005277044854881266	-	1.721	-0.496544	0.04291	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000509430	T;T;T	0.29142	1.58;1.58;1.58	5.7	3.31	0.37934	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	.	.	.	.	T	0.00271	0.0008	N	0.19112	0.55	0.21984	N	0.999437	.;P	0.46457	.;0.878	.;B	0.33690	.;0.168	T	0.07809	-1.0753	9	0.02654	T	1	.	9.8843	0.41253	0.8619:0.0:0.1381:0.0	.	562;609	Q969S9-2;Q969S9	.;RRF2M_HUMAN	Y	609;562;609	ENSP00000296805:F609Y;ENSP00000296804:F562Y;ENSP00000427004:F609Y	ENSP00000296805:F609Y	F	-	2	0	GFM2	74057608	0.863000	0.29885	0.002000	0.10522	0.043000	0.13939	3.787000	0.55439	0.442000	0.26555	0.460000	0.39030	TTT		0.413	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2		NM_032380	
GJB4	127534	broad.mit.edu;hgsc.bcm.edu	37	1	35227533	35227533	+	Silent	SNP	C	C	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:35227533C>T	ENST00000339480.1	+	2	1048	c.678C>T	c.(676-678)tgC>tgT	p.C226C	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	226					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.C226C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCCTCGGTGCCGGGAATGCC	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											56.0	52.0	53.0					1																	35227533		2203	4300	6503	SO:0001819	synonymous_variant	127534				CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.678C>T	1.37:g.35227533C>T			B3KQ82	Silent	SNP	ENST00000339480.1	37	CCDS383.1																																																																																				0.622	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1		NM_153212	
GPR124	25960	broad.mit.edu	37	8	37693252	37693252	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr8:37693252C>G	ENST00000412232.2	+	13	2027	c.2014C>G	c.(2014-2016)Cgt>Ggt	p.R672G	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	672					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R665G(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGCAAGAGGCGTGGCGTGGC	0.652																																																	1	Substitution - Missense(1)	kidney(1)											39.0	43.0	42.0					8																	37693252		2203	4300	6503	SO:0001583	missense	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2014C>G	8.37:g.37693252C>G	ENSP00000406367:p.Arg672Gly		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108163	0.77096	.	.	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.61392	0.11	5.29	4.39	0.52855	.	0.063428	0.64402	D	0.000020	T	0.72495	0.3467	M	0.69358	2.11	0.50039	D	0.999849	D	0.89917	1.0	D	0.67548	0.952	T	0.75158	-0.3416	10	0.56958	D	0.05	-8.3763	15.0059	0.71513	0.1435:0.8565:0.0:0.0	.	672	Q96PE1	GP124_HUMAN	G	665;672	ENSP00000406367:R672G	ENSP00000406367:R672G	R	+	1	0	GPR124	37812410	0.998000	0.40836	0.967000	0.41034	0.728000	0.41692	1.473000	0.35387	1.184000	0.42957	0.655000	0.94253	CGT		0.652	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			
GRIK3	2899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	37271904	37271904	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:37271904C>A	ENST00000373091.3	-	14	2131	c.2115G>T	c.(2113-2115)gaG>gaT	p.E705D	GRIK3_ENST00000373093.4_Missense_Mutation_p.E705D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	705					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.E705D(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CCCACATCTTCTCGAAGGTGG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											65.0	60.0	62.0					1																	37271904		2203	4300	6503	SO:0001583	missense	2899			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2115G>T	1.37:g.37271904C>A	ENSP00000362183:p.Glu705Asp		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264680	0.40095	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.11821	2.74;2.74	5.62	4.7	0.59300	Ionotropic glutamate receptor (2);	0.058725	0.64402	N	0.000003	T	0.11495	0.0280	L	0.39397	1.21	0.41610	D	0.988907	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.10382	-1.0632	10	0.27082	T	0.32	.	9.8158	0.40851	0.141:0.7815:0.0:0.0775	.	705;705	A9Z1Z8;Q13003	.;GRIK3_HUMAN	D	705	ENSP00000362183:E705D;ENSP00000362185:E705D	ENSP00000362183:E705D	E	-	3	2	GRIK3	37044491	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.035000	0.41155	1.363000	0.46019	0.549000	0.68633	GAG		0.602	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1		NM_000831	
GRIN2B	2904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14019045	14019045	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr12:14019045G>A	ENST00000609686.1	-	2	307	c.98C>T	c.(97-99)cCc>cTc	p.P33L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	33					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.P33L(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCCAATGCTGGGGGGGCTCTT	0.582																																																	1	Substitution - Missense(1)	kidney(1)											53.0	56.0	55.0					12																	14019045		2203	4300	6503	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.98C>T	12.37:g.14019045G>A	ENSP00000477455:p.Pro33Leu		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191317	0.78902	.	.	ENSG00000150086	ENST00000279593	T	0.11821	2.74	5.7	5.7	0.88788	.	0.220757	0.43260	D	0.000596	T	0.10252	0.0251	N	0.08118	0	0.54753	D	0.999988	B	0.10296	0.003	B	0.01281	0.0	T	0.21143	-1.0254	10	0.72032	D	0.01	.	19.8414	0.96690	0.0:0.0:1.0:0.0	.	33	Q13224	NMDE2_HUMAN	L	33	ENSP00000279593:P33L	ENSP00000279593:P33L	P	-	2	0	GRIN2B	13910312	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.202000	0.72131	2.680000	0.91292	0.563000	0.77884	CCC		0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			
GSTA3	2940	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	52764776	52764776	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr6:52764776T>G	ENST00000211122.3	-	5	435	c.370A>C	c.(370-372)Atc>Ctc	p.I124L	GSTA3_ENST00000370968.1_Missense_Mutation_p.I74L	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	124	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.I124L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTCTCTTTGATCAAGGCAATC	0.403																																																	1	Substitution - Missense(1)	kidney(1)											235.0	217.0	223.0					6																	52764776		2203	4300	6503	SO:0001583	missense	2940			AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4628	protein-coding gene	gene with protein product		605449	"""glutathione S-transferase A3"""			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.370A>C	6.37:g.52764776T>G	ENSP00000211122:p.Ile124Leu		O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	ENST00000211122.3	37	CCDS4947.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.734880	0.48939	.	.	ENSG00000174156	ENST00000370968;ENST00000211122;ENST00000431899	T;T;T	0.06218	4.47;4.47;3.33	3.91	1.46	0.22682	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.02929	0.0087	M	0.67569	2.06	0.21220	N	0.999756	B	0.09022	0.002	B	0.25405	0.06	T	0.36407	-0.9749	10	0.56958	D	0.05	.	7.5267	0.27660	0.0:0.1919:0.0:0.8081	.	124	Q16772	GSTA3_HUMAN	L	74;124;74	ENSP00000360007:I74L;ENSP00000211122:I124L;ENSP00000399142:I74L	ENSP00000211122:I124L	I	-	1	0	GSTA3	52872735	0.716000	0.27956	0.004000	0.12327	0.663000	0.39108	1.999000	0.40806	0.195000	0.20347	0.482000	0.46254	ATC		0.403	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1			
HERC2P4	100289574	broad.mit.edu	37	16	32163812	32163812	+	IGR	SNP	G	G	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr16:32163812G>T								RP11-1166P10.6 (67706 upstream) : HERC2P4 (17492 downstream)																							TGATGGAGCGGAGCTGGGAGT	0.517																																																	0																																										SO:0001628	intergenic_variant	440362																															16.37:g.32163812G>T				RNA	SNP		37																																																																																				0	0.517									
