#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
PFKFB3	5209	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	6257194	6257194	+	Silent	SNP	C	C	G	rs374201933		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:6257194C>G	ENST00000379775.4	+	3	543	c.213C>G	c.(211-213)gtC>gtG	p.V71V	PFKFB3_ENST00000540253.1_Silent_p.V85V|PFKFB3_ENST00000360521.2_Silent_p.V71V|PFKFB3_ENST00000379782.3_Silent_p.V71V|PFKFB3_ENST00000317350.4_Silent_p.V71V|PFKFB3_ENST00000379789.4_Silent_p.V51V|PFKFB3_ENST00000536985.1_Silent_p.V51V|PFKFB3_ENST00000379785.1_Silent_p.V71V	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	71	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TGTTCAACGTCGGGGAGTATC	0.577																																																0													67.0	51.0	56.0					10																	6257194		2203	4300	6503	SO:0001819	synonymous_variant	5209				CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.213C>G	10.37:g.6257194C>G			B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Silent	SNP	ENST00000379775.4	37	CCDS7078.1																																																																																				0.577	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			15	43	15	43
ANXA7	310	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	75148122	75148122	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:75148122G>C	ENST00000372921.5	-	6	542	c.486C>G	c.(484-486)aaC>aaG	p.N162K	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Missense_Mutation_p.N32K	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	184					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					TAGCATCGAAGTTGGCAGCTG	0.378																																																0													110.0	106.0	107.0					10																	75148122		2203	4300	6503	SO:0001583	missense	310			J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.486C>G	10.37:g.75148122G>C	ENSP00000362012:p.Asn162Lys		Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	37	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950011	0.53186	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178	T;T;T	0.05081	3.5;3.5;3.5	5.87	3.04	0.35103	.	0.120897	0.56097	D	0.000026	T	0.03959	0.0111	N	0.08118	0	0.48901	D	0.999722	B;B;B;B;B	0.33512	0.291;0.155;0.107;0.415;0.107	B;B;B;B;B	0.35240	0.097;0.097;0.039;0.198;0.058	T	0.51710	-0.8671	10	0.62326	D	0.03	.	9.5114	0.39078	0.2305:0.0:0.7695:0.0	.	162;162;89;162;184	Q53HM8;B2R7L2;B4DWU2;P20073-2;P20073	.;.;.;.;ANXA7_HUMAN	K	162;184;32	ENSP00000362012:N162K;ENSP00000362010:N184K;ENSP00000442864:N32K	ENSP00000362010:N184K	N	-	3	2	ANXA7	74818128	1.000000	0.71417	0.968000	0.41197	0.972000	0.66771	2.612000	0.46343	0.399000	0.25367	0.650000	0.86243	AAC		0.378	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156		25	56	25	56
DLG5	9231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	79589994	79589994	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:79589994T>A	ENST00000372391.2	-	11	1995	c.1990A>T	c.(1990-1992)Att>Ttt	p.I664F	DLG5_ENST00000372388.2_Missense_Mutation_p.I664F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	664	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCATCAGCAATGCTTCCTTTG	0.542																																																0													112.0	99.0	103.0					10																	79589994		2203	4300	6503	SO:0001583	missense	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1990A>T	10.37:g.79589994T>A	ENSP00000361467:p.Ile664Phe		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	T	14.42	2.529290	0.44969	.	.	ENSG00000151208	ENST00000372391;ENST00000372388;ENST00000372392	T;T	0.27256	1.68;1.68	5.47	3.09	0.35607	PDZ/DHR/GLGF (4);	0.451871	0.16508	N	0.211341	T	0.37237	0.0996	M	0.82823	2.61	0.38615	D	0.951006	B;B;P	0.41188	0.225;0.266;0.741	B;B;P	0.44394	0.116;0.257;0.448	T	0.28618	-1.0038	10	0.54805	T	0.06	.	9.6373	0.39817	0.0:0.1338:0.0:0.8662	.	554;664;664	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	F	664;664;213	ENSP00000361467:I664F;ENSP00000361464:I664F	ENSP00000361464:I664F	I	-	1	0	DLG5	79260000	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.450000	0.44943	0.347000	0.23924	0.459000	0.35465	ATT		0.542	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			33	86	33	86