ITGB6	3694	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160994692	160994692	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr2:160994692C>G	ENST00000283249.2	-	9	1363	c.1126G>C	c.(1126-1128)Gaa>Caa	p.E376Q	ITGB6_ENST00000409872.1_Missense_Mutation_p.E376Q|ITGB6_ENST00000409967.2_Missense_Mutation_p.E376Q|ITGB6_ENST00000428609.2_Missense_Mutation_p.E334Q	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	376					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)	p.E376Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ACTTCCAGTTCCACCTCAGAC	0.413																																																	1	Substitution - Missense(1)	kidney(1)											198.0	171.0	180.0					2																	160994692		2203	4300	6503	SO:0001583	missense	3694				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1126G>C	2.37:g.160994692C>G	ENSP00000283249:p.Glu376Gln		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377515	0.82682	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.54	5.54	0.83059	Integrin beta subunit, N-terminal (2);	0.054204	0.64402	D	0.000001	T	0.74152	0.3679	L	0.52266	1.64	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.64776	0.929;0.929	T	0.70238	-0.4927	10	0.35671	T	0.21	.	19.8568	0.96762	0.0:1.0:0.0:0.0	.	334;376	E9PEE8;P18564	.;ITB6_HUMAN	Q	376;334;376;376	ENSP00000283249:E376Q;ENSP00000408024:E334Q;ENSP00000386828:E376Q;ENSP00000386367:E376Q	ENSP00000283249:E376Q	E	-	1	0	ITGB6	160702938	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.819000	0.69243	2.764000	0.94973	0.650000	0.86243	GAA		0.413	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1		NM_000888	
LARP1B	55132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	129128464	129128464	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr4:129128464A>G	ENST00000326639.6	+	19	2684	c.2473A>G	c.(2473-2475)Aag>Gag	p.K825E	LARP1B_ENST00000441387.1_Silent_p.*788*|LARP1B_ENST00000354456.3_Missense_Mutation_p.K244E|LARP1B_ENST00000264584.5_Missense_Mutation_p.K766E|LARP1B_ENST00000506199.1_3'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	825						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K825E(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TTCTCAATCTAAGACACAGTC	0.299																																																	1	Substitution - Missense(1)	kidney(1)											51.0	55.0	54.0					4																	129128464		2202	4292	6494	SO:0001583	missense	55132				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2473A>G	4.37:g.129128464A>G	ENSP00000321997:p.Lys825Glu		Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.756084	0.31137	.	.	ENSG00000138709	ENST00000326639;ENST00000264584;ENST00000354456	T;T;T	0.03689	3.84;3.84;3.84	4.32	3.14	0.36123	.	0.164278	0.52532	N	0.000065	T	0.13586	0.0329	M	0.71871	2.18	0.31857	N	0.621464	D;B;D	0.76494	0.998;0.081;0.999	D;B;D	0.74674	0.941;0.012;0.984	T	0.02581	-1.1138	10	0.44086	T	0.13	.	9.7372	0.40395	0.9178:0.0:0.0822:0.0	.	35;244;825	Q659C4-8;Q659C4-5;Q659C4	.;.;LAR1B_HUMAN	E	825;766;244	ENSP00000321997:K825E;ENSP00000264584:K766E;ENSP00000346444:K244E	ENSP00000264584:K766E	K	+	1	0	LARP1B	129347914	1.000000	0.71417	0.833000	0.33012	0.093000	0.18481	6.927000	0.75840	0.688000	0.31529	0.459000	0.35465	AAG		0.299	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2		NM_018078	
LDB1	8861	hgsc.bcm.edu;ucsc.edu	37	10	103870867	103870868	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr10:103870867_103870868delTG	ENST00000425280.1	-	4	549_550	c.207_208delCA	c.(205-210)tacagafs	p.YR69fs	LDB1_ENST00000490751.1_5'UTR|LDB1_ENST00000361198.5_Frame_Shift_Del_p.YR33fs	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	69					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TCAAATATTCTGTAGTCAGTTT	0.564																																																	0																																										SO:0001589	frameshift_variant	8861			AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.207_208delCA	10.37:g.103870867_103870868delTG	ENSP00000392466:p.Tyr69fs		B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Frame_Shift_Del	DEL	ENST00000425280.1	37	CCDS44472.1																																																																																				0.564	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_001113407	
MIR143HG	728264	broad.mit.edu	37	5	148804230	148804231	+	lincRNA	DEL	CT	CT	-	rs137913465		TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr5:148804230_148804231delCT	ENST00000602964.1	+	0	4387_4388									MIR143 host gene (non-protein coding)																		CTTTCTTGGGCTCTCTCTCTCT	0.554																																																	0																																												0					5q32	2013-02-13			ENSG00000249669	ENSG00000249669		"""Long non-coding RNAs"""	42872	non-coding RNA	RNA, long non-coding							Standard	NR_105059		Approved				OTTHUMG00000163464		5.37:g.148804240_148804241delCT				RNA	DEL	ENST00000602964.1	37																																																																																					0.554	MIR143HG-009	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468028.1			
MARCH5	54708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	94109483	94109483	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr10:94109483T>G	ENST00000358935.2	+	5	941	c.609T>G	c.(607-609)caT>caG	p.H203Q	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	203					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H203Q(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TAGCAGATCATGTCTCTGCTA	0.398																																																	1	Substitution - Missense(1)	kidney(1)											270.0	262.0	265.0					10																	94109483		2203	4300	6503	SO:0001583	missense	54708			BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26025	protein-coding gene	gene with protein product		610637	"""ring finger protein 153"""	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.609T>G	10.37:g.94109483T>G	ENSP00000351813:p.His203Gln			Missense_Mutation	SNP	ENST00000358935.2	37	CCDS7420.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.285727	0.40394	.	.	ENSG00000198060	ENST00000358935	T	0.41758	0.99	6.02	-0.705	0.11252	.	0.000000	0.85682	D	0.000000	T	0.32255	0.0823	L	0.44542	1.39	0.53005	D	0.999964	B	0.10296	0.003	B	0.14023	0.01	T	0.13953	-1.0490	10	0.37606	T	0.19	-5.2125	12.6167	0.56580	0.0:0.4718:0.0:0.5282	.	203	Q9NX47	MARH5_HUMAN	Q	203	ENSP00000351813:H203Q	ENSP00000351813:H203Q	H	+	3	2	MARCH5	94099463	0.003000	0.15002	0.997000	0.53966	0.998000	0.95712	-1.263000	0.02850	-0.095000	0.12351	0.533000	0.62120	CAT		0.398	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1		NM_017824	
MKL2	57496	broad.mit.edu;ucsc.edu	37	16	14304164	14304164	+	Splice_Site	SNP	A	A	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr16:14304164A>G	ENST00000341243.5	+	2	186	c.186A>G	c.(184-186)ccA>ccG	p.P62P	MKL2_ENST00000318282.5_Splice_Site_p.P73P|MKL2_ENST00000571589.1_Splice_Site_p.P73P|MKL2_ENST00000573051.1_Splice_Site_p.P22P|MKL2_ENST00000574045.1_Splice_Site_p.P73P|MKL2_ENST00000572567.1_Splice_Site_p.P62P			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	62					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.P73P(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCATCATGCCACGTAAGATTT	0.478																																																	1	Substitution - coding silent(1)	kidney(1)											181.0	134.0	150.0					16																	14304164		2197	4300	6497	SO:0001630	splice_region_variant	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.187+1A>G	16.37:g.14304164A>G			A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Silent	SNP	ENST00000341243.5	37																																																																																					0.478	MKL2-202	KNOWN	basic	protein_coding	protein_coding			NM_014048	Silent
MNDA	4332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158812131	158812131	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:158812131A>G	ENST00000368141.4	+	2	449	c.188A>G	c.(187-189)gAc>gGc	p.D63G	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	63	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D63G(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GCCTGTCTAGACAAACTAATA	0.343																																																	1	Substitution - Missense(1)	kidney(1)											110.0	118.0	115.0					1																	158812131		2202	4300	6502	SO:0001583	missense	4332			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.188A>G	1.37:g.158812131A>G	ENSP00000357123:p.Asp63Gly			Missense_Mutation	SNP	ENST00000368141.4	37	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.525795	0.00959	.	.	ENSG00000163563	ENST00000368141	T	0.51071	0.72	3.35	-2.14	0.07123	Pyrin (2);	.	.	.	.	T	0.08758	0.0217	N	0.25957	0.775	0.09310	N	1	B	0.15930	0.015	B	0.20184	0.028	T	0.39522	-0.9610	9	0.02654	T	1	0.0144	7.4098	0.27011	0.5236:0.0:0.4764:0.0	.	63	P41218	MNDA_HUMAN	G	63	ENSP00000357123:D63G	ENSP00000357123:D63G	D	+	2	0	MNDA	157078755	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.689000	0.05144	-0.607000	0.05738	-0.385000	0.06624	GAC		0.343	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1		NM_002432	
MUC4	4585	broad.mit.edu	37	3	195506627	195506627	+	Missense_Mutation	SNP	T	T	G	rs145875920	byFrequency	TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr3:195506627T>G	ENST00000463781.3	-	2	12283	c.11824A>C	c.(11824-11826)Act>Cct	p.T3942P	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T3942P|MUC4_ENST00000349607.4_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.T3942P(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGTGCTGGTGACA	0.582													.|||	144	0.028754	0.0658	0.0115	5008	,	,		10596	0.0179		0.0189	False		,,,				2504	0.0123																2	Substitution - Missense(2)	kidney(2)											16.0	15.0	15.0					3																	195506627		575	1239	1814	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.11824A>C	3.37:g.195506627T>G	ENSP00000417498:p.Thr3942Pro		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	418	0.19139194139194138	95	0.19308943089430894	73	0.20165745856353592	134	0.23426573426573427	116	0.15303430079155672	N	5.184	0.219525	0.09863	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35048	1.33;1.42	.	.	.	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.19945	N	0.999946	B	0.25521	0.128	B	0.28638	0.092	T	0.36456	-0.9747	7	.	.	.	.	2.6735	0.05075	0.0:0.409:0.0:0.591	.	3814	E7ESK3	.	P	3942	ENSP00000417498:T3942P;ENSP00000420243:T3942P	.	T	-	1	0	MUC4	196991406	0.000000	0.05858	0.044000	0.18714	0.027000	0.11550	-2.555000	0.00925	0.348000	0.23949	0.055000	0.15244	ACT		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MYH13	8735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10253892	10253892	+	Silent	SNP	C	C	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr17:10253892C>T	ENST00000418404.3	-	11	1288	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	MYH13_ENST00000252172.4_Silent_p.A375A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	375	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.A375A(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGTCTGGCTCCGCCTGCTCCT	0.542																																																	2	Substitution - coding silent(2)	kidney(2)											116.0	112.0	114.0					17																	10253892		2203	4300	6503	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1125G>A	17.37:g.10253892C>T			O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	CCDS45613.1																																																																																				0.542	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1		NM_003802	
MYO1B	4430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	192228923	192228923	+	Nonsense_Mutation	SNP	C	C	A	rs200920355		TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr2:192228923C>A	ENST00000392318.3	+	11	1200	c.953C>A	c.(952-954)tCa>tAa	p.S318*	MYO1B_ENST00000339514.4_Nonsense_Mutation_p.S318*|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.S318*|MYO1B_ENST00000304164.4_Nonsense_Mutation_p.S318*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	318	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.S318*(2)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ATTGATCAATCAGTTCTAGAA	0.413																																																	2	Substitution - Nonsense(2)	kidney(2)											123.0	116.0	119.0					2																	192228923		2203	4300	6503	SO:0001587	stop_gained	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.953C>A	2.37:g.192228923C>A	ENSP00000376132:p.Ser318*		O43794|Q7Z6L5	Nonsense_Mutation	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	34	5.293741	0.95546	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	.	.	.	5.62	4.73	0.59995	.	0.127094	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.876	0.70493	0.0:0.8518:0.1482:0.0	.	.	.	.	X	318	.	ENSP00000306382:S318X	S	+	2	0	MYO1B	191937168	0.996000	0.38824	0.974000	0.42286	0.944000	0.59088	3.356000	0.52269	1.472000	0.48140	0.650000	0.86243	TCA		0.413	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1		NM_012223	
MYOM2	9172	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	2005831	2005831	+	Missense_Mutation	SNP	G	G	A	rs200247570		TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr8:2005831G>A	ENST00000262113.4	+	5	634	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	165	Ig-like C2-type 1.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.V165I(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATCCCACACCGTCTGGGAGAG	0.597																																																	1	Substitution - Missense(1)	kidney(1)											87.0	78.0	81.0					8																	2005831		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.493G>A	8.37:g.2005831G>A	ENSP00000262113:p.Val165Ile		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079125	0.55753	.	.	ENSG00000036448	ENST00000262113	T	0.70282	-0.47	4.86	3.02	0.34903	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.074852	0.53938	N	0.000060	T	0.69088	0.3072	M	0.68593	2.085	0.80722	D	1	B	0.32302	0.363	B	0.38458	0.274	T	0.64296	-0.6441	10	0.40728	T	0.16	.	10.2369	0.43288	0.1679:0.0:0.8321:0.0	.	165	P54296	MYOM2_HUMAN	I	165	ENSP00000262113:V165I	ENSP00000262113:V165I	V	+	1	0	MYOM2	1993238	1.000000	0.71417	0.969000	0.41365	0.989000	0.77384	3.613000	0.54152	0.432000	0.26286	0.561000	0.74099	GTC		0.597	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1		NM_003970	