GHITM	27069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	85901358	85901358	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:85901358G>C	ENST00000372134.3	+	2	295	c.102G>C	c.(100-102)aaG>aaC	p.K34N	RP11-338I21.1_ENST00000606511.1_RNA	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	34					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CCATCACGAAGAATCAATGGC	0.448																																																0													127.0	119.0	122.0					10																	85901358		1862	4109	5971	SO:0001583	missense	27069			AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.102G>C	10.37:g.85901358G>C	ENSP00000361207:p.Lys34Asn		A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Missense_Mutation	SNP	ENST00000372134.3	37	CCDS41542.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306885	0.60305	.	.	ENSG00000165678	ENST00000372134;ENST00000538477;ENST00000436406;ENST00000339736	.	.	.	6.16	3.24	0.37175	.	0.675510	0.15403	N	0.264189	T	0.39809	0.1092	L	0.41236	1.265	0.34324	D	0.686942	B	0.21452	0.056	B	0.23419	0.046	T	0.43032	-0.9416	9	0.28530	T	0.3	-32.3412	6.1528	0.20320	0.2066:0.0:0.6621:0.1313	.	34	Q9H3K2	GHITM_HUMAN	N	34;21;34;34	.	ENSP00000342214:K34N	K	+	3	2	GHITM	85891338	0.998000	0.40836	0.381000	0.26106	0.816000	0.46133	1.587000	0.36622	0.943000	0.37553	0.650000	0.86243	AAG		0.448	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394		39	90	39	90
MUC5B	727897	hgsc.bcm.edu;broad.mit.edu	37	11	1265832	1265832	+	Silent	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:1265832C>G	ENST00000529681.1	+	31	7780	c.7722C>G	c.(7720-7722)gtC>gtG	p.V2574V	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.V2577V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2574	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|V -> A (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGAGACTGTCCACACCTCCA	0.652																																																0													117.0	139.0	131.0					11																	1265832		2073	4189	6262	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7722C>G	11.37:g.1265832C>G			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	1.913	-0.450152	0.04572	.	.	ENSG00000117983	ENST00000537836	.	.	.	2.44	2.44	0.29823	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34477	-0.9827	5	0.72032	D	0.01	.	8.3173	0.32108	0.0:1.0:0.0:0.0	.	.	.	.	C	118	.	ENSP00000440615:S118C	S	+	2	0	MUC5B	1222408	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-3.199000	0.00561	1.355000	0.45865	0.195000	0.17529	TCC		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		89	272	89	272
KIAA1549L	25758	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	33564683	33564683	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:33564683C>G	ENST00000321505.4	+	1	863	c.683C>G	c.(682-684)aCt>aGt	p.T228S	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T228S|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T228S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	228						integral component of membrane (GO:0016021)											GAAATGCCCACTCTTCCAGCA	0.522											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													79.0	78.0	78.0					11																	33564683		1941	4139	6080	SO:0001583	missense	25758			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.683C>G	11.37:g.33564683C>G	ENSP00000315295:p.Thr228Ser	841	B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	7.964	0.747589	0.15710	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.3	2.31	0.28768	.	2.000870	0.02534	N	0.093895	T	0.23611	0.0571	N	0.14661	0.345	0.09310	N	1	B;B	0.27351	0.011;0.176	B;B	0.21917	0.008;0.037	T	0.17930	-1.0353	9	0.30854	T	0.27	8.1797	6.6638	0.23029	0.0:0.6958:0.1481:0.156	.	228;228	E9PAT2;Q6ZVL6-2	.;.	S	228;228;228;68	.	ENSP00000265654:T228S	T	+	2	0	C11orf41	33521259	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.643000	0.05421	0.198000	0.20407	0.555000	0.69702	ACT		0.522	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		25	119	25	119
MS4A4A	51338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	60068530	60068530	+	Splice_Site	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:60068530G>C	ENST00000337908.4	+	4	477	c.387G>C	c.(385-387)ctG>ctC	p.L129L	MS4A4A_ENST00000355131.3_Splice_Site_p.L110L|MS4A4A_ENST00000395016.3_Splice_Site_p.L110L|MS4A4A_ENST00000532114.1_Splice_Site_p.L129L	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	129						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CAAAAGGCCTGGTGAGTAATA	0.299																																																0													65.0	66.0	66.0					11																	60068530		2203	4298	6501	SO:0001630	splice_region_variant	51338			AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.387+1G>C	11.37:g.60068530G>C			Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Splice_Site	SNP	ENST00000337908.4	37	CCDS7982.1																																																																																				0.299	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2		Silent	10	15	10	15
PTGDR2	11251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	60620596	60620596	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:60620596G>C	ENST00000332539.4	-	2	711	c.600C>G	c.(598-600)aaC>aaG	p.N200K	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	200					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	CCTGCCGCGAGTTGCACGTGG	0.667																																																0													25.0	29.0	28.0					11																	60620596		2203	4299	6502	SO:0001583	missense	11251			AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"""CD molecules"", ""GPCR / Class A : Prostanoid receptors"""	4502	protein-coding gene	gene with protein product	"""chemoattractant receptor homologous molecule expressed on T helper type 2 cells"""	604837	"""G protein-coupled receptor 44"""	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.600C>G	11.37:g.60620596G>C	ENSP00000332812:p.Asn200Lys		O94765|Q4QRI6	Missense_Mutation	SNP	ENST00000332539.4	37	CCDS7994.1	.	.	.	.	.	.	.	.	.	.	G	0.177	-1.066324	0.01934	.	.	ENSG00000183134	ENST00000332539	T	0.36699	1.24	4.74	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.643439	0.16112	N	0.229080	T	0.17152	0.0412	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.12156	0.007	T	0.13683	-1.0500	10	0.09338	T	0.73	.	11.1037	0.48190	0.11:0.0:0.89:0.0	.	200	Q9Y5Y4	GPR44_HUMAN	K	200	ENSP00000332812:N200K	ENSP00000332812:N200K	N	-	3	2	GPR44	60377172	0.034000	0.19679	0.481000	0.27354	0.791000	0.44710	1.838000	0.39211	2.187000	0.69744	0.511000	0.50034	AAC		0.667	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396328.1	NM_004778		9	25	9	25
NAA40	79829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	63721927	63721927	+	Silent	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:63721927G>C	ENST00000377793.4	+	8	791	c.690G>C	c.(688-690)ggG>ggC	p.G230G	NAA40_ENST00000456907.2_Silent_p.G190G|NAA40_ENST00000539656.1_Silent_p.G117G|NAA40_ENST00000542163.1_Silent_p.G209G	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	230					lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						ACGCGGGTGGGCACTGTGGTG	0.582																																																0													47.0	49.0	48.0					11																	63721927		2201	4297	6498	SO:0001819	synonymous_variant	79829			AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"""N(alpha)-acetyltransferase subunits"""	25845	protein-coding gene	gene with protein product			"""N-acetyltransferase 11"", ""N-acetyltransferase 11 (GCN5-related, putative)"", ""N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"""	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.690G>C	11.37:g.63721927G>C			B4DR03|B4DU10|Q5HYL5|Q9H897	Silent	SNP	ENST00000377793.4	37	CCDS8053.1																																																																																				0.582	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	NM_024771		13	87	13	87
DDI1	414301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	103908169	103908169	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:103908169G>C	ENST00000302259.3	+	1	862	c.619G>C	c.(619-621)Gat>Cat	p.D207H	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	207							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CGACCCACTGGATCGGGAAGC	0.502																																																0													69.0	78.0	75.0					11																	103908169		2202	4299	6501	SO:0001583	missense	414301				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.619G>C	11.37:g.103908169G>C	ENSP00000302805:p.Asp207His		Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159137	0.38119	.	.	ENSG00000170967	ENST00000302259	T	0.28895	1.59	4.96	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.89353	3.025	0.51012	D	0.999905	D	0.89917	1.0	D	0.91635	0.999	T	0.64647	-0.6358	10	0.87932	D	0	-9.9383	11.1545	0.48480	0.092:0.0:0.908:0.0	.	207	Q8WTU0	DDI1_HUMAN	H	207	ENSP00000302805:D207H	ENSP00000302805:D207H	D	+	1	0	DDI1	103413379	1.000000	0.71417	0.155000	0.22561	0.002000	0.02628	7.203000	0.77864	2.745000	0.94114	0.655000	0.94253	GAT		0.502	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		64	97	64	97