N4BP2L2	10443	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	33016602	33016602	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr13:33016602C>G	ENST00000504114.1	-	6	2118	c.2027G>C	c.(2026-2028)cGt>cCt	p.R676P	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.R594P|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.R691P|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.R676P			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.R691P(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CTCAAGGGAACGGTAGTCAGT	0.398																																																	1	Substitution - Missense(1)	kidney(1)											64.0	64.0	64.0					13																	33016602		1898	4148	6046	SO:0001583	missense	10443			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.2027G>C	13.37:g.33016602C>G	ENSP00000427477:p.Arg676Pro		A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37		.	.	.	.	.	.	.	.	.	.	C	11.59	1.682915	0.29872	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396;ENST00000446957	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.34	-10.2	0.00374	.	1.817370	0.02661	N	0.107523	T	0.69468	0.3114	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.23650	0.002;0.089;0.003;0.003;0.003	B;B;B;B;B	0.28011	0.001;0.085;0.001;0.001;0.001	T	0.62469	-0.6848	10	0.87932	D	0	5.4106	2.2566	0.04057	0.1997:0.3347:0.3048:0.1609	.	676;691;574;594;574	B4DPY1;Q92802-3;Q96KV2;Q92802-2;Q9Y3H6	.;.;.;.;.	P	574;603;676;676;691;594	ENSP00000427477:R676P;ENSP00000350104:R676P;ENSP00000382328:R691P;ENSP00000394239:R594P	ENSP00000350104:R676P	R	-	2	0	N4BP2L2;RP11-298P3.4	31914602	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.321000	0.08018	-2.212000	0.00736	-0.324000	0.08512	CGT		0.398	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1		NM_014887	
NEK1	4750	hgsc.bcm.edu;ucsc.edu	37	4	170321451	170321451	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr4:170321451delT	ENST00000439128.2	-	33	4328	c.3688delA	c.(3688-3690)attfs	p.I1230fs	NEK1_ENST00000510533.1_Frame_Shift_Del_p.I1186fs|NEK1_ENST00000511633.1_Frame_Shift_Del_p.I1214fs|NEK1_ENST00000512193.1_Frame_Shift_Del_p.I1161fs|NEK1_ENST00000507142.1_Frame_Shift_Del_p.I1258fs	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1230					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TTTCCCAAAATATTTTGAACT	0.299																																																	0													41.0	37.0	38.0					4																	170321451		1799	4051	5850	SO:0001589	frameshift_variant	4750			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.3688delA	4.37:g.170321451delT	ENSP00000408020:p.Ile1230fs		G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Frame_Shift_Del	DEL	ENST00000439128.2	37	CCDS47162.1																																																																																				0.299	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			
NOS2	4843	broad.mit.edu	37	17	26087758	26087758	+	Silent	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr17:26087758G>A	ENST00000313735.6	-	24	3134	c.2901C>T	c.(2899-2901)ttC>ttT	p.F967F		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	967	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.F967F(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CGGGGAGGTGGAAGCCGCTGG	0.657											OREG0024268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2901C>T	17.37:g.26087758G>A		784	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	2.148	-0.395082	0.04899	.	.	ENSG00000007171	ENST00000302153	.	.	.	4.59	3.62	0.41486	.	.	.	.	.	T	0.71134	0.3304	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73122	-0.4082	5	0.62326	D	0.03	.	11.7671	0.51937	0.0863:0.0:0.9137:0.0	.	.	.	.	F	687	.	ENSP00000305638:S687F	S	-	2	0	NOS2	23111885	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	6.748000	0.74877	0.948000	0.37687	0.449000	0.29647	TCC		0.657	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1		NM_000625	
PIP4K2B	8396	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	36943164	36943164	+	Silent	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr17:36943164G>A	ENST00000269554.3	-	2	649	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	57	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)	p.L57L(1)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						ACATTGCTCAGCTCATTGATC	0.453																																																	1	Substitution - coding silent(1)	kidney(1)											229.0	195.0	207.0					17																	36943164		2203	4300	6503	SO:0001819	synonymous_variant	8396			U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.169C>T	17.37:g.36943164G>A			Q5U0E8|Q8TBP2	Silent	SNP	ENST00000269554.3	37	CCDS11329.1																																																																																				0.453	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1		NM_003559	
PPP4R1	9989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	9570186	9570186	+	Silent	SNP	T	T	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr18:9570186T>A	ENST00000400556.3	-	11	1615	c.1542A>T	c.(1540-1542)ctA>ctT	p.L514L	PPP4R1_ENST00000400555.3_Silent_p.L497L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	514					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)	p.L514L(1)		large_intestine(1)|skin(2)	3						TGTGGGGCTCTAGATTTTCTA	0.393																																					Melanoma(188;1232 2082 5061 11948 35994)												1	Substitution - coding silent(1)	kidney(1)											125.0	119.0	121.0					18																	9570186		1843	4089	5932	SO:0001819	synonymous_variant	9989			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1542A>T	18.37:g.9570186T>A			Q99774|Q9UNQ7	Silent	SNP	ENST00000400556.3	37	CCDS42412.1																																																																																				0.393	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1		NM_005134	
PSD2	84249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	139217290	139217290	+	Silent	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr5:139217290G>A	ENST00000274710.3	+	12	1951	c.1746G>A	c.(1744-1746)agG>agA	p.R582R		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	582	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.R582R(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCCACCAGGGCCTCTGACT	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											93.0	76.0	82.0					5																	139217290		2203	4300	6503	SO:0001819	synonymous_variant	84249			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1746G>A	5.37:g.139217290G>A			D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	CCDS4216.1																																																																																				0.587	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1		NM_032289	
PTCHD3	374308	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	27702183	27702183	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr10:27702183G>T	ENST00000438700.3	-	1	1114	c.997C>A	c.(997-999)Cct>Act	p.P333T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	333					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.P333A(1)|p.P333T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCGTACTCAGGGTCCTCGGTC	0.522																																																	2	Substitution - Missense(2)	kidney(1)|pancreas(1)											116.0	118.0	117.0					10																	27702183		2203	4300	6503	SO:0001583	missense	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.997C>A	10.37:g.27702183G>T	ENSP00000417658:p.Pro333Thr		I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241875	0.22796	.	.	ENSG00000182077	ENST00000438700	D	0.84873	-1.91	3.89	-5.55	0.02536	.	4.757190	0.00166	N	0.000015	T	0.81805	0.4900	L	0.46157	1.445	0.09310	N	1	B	0.30727	0.292	B	0.38655	0.278	T	0.69202	-0.5207	10	0.33141	T	0.24	16.7405	8.4069	0.32621	0.0:0.2273:0.4098:0.363	.	333	Q3KNS1	PTHD3_HUMAN	T	333	ENSP00000417658:P333T	ENSP00000417658:P333T	P	-	1	0	PTCHD3	27742189	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.433000	0.06948	-0.911000	0.03843	0.561000	0.74099	CCT		0.522	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3		XM_370541	