CD163L1	283316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	7526162	7526162	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:7526162C>T	ENST00000313599.3	-	14	3541	c.3484G>A	c.(3484-3486)Ggg>Agg	p.G1162R	CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000396630.1_Missense_Mutation_p.G1162R|CD163L1_ENST00000416109.2_Missense_Mutation_p.G1172R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1162	SRCR 11. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCAGGTCCCGTTATAGAAG	0.517																																																0													139.0	146.0	143.0					12																	7526162		2203	4300	6503	SO:0001583	missense	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3484G>A	12.37:g.7526162C>T	ENSP00000315945:p.Gly1162Arg		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.423964	0.62733	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.36699	1.24;1.24;1.24	2.28	1.36	0.22044	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.33610	U	0.004740	T	0.59514	0.2199	M	0.86651	2.83	0.31273	N	0.691481	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.64127	-0.6480	10	0.87932	D	0	.	8.8761	0.35345	0.0:0.7668:0.2332:0.0	.	1172;1162	E7EVK4;Q9NR16	.;C163B_HUMAN	R	1162;1172;1162	ENSP00000315945:G1162R;ENSP00000393474:G1172R;ENSP00000379871:G1162R	ENSP00000315945:G1162R	G	-	1	0	CD163L1	7417429	0.688000	0.27680	0.002000	0.10522	0.521000	0.34408	2.581000	0.46077	0.497000	0.27926	0.557000	0.71058	GGG		0.517	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		150	219	150	219
HEBP1	50865	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	13128274	13128274	+	Missense_Mutation	SNP	G	G	A	rs76698360		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:13128274G>A	ENST00000014930.4	-	4	696	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	RP11-392P7.6_ENST00000545914.1_RNA|HEBP1_ENST00000540916.1_5'UTR|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	180					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TCATTGCGCCGTCCGTAGGGC	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19484	0.0		0.0	False		,,,				2504	0.0															0								G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	140.0	115.0	123.0		538	3.8	1.0	12	dbSNP_133	123	0,8600		0,0,4300	no	missense	HEBP1	NM_015987.4	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	180/190	13128274	2,13004	2203	4300	6503	SO:0001583	missense	50865			AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.538C>T	12.37:g.13128274G>A	ENSP00000014930:p.Arg180Trp		A8K1G2|Q9Y5Z5	Missense_Mutation	SNP	ENST00000014930.4	37	CCDS31749.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.3	3.975341	0.74360	4.54E-4	0.0	ENSG00000013583	ENST00000014930	T	0.38240	1.15	4.76	3.8	0.43715	Regulatory factor, effector, bacterial (1);	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66300	-0.5958	10	0.87932	D	0	-19.0835	10.2767	0.43515	0.0:0.0:0.6658:0.3342	.	180	Q9NRV9	HEBP1_HUMAN	W	180	ENSP00000014930:R180W	ENSP00000014930:R180W	R	-	1	2	HEBP1	13019541	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	2.245000	0.43133	2.625000	0.88918	0.655000	0.94253	CGG		0.587	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			42	137	42	137
CCDC91	55297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	28544295	28544295	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:28544295C>G	ENST00000545336.1	+	11	1132	c.713C>G	c.(712-714)tCt>tGt	p.S238C	CCDC91_ENST00000381256.1_Intron|CCDC91_ENST00000381259.1_Missense_Mutation_p.S238C|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Missense_Mutation_p.S208C|CCDC91_ENST00000539107.1_Intron			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	238	Homodimerization.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S238F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					CAGTACATTTCTGCAATTGAG	0.368																																																1	Substitution - Missense(1)	lung(1)											92.0	90.0	91.0					12																	28544295		2203	4300	6503	SO:0001583	missense	55297			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.713C>G	12.37:g.28544295C>G	ENSP00000438040:p.Ser238Cys		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491898	0.44352	.	.	ENSG00000123106	ENST00000540794;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000306172	T;T;T;T;T;T	0.55588	0.51;1.41;1.41;1.41;1.41;1.4	5.16	4.26	0.50523	.	0.359356	0.22352	N	0.061199	T	0.34716	0.0907	N	0.19112	0.55	0.26124	N	0.980515	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.24190	-1.0167	10	0.59425	D	0.04	.	7.0445	0.25038	0.0:0.7255:0.1778:0.0967	.	238;208	Q7Z6B0;Q7Z6B0-2	CCD91_HUMAN;.	C	34;238;238;238;238;208	ENSP00000441714:S34C;ENSP00000445660:S238C;ENSP00000438040:S238C;ENSP00000442544:S238C;ENSP00000370658:S238C;ENSP00000305075:S208C	ENSP00000305075:S208C	S	+	2	0	CCDC91	28435562	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	2.460000	0.45031	1.287000	0.44583	0.650000	0.86243	TCT		0.368	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		32	60	32	60
SYT10	341359	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	33529816	33529816	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:33529816A>G	ENST00000228567.3	-	7	1817	c.1521T>C	c.(1519-1521)agT>agC	p.S507S	SYT10_ENST00000535526.1_Silent_p.S326S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	507					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GACTATCAAAACTGGTCGCCC	0.413																																																0													123.0	120.0	121.0					12																	33529816		2203	4300	6503	SO:0001819	synonymous_variant	341359			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1521T>C	12.37:g.33529816A>G			Q495U2	Silent	SNP	ENST00000228567.3	37	CCDS8732.1																																																																																				0.413	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		38	74	38	74
MYF5	4617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	81111280	81111280	+	Silent	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:81111280T>C	ENST00000228644.3	+	1	590	c.438T>C	c.(436-438)taT>taC	p.Y146Y		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	146					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AGAACTACTATAGCCTGCCGG	0.577																																																0													117.0	124.0	122.0					12																	81111280		2203	4300	6503	SO:0001819	synonymous_variant	4617				CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.438T>C	12.37:g.81111280T>C			Q6ISR9	Silent	SNP	ENST00000228644.3	37	CCDS9020.1																																																																																				0.577	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		114	187	114	187
PLBD2	196463	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	113824841	113824843	+	Missense_Mutation	TNP	CCG	CCG	TTT			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824841_113824843CCG>TTT	ENST00000280800.3	+	10	1417_1419	c.1386_1388CCG>TTT	c.(1384-1389)ttCCGg>ttTTTg	p.R463L	PLBD2_ENST00000545182.2_Missense_Mutation_p.R431L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	463					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.R463R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCCAGATCTTCCGGCGGAACCAG	0.606																																																1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001583	missense	196463			BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1386_1388CCG>TTT	12.37:g.113824841CCG>TTT	ENSP00000280800:p.Arg463Leu		F5H5E2	Silent|Missense_Mutation|Missense_Mutation	SNP	ENST00000280800.3	37	CCDS9168.1																																																																																				0.606	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		18	187|185|181	18	181
ATP12A	479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	25268628	25268628	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:25268628C>T	ENST00000381946.3	+	11	1591	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	ATP12A_ENST00000218548.6_Missense_Mutation_p.S481L			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	475					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TTAAAATTCTCAGAGGTCATT	0.353											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(156;1582 1935 18898 22665 26498)											0													117.0	127.0	123.0					13																	25268628		2203	4300	6503	SO:0001583	missense	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1424C>T	13.37:g.25268628C>T	ENSP00000371372:p.Ser475Leu	777	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078626	0.76528	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.77877	-1.13;-1.13	5.55	5.55	0.83447	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.090669	0.48286	D	0.000200	T	0.72534	0.3472	N	0.04787	-0.16	0.46376	D	0.999018	B;P	0.37573	0.015;0.6	B;P	0.50314	0.087;0.637	T	0.77091	-0.2716	10	0.54805	T	0.06	.	17.0052	0.86391	0.0:1.0:0.0:0.0	.	481;475	P54707-2;P54707	.;AT12A_HUMAN	L	481;475	ENSP00000218548:S481L;ENSP00000371372:S475L	ENSP00000218548:S481L	S	+	2	0	ATP12A	24166628	0.998000	0.40836	1.000000	0.80357	0.952000	0.60782	3.563000	0.53784	2.620000	0.88729	0.563000	0.77884	TCA		0.353	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		58	88	58	88