PTP4A2	8073	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	32377374	32377374	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:32377374C>T	ENST00000602725.1	-	3	660	c.243G>A	c.(241-243)tgG>tgA	p.W81*	RP11-84A19.4_ENST00000602889.1_lincRNA|AL136115.1_ENST00000391369.1_5'Flank|PTP4A2_ENST00000356536.3_Intron|PTP4A2_ENST00000457805.2_Nonsense_Mutation_p.W50*|PTP4A2_ENST00000344035.6_Nonsense_Mutation_p.W81*|PTP4A2_ENST00000470404.1_Intron			Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	81	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)	p.W81*(1)		kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				ACAGGTTTAACCAATCATCTA	0.388																																																	1	Substitution - Nonsense(1)	kidney(1)											97.0	88.0	91.0					1																	32377374		2203	4300	6503	SO:0001587	stop_gained	8073			L48723	CCDS348.1, CCDS53292.1, CCDS59193.1	1p35	2011-06-09			ENSG00000184007	ENSG00000184007		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9635	protein-coding gene	gene with protein product		601584		PTP4A		8661118, 9514946	Standard	NM_080391		Approved	HU-PP-1, PTPCAAX2, OV-1, ptp-IV1a, PRL-2	uc001bty.2	Q12974	OTTHUMG00000003801	ENST00000602725.1:c.243G>A	1.37:g.32377374C>T	ENSP00000473259:p.Trp81*		A8K9I8|B4DM39|D3DPP0|E9PGJ6|O00649|Q15197|Q15259|Q15260|Q15261|R4GN50	Nonsense_Mutation	SNP	ENST00000602725.1	37	CCDS348.1	.	.	.	.	.	.	.	.	.	.	C	46	12.350044	0.99659	.	.	ENSG00000184007	ENST00000344035;ENST00000457805	.	.	.	4.99	4.99	0.66335	.	0.056069	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.4981	18.2385	0.89958	0.0:1.0:0.0:0.0	.	.	.	.	X	81;50	.	ENSP00000344909:W81X	W	-	3	0	PTP4A2	32149961	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.772000	0.85439	2.489000	0.83994	0.655000	0.94253	TGG		0.388	PTP4A2-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468092.1		NM_080391	
RASGRF1	5923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	79264229	79264229	+	Silent	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr15:79264229G>A	ENST00000419573.3	-	27	3982	c.3708C>T	c.(3706-3708)taC>taT	p.Y1236Y	RASGRF1_ENST00000558480.2_Silent_p.Y1220Y|RASGRF1_ENST00000394745.3_Silent_p.Y452Y	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1236	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y1236Y(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCTCTATTTTGTAGGCAGTTT	0.493																																																	1	Substitution - coding silent(1)	kidney(1)											306.0	245.0	266.0					15																	79264229		2196	4293	6489	SO:0001819	synonymous_variant	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3708C>T	15.37:g.79264229G>A			F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	CCDS10309.1																																																																																				0.493	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3		NM_002891	
RBM17	84991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	6143320	6143320	+	Silent	SNP	C	C	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr10:6143320C>T	ENST00000446108.1	+	3	854	c.210C>T	c.(208-210)gaC>gaT	p.D70D	RBM17_ENST00000379888.4_Silent_p.D70D	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	70					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.D70D(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AAATTGTGGACACTCCACCGC	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											67.0	57.0	60.0					10																	6143320		2203	4300	6503	SO:0001819	synonymous_variant	84991			AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.210C>T	10.37:g.6143320C>T			Q96GY6	Silent	SNP	ENST00000446108.1	37	CCDS7077.1																																																																																				0.512	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1		NM_032905	
RETSAT	54884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	85578126	85578126	+	Missense_Mutation	SNP	C	C	A	rs370464576		TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr2:85578126C>A	ENST00000295802.4	-	3	486	c.374G>T	c.(373-375)cGt>cTt	p.R125L	RETSAT_ENST00000263854.6_Missense_Mutation_p.R125L|RETSAT_ENST00000457495.2_Missense_Mutation_p.R64L	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	125					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)	p.R125L(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CTCTTCCATACGCCCAATGTA	0.512																																																	1	Substitution - Missense(1)	kidney(1)											66.0	67.0	67.0					2																	85578126		2203	4300	6503	SO:0001583	missense	54884			AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.374G>T	2.37:g.85578126C>A	ENSP00000295802:p.Arg125Leu		A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.20|12.20	1.866973|1.866973	0.32977|0.32977	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000295802;ENST00000263854;ENST00000457495|ENST00000409984	T;T;T|.	0.57436|.	0.4;0.4;1.95|.	6.02|6.02	-2.34|-2.34	0.06704|0.06704	.|.	0.963511|.	0.08664|.	N|.	0.912008|.	T|T	0.13415|0.13415	0.0325|0.0325	N|N	0.03983|0.03983	-0.305|-0.305	0.09310|0.09310	N|N	1|1	B;B|.	0.27559|.	0.025;0.181|.	B;B|.	0.37780|.	0.068;0.258|.	T|T	0.31998|0.31998	-0.9923|-0.9923	9|5	.|.	.|.	.|.	0.2771|0.2771	7.7762|7.7762	0.29039|0.29039	0.0:0.339:0.1158:0.5451|0.0:0.339:0.1158:0.5451	.|.	64;125|.	G5E9N3;Q6NUM9|.	.;RETST_HUMAN|.	L|L	125;125;64|64	ENSP00000295802:R125L;ENSP00000263854:R125L;ENSP00000405040:R64L|.	.|.	R|V	-|-	2|1	0|0	RETSAT|RETSAT	85431637|85431637	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.468000|0.468000	0.32798|0.32798	0.156000|0.156000	0.16382|0.16382	-0.341000|-0.341000	0.08376|0.08376	-0.136000|-0.136000	0.14681|0.14681	CGT|GTA		0.512	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1		NM_017750	
RIMS2	9699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	104933998	104933998	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr8:104933998T>C	ENST00000436393.2	+	8	1757	c.1516T>C	c.(1516-1518)Tca>Cca	p.S506P	RIMS2_ENST00000406091.3_Missense_Mutation_p.S728P|RIMS2_ENST00000507740.1_Missense_Mutation_p.S536P|RIMS2_ENST00000262231.10_Missense_Mutation_p.S583P			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	806					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.S536P(2)|p.S728P(1)|p.S811P(1)|p.S506P(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACAGTTCTTATCAGGACAACT	0.353										HNSCC(12;0.0054)																																							5	Substitution - Missense(5)	kidney(5)											147.0	133.0	137.0					8																	104933998		1852	4092	5944	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1516T>C	8.37:g.104933998T>C	ENSP00000390665:p.Ser506Pro		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	T	6.729	0.503270	0.12822	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.76839	2.19;2.68;-1.05;-1.05;-1.05;-1.05;2.63	5.85	5.85	0.93711	C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.71962	0.3402	N	0.03608	-0.345	0.80722	D	1	B;B;D;B;B;D	0.71674	0.015;0.002;0.985;0.08;0.089;0.998	B;B;D;B;B;D	0.73380	0.005;0.006;0.98;0.032;0.024;0.947	T	0.69942	-0.5008	9	0.08179	T	0.78	.	16.2291	0.82321	0.0:0.0:0.0:1.0	.	806;806;506;583;536;728	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	P	728;759;728;806;536;583;536;536;506	ENSP00000427018:S728P;ENSP00000384892:S728P;ENSP00000425205:S536P;ENSP00000262231:S583P;ENSP00000423559:S536P;ENSP00000386228:S536P;ENSP00000390665:S506P	ENSP00000262231:S583P	S	+	1	0	RIMS2	105003174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.080000	0.64437	2.238000	0.73509	0.528000	0.53228	TCA		0.353	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1		NM_001100117	
RLF	6018	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	40661376	40661376	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr1:40661376G>A	ENST00000372771.4	+	4	574	c.547G>A	c.(547-549)Gtg>Atg	p.V183M		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	183					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V183M(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAAGGAAGGGGTGTGGAAAAA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											85.0	85.0	85.0					1																	40661376		2203	4300	6503	SO:0001583	missense	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.547G>A	1.37:g.40661376G>A	ENSP00000361857:p.Val183Met		Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335752	0.41398	.	.	ENSG00000117000	ENST00000372771	T	0.18657	2.2	5.1	3.21	0.36854	.	0.237642	0.42420	N	0.000715	T	0.21227	0.0511	L	0.59436	1.845	0.29141	N	0.879002	B	0.10296	0.003	B	0.08055	0.003	T	0.14896	-1.0456	10	0.87932	D	0	-1.1574	9.7186	0.40289	0.2269:0.0:0.7731:0.0	.	183	Q13129	RLF_HUMAN	M	183	ENSP00000361857:V183M	ENSP00000361857:V183M	V	+	1	0	RLF	40433963	0.974000	0.33945	0.989000	0.46669	0.991000	0.79684	2.106000	0.41835	0.542000	0.28846	0.460000	0.39030	GTG		0.383	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1		NM_012421	
SCUBE3	222663	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	35212548	35212548	+	Silent	SNP	C	C	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr6:35212548C>T	ENST00000274938.7	+	18	2361	c.2361C>T	c.(2359-2361)agC>agT	p.S787S	SCUBE3_ENST00000394681.1_Silent_p.S803S	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.S787S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GAAACACAAGCACAGACTTTG	0.562																																																	1	Substitution - coding silent(1)	kidney(1)											143.0	136.0	139.0					6																	35212548		2203	4300	6503	SO:0001819	synonymous_variant	222663			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2361C>T	6.37:g.35212548C>T				Silent	SNP	ENST00000274938.7	37	CCDS4800.1																																																																																				0.562	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1		NM_152753	
SMC1B	27127	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	45779436	45779436	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr22:45779436T>G	ENST00000357450.4	-	12	1968	c.1969A>C	c.(1969-1971)Agt>Cgt	p.S657R	SMC1B_ENST00000404354.3_Missense_Mutation_p.S657R	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	657	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.S657R(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTTAAGTCACTTGACCCTCCA	0.363																																																	2	Substitution - Missense(2)	kidney(2)											146.0	130.0	135.0					22																	45779436		1816	4076	5892	SO:0001583	missense	27127			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1969A>C	22.37:g.45779436T>G	ENSP00000350036:p.Ser657Arg		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.102030	0.76983	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.85773	-2.03;-2.03	6.08	6.08	0.98989	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.084079	0.51477	D	0.000089	D	0.89815	0.6824	M	0.69185	2.1	0.58432	D	0.999999	D;D;D	0.69078	0.992;0.997;0.978	P;P;P	0.59115	0.852;0.686;0.686	D	0.88175	0.2867	10	0.30078	T	0.28	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	657;657;657	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	R	657	ENSP00000350036:S657R;ENSP00000385902:S657R	ENSP00000350036:S657R	S	-	1	0	SMC1B	44158100	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.759000	0.62227	2.333000	0.79357	0.533000	0.62120	AGT		0.363	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2		NM_148674	
SSPO	23145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	149485496	149485496	+	RNA	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr7:149485496G>A	ENST00000378016.2	+	0	3902							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGCCCGGGTGGCACTGCCAG	0.662																																																	0													32.0	41.0	38.0					7																	149485496		2109	4204	6313			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149485496G>A			Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																					0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				
SYTL2	54843	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	85431940	85431940	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr11:85431940G>A	ENST00000528231.1	-	8	1799	c.1522C>T	c.(1522-1524)Cct>Tct	p.P508S	SYTL2_ENST00000533892.1_5'Flank|SYTL2_ENST00000524452.1_Missense_Mutation_p.P508S|SYTL2_ENST00000359152.5_Missense_Mutation_p.P1354S|SYTL2_ENST00000528566.1_5'Flank|SYTL2_ENST00000389960.4_Missense_Mutation_p.P508S|SYTL2_ENST00000527523.1_Missense_Mutation_p.P460S|SYTL2_ENST00000529581.1_5'Flank|SYTL2_ENST00000354566.3_Missense_Mutation_p.P830S|SYTL2_ENST00000525423.1_Missense_Mutation_p.P830S|SYTL2_ENST00000389958.3_5'Flank|SYTL2_ENST00000316356.4_Missense_Mutation_p.P509S	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	508					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.P509S(1)|p.P830S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTTTTGGAAGGCATTTTCCTA	0.398																																																	2	Substitution - Missense(2)	kidney(2)											106.0	104.0	105.0					11																	85431940		2203	4299	6502	SO:0001583	missense	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1522C>T	11.37:g.85431940G>A	ENSP00000431701:p.Pro508Ser		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339302	0.81911	.	.	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525423;ENST00000530351;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T;T;T;T;T	0.51817	1.26;1.29;1.42;1.63;1.29;0.69;1.62;1.44;1.26	5.81	5.81	0.92471	.	0.254270	0.41001	D	0.000971	T	0.65333	0.2681	L	0.50333	1.59	0.48236	D	0.999619	D;P;P;D;P;D;D;D	0.89917	1.0;0.875;0.853;0.984;0.928;1.0;1.0;1.0	D;P;B;P;P;D;D;D	0.97110	0.992;0.719;0.406;0.861;0.719;1.0;0.998;1.0	T	0.59941	-0.7359	9	.	.	.	-16.5705	19.6909	0.96000	0.0:0.0:1.0:0.0	.	460;508;508;509;366;830;830;830	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15;Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;SYTL2_HUMAN;.;.;.;.;.	S	508;1354;830;509;830;249;508;460;508	ENSP00000374610:P508S;ENSP00000352065:P1354S;ENSP00000346576:P830S;ENSP00000318803:P509S;ENSP00000432694:P830S;ENSP00000435009:P249S;ENSP00000431701:P508S;ENSP00000434010:P460S;ENSP00000435238:P508S	.	P	-	1	0	SYTL2	85109588	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.389000	0.59639	2.755000	0.94549	0.650000	0.86243	CCT		0.398	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1		NM_206927	
TRAF3IP2	10758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	111912795	111912796	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr6:111912795_111912796insT	ENST00000340026.6	-	3	1115_1116	c.521_522insA	c.(520-522)aatfs	p.N174fs	TRAF3IP2_ENST00000368761.5_Frame_Shift_Ins_p.N165fs|TRAF3IP2_ENST00000392556.4_De_novo_Start_OutOfFrame|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Frame_Shift_Ins_p.N165fs			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	174	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CTGCTGAGGCATTAGGTAAACT	0.525																																																	0																																										SO:0001589	frameshift_variant	10758			AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.522dupA	6.37:g.111912797_111912797dupT	ENSP00000345984:p.Asn174fs		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Frame_Shift_Ins	INS	ENST00000340026.6	37																																																																																					0.525	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			
PRSS3P2	154754	broad.mit.edu;ucsc.edu	37	7	142481278	142481278	+	RNA	SNP	G	G	T	rs201787957		TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr7:142481278G>T	ENST00000603901.1	+	0	352					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.V118F(1)									CACACCTGCCGTCATCAATGC	0.542																																																	1	Substitution - Missense(1)	kidney(1)											209.0	145.0	165.0					7																	142481278		684	1482	2166			0					7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481278G>T				Missense_Mutation	SNP	ENST00000603901.1	37																																																																																					0.542	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1		NR_001296	
NPIPB6	728741	broad.mit.edu	37	16	28354223	28354223	+	Missense_Mutation	SNP	G	G	A	rs457403	byFrequency	TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr16:28354223G>A	ENST00000532254.1	-	7	1668	c.983C>T	c.(982-984)cCg>cTg	p.P328L	NPIPB6_ENST00000533640.1_Missense_Mutation_p.P310L	NM_001282524.1	NP_001269453.1	E9PJ23	NPIB6_HUMAN	nuclear pore complex interacting protein family, member B6	328	Pro-rich.							p.P328L(2)									GGGTGGAAGCGGGACAAAGAG	0.507													.|||	985	0.196685	0.2345	0.1037	5008	,	,		26011	0.1667		0.1054	False		,,,				2504	0.3364																2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	0				CCDS61892.1	16p11.2	2013-06-11			ENSG00000198156	ENSG00000198156			37454	protein-coding gene	gene with protein product							Standard	XM_005255741		Approved			E9PJ23	OTTHUMG00000166319	ENST00000532254.1:c.983C>T	16.37:g.28354223G>A	ENSP00000431871:p.Pro328Leu			Missense_Mutation	SNP	ENST00000532254.1	37		.	.	.	.	.	.	.	.	.	.	-	9.234	1.036621	0.19669	.	.	ENSG00000198156	ENST00000533640;ENST00000532254	T;T	0.59502	0.26;0.26	.	.	.	.	.	.	.	.	T	0.59059	0.2166	L	0.27053	0.805	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.49437	-0.8940	7	0.87932	D	0	.	.	.	.	rs457403;rs2411459	328;310	E9PJ23;E9PS57	.;.	L	310;328	ENSP00000435924:P310L;ENSP00000431871:P328L	ENSP00000431871:P328L	P	-	2	0	RP11-57A19.3	28261724	0.011000	0.17503	0.007000	0.13788	0.007000	0.05969	0.064000	0.14437	0.064000	0.16427	0.064000	0.15345	CCG		0.507	NPIPB6-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389133.1		XM_001717652	
SMG1P7	100506060	broad.mit.edu	37	16	70268080	70268080	+	RNA	SNP	T	T	C			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr16:70268080T>C	ENST00000459379.1	-	0	0																											GTCTTACTGTTGGCTAAAAGG	0.373																																																	0																																												0																															16.37:g.70268080T>C				RNA	SNP	ENST00000459379.1	37																																																																																					0.373	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
LINC01544	100996669	broad.mit.edu	37	18	59420254	59420254	+	lincRNA	DEL	T	T	-	rs12962384|rs377320671|rs386803997	byFrequency	TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr18:59420254delT	ENST00000567801.1	+	0	1543					NR_103449.1																						GAGACCAGGGTGGGCACCAAC	0.582													-|T|-|insertion	416	0.0830671	0.1936	0.0202	5008	,	,		18870	0.0694		0.006	False		,,,				2504	0.0716																0																																												0																															18.37:g.59420254delT				RNA	DEL	ENST00000567801.1	37																																																																																					0.582	RP11-1096D5.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000431618.1			
Unknown	0	broad.mit.edu	37	6	26605221	26605222	+	IGR	DEL	CA	CA	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr6:26605221_26605222delCA								ABT1 (4943 upstream) : RP11-457M11.2 (29388 downstream)																							CAAACACACCCACACACACACC	0.406																																																	0																																										SO:0001628	intergenic_variant	0																															6.37:g.26605229_26605230delCA				RNA	DEL		37																																																																																				0	0.406									
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191528	10191529	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr3:10191528_10191529insTT	ENST00000256474.2	+	3	1361_1362	c.521_522insTT	c.(520-525)aattacfs	p.Y175fs	VHL_ENST00000345392.2_Frame_Shift_Ins_p.Y134fs|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	175			Y -> D (in VHLD; type I). {ECO:0000269|PubMed:9829911}.		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.P172fs*39(2)|p.N174fs*41(1)|p.E173_R176del(1)|p.Y175fs*41(1)|p.Y175fs*28(1)|p.E173fs*26(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)		AAGCCTGAGAATTACAGGAGAC	0.53		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"""	7	Deletion - Frameshift(3)|Insertion - Frameshift(3)|Deletion - In frame(1)	kidney(7)																																								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.522_523dupTT	3.37:g.10191529_10191530dupTT	ENSP00000256474:p.Tyr175fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.530	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VPS39	23339	hgsc.bcm.edu	37	15	42500325	42500325	+	Silent	SNP	C	C	T	rs149755806	byFrequency	TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr15:42500325C>T	ENST00000348544.4	-	1	26	c.27G>A	c.(25-27)ccG>ccA	p.P9P	VPS39_ENST00000318006.5_Silent_p.P9P|RP11-546B15.1_ENST00000561800.1_RNA|RP11-546B15.1_ENST00000563846.1_RNA|VPS39_ENST00000568357.1_5'UTR			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	9					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TTTCTAGGATCGGCACTGGCT	0.677													C|||	5	0.000998403	0.0	0.0	5008	,	,		15707	0.005		0.0	False		,,,				2504	0.0																0																																										SO:0001819	synonymous_variant	23339			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.27G>A	15.37:g.42500325C>T			O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	37	CCDS10083.1																																																																																				0.677	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1		NM_015289	
WDFY3	23001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	85674870	85674870	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr4:85674870T>C	ENST00000295888.4	-	35	6126	c.5719A>G	c.(5719-5721)Att>Gtt	p.I1907V	WDFY3_ENST00000322366.6_Missense_Mutation_p.I1907V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1907					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.I1907V(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TAAGGGCGAATATTGAAGGGG	0.458																																																	1	Substitution - Missense(1)	kidney(1)											96.0	86.0	89.0					4																	85674870		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5719A>G	4.37:g.85674870T>C	ENSP00000295888:p.Ile1907Val		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	8.295	0.818621	0.16607	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.63096	-0.02;-0.02	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	L	0.29908	0.895	0.58432	D	0.999999	B	0.18968	0.032	B	0.12156	0.007	T	0.46359	-0.9197	10	0.10636	T	0.68	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1907	Q8IZQ1	WDFY3_HUMAN	V	1907	ENSP00000318466:I1907V;ENSP00000295888:I1907V	ENSP00000295888:I1907V	I	-	1	0	WDFY3	85893894	1.000000	0.71417	0.954000	0.39281	0.982000	0.71751	4.015000	0.57152	2.308000	0.77769	0.533000	0.62120	ATT		0.458	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991	
YLPM1	56252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75230717	75230717	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr14:75230717delC	ENST00000552421.1	+	1	649	c.525delC	c.(523-525)tacfs	p.Y175fs	YLPM1_ENST00000325680.7_Frame_Shift_Del_p.Y175fs|YLPM1_ENST00000238571.3_Frame_Shift_Del_p.Y175fs			P49750	YLPM1_HUMAN	YLP motif containing 1	175	Pro-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCTCTTACTACCCCCCGACCT	0.627																																																	0													47.0	54.0	52.0					14																	75230717		2052	4177	6229	SO:0001589	frameshift_variant	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.525delC	14.37:g.75230717delC	ENSP00000447921:p.Tyr175fs		P49752|Q96I64|Q9P1V7	Frame_Shift_Del	DEL	ENST00000552421.1	37																																																																																					0.627	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1		NM_019589	
ZBTB39	9880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57396861	57396861	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr12:57396861A>G	ENST00000300101.2	-	2	1926	c.1841T>C	c.(1840-1842)tTt>tCt	p.F614S		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	614					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.F614S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGTGTGGGCAAATCTTTTGCC	0.562																																																	1	Substitution - Missense(1)	kidney(1)											78.0	75.0	76.0					12																	57396861		2203	4300	6503	SO:0001583	missense	9880			AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1841T>C	12.37:g.57396861A>G	ENSP00000300101:p.Phe614Ser		A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466263	0.26335	.	.	ENSG00000166860	ENST00000300101	T	0.40225	1.04	5.18	4.04	0.47022	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71307	0.3324	H	0.94222	3.51	0.54753	D	0.999988	D	0.89917	1.0	D	0.85130	0.997	T	0.77169	-0.2686	10	0.87932	D	0	-9.4019	10.6078	0.45404	0.8383:0.1617:0.0:0.0	.	614	O15060	ZBT39_HUMAN	S	614	ENSP00000300101:F614S	ENSP00000300101:F614S	F	-	2	0	ZBTB39	55683128	1.000000	0.71417	0.988000	0.46212	0.028000	0.11728	7.335000	0.79234	0.995000	0.38917	-0.264000	0.10439	TTT		0.562	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1		NM_014830	
ZFC3H1	196441	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	72026187	72026187	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr12:72026187T>A	ENST00000378743.3	-	15	3283	c.2925A>T	c.(2923-2925)gaA>gaT	p.E975D		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	975					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E975D(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCAGGGCATATTCATATTCTA	0.378																																																	1	Substitution - Missense(1)	kidney(1)											104.0	101.0	102.0					12																	72026187		1818	4060	5878	SO:0001583	missense	196441			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.2925A>T	12.37:g.72026187T>A	ENSP00000368017:p.Glu975Asp		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.556356	0.45487	.	.	ENSG00000133858	ENST00000378743	T	0.39229	1.09	5.87	-0.63	0.11530	.	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	T	0.18903	-1.0322	10	0.33940	T	0.23	.	12.8421	0.57809	0.0:0.3793:0.0:0.6207	.	975	O60293	ZC3H1_HUMAN	D	975	ENSP00000368017:E975D	ENSP00000368017:E975D	E	-	3	2	ZFC3H1	70312454	0.892000	0.30473	0.998000	0.56505	0.995000	0.86356	-0.066000	0.11598	-0.082000	0.12640	0.477000	0.44152	GAA		0.378	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1		NM_144982	
ZMYND10	51364	broad.mit.edu;hgsc.bcm.edu	37	3	50378855	50378855	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr3:50378855C>A	ENST00000231749.3	-	12	2581	c.1309G>T	c.(1309-1311)Gac>Tac	p.D437Y	ZMYND10_ENST00000360165.3_Missense_Mutation_p.D432Y|RASSF1_ENST00000488024.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000490675.1_5'UTR|RASSF1_ENST00000359365.4_5'Flank|RASSF1_ENST00000357043.2_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	437	Interaction with LRRC6.				inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.D437Y(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTGGCTCTGTCACCCTGGGCT	0.577										TSP Lung(30;0.18)																																							1	Substitution - Missense(1)	kidney(1)											115.0	105.0	108.0					3																	50378855		2203	4300	6503	SO:0001583	missense	51364			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.1309G>T	3.37:g.50378855C>A	ENSP00000231749:p.Asp437Tyr		A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	ENST00000231749.3	37	CCDS2825.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439379	0.43326	.	.	ENSG00000004838	ENST00000231749;ENST00000360165	.	.	.	4.85	3.06	0.35304	.	0.996520	0.08144	N	0.991182	T	0.52306	0.1726	L	0.58101	1.795	0.32151	N	0.584181	B;B	0.27791	0.189;0.119	B;B	0.36335	0.222;0.032	T	0.58713	-0.7588	9	0.66056	D	0.02	-10.2246	5.3723	0.16146	0.0:0.6533:0.1655:0.1812	.	432;437	O75800-2;O75800	.;ZMY10_HUMAN	Y	437;432	.	ENSP00000231749:D437Y	D	-	1	0	ZMYND10	50353859	0.154000	0.22792	0.989000	0.46669	0.963000	0.63663	1.062000	0.30555	0.768000	0.33290	0.643000	0.83706	GAC		0.577	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1		NM_015896	
ZNF469	84627	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	88498466	88498466	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr16:88498466C>T	ENST00000437464.1	+	2	4504	c.4504C>T	c.(4504-4506)Cct>Tct	p.P1502S	ZNF469_ENST00000565624.1_Missense_Mutation_p.P1530S	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	1502	Pro-rich.				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.P1502S(1)		breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						GACGTGTCCCCCTGAACGGAC	0.567																																																	1	Substitution - Missense(1)	kidney(1)											111.0	84.0	92.0					16																	88498466		692	1591	2283	SO:0001583	missense	84627			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.4504C>T	16.37:g.88498466C>T	ENSP00000402343:p.Pro1502Ser			Missense_Mutation	SNP	ENST00000437464.1	37	CCDS45544.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429463	0.25726	.	.	ENSG00000225614	ENST00000437464	T	0.05081	3.5	4.69	-9.21	0.00678	.	.	.	.	.	T	0.02156	0.0067	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.43972	-0.9358	9	0.12103	T	0.63	.	0.9336	0.01340	0.2255:0.3364:0.2106:0.2275	.	1502	Q96JG9	ZN469_HUMAN	S	1502	ENSP00000402343:P1502S	ENSP00000402343:P1502S	P	+	1	0	ZNF469	87025967	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.538000	0.06120	-1.925000	0.01063	-0.311000	0.09066	CCT		0.567	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NG_012236	
ZNF8	7554	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58805702	58805702	+	Silent	SNP	C	C	G	rs142117860		TCGA-B0-5692-01A-11D-1534-10	TCGA-B0-5692-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1af40135-8357-40b7-b711-478633a70f97	6758416d-3232-455a-9b9f-bd0e98caceeb	g.chr19:58805702C>G	ENST00000196548.5	+	4	659	c.528C>G	c.(526-528)ctC>ctG	p.L176L	ZNF8_ENST00000608843.1_Silent_p.L176L|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	176					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L176L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		ACAAAACTCTCAGACTCAGGG	0.463																																																	1	Substitution - coding silent(1)	kidney(1)											50.0	47.0	48.0					19																	58805702		2203	4300	6503	SO:0001819	synonymous_variant	7554			M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.528C>G	19.37:g.58805702C>G			Q6PI99	Silent	SNP	ENST00000196548.5	37	CCDS12974.1																																																																																				0.463	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1		NM_021089	