KL	9365	hgsc.bcm.edu;broad.mit.edu	37	13	33591133	33591133	+	Silent	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:33591133G>C	ENST00000380099.3	+	1	563	c.555G>C	c.(553-555)gtG>gtC	p.V185V	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	185	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGCTGGGCGTGCAGCCCGTGG	0.736																																																0													6.0	7.0	7.0					13																	33591133		2022	4023	6045	SO:0001819	synonymous_variant	9365			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.555G>C	13.37:g.33591133G>C			Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	CCDS9347.1																																																																																				0.736	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			8	6	8	6
LIG4	3981	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	108861247	108861247	+	Silent	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:108861247T>C	ENST00000356922.4	-	2	2642	c.2370A>G	c.(2368-2370)gaA>gaG	p.E790E	LIG4_ENST00000442234.1_Silent_p.E790E|LIG4_ENST00000405925.1_Silent_p.E790E	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	790					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AAGCCATTTCTTCAGGAGTCT	0.388								Non-homologous end-joining																																								0													58.0	59.0	59.0					13																	108861247		2203	4300	6503	SO:0001819	synonymous_variant	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2370A>G	13.37:g.108861247T>C			Q8IY66|Q8TEU5	Silent	SNP	ENST00000356922.4	37	CCDS9508.1																																																																																				0.388	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		18	36	18	36
ATP10A	57194	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	25940187	25940187	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:25940187G>C	ENST00000356865.6	-	14	2978	c.2867C>G	c.(2866-2868)tCt>tGt	p.S956C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	956					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGGGCAGAGAGAGGAGAACCT	0.607																																																0													131.0	118.0	122.0					15																	25940187		2203	4300	6503	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2867C>G	15.37:g.25940187G>C	ENSP00000349325:p.Ser956Cys		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289387	0.40494	.	.	ENSG00000206190	ENST00000356865	D	0.83075	-1.68	4.54	3.62	0.41486	HAD-like domain (1);	0.361824	0.35436	N	0.003209	D	0.84597	0.5507	L	0.60455	1.87	0.09310	N	0.999991	P	0.48911	0.917	P	0.51918	0.684	T	0.77619	-0.2520	10	0.59425	D	0.04	-3.0809	12.5781	0.56375	0.0807:0.0:0.9193:0.0	.	956	O60312	AT10A_HUMAN	C	956	ENSP00000349325:S956C	ENSP00000349325:S956C	S	-	2	0	ATP10A	23491280	0.984000	0.35163	0.013000	0.15412	0.317000	0.28152	4.355000	0.59424	1.138000	0.42230	-0.251000	0.11542	TCT		0.607	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		29	131	29	131
PDCD7	10081	hgsc.bcm.edu;broad.mit.edu	37	15	65425278	65425278	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:65425278C>G	ENST00000204549.4	-	1	896	c.842G>C	c.(841-843)tGt>tCt	p.C281S		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	281					apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						CTCCTGCACACACTTCACCCT	0.667																																																0													60.0	58.0	59.0					15																	65425278		2202	4299	6501	SO:0001583	missense	10081			AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"""U11/U12 snRNP 59K"""	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.842G>C	15.37:g.65425278C>G	ENSP00000204549:p.Cys281Ser		Q96AK8|Q9Y6D7	Missense_Mutation	SNP	ENST00000204549.4	37	CCDS10201.1	.	.	.	.	.	.	.	.	.	.	c	19.39	3.819211	0.71028	.	.	ENSG00000090470	ENST00000204549;ENST00000431964;ENST00000380204	.	.	.	3.2	3.2	0.36748	.	0.229150	0.39909	N	0.001237	T	0.61185	0.2327	M	0.63428	1.95	0.38644	D	0.951671	D	0.56968	0.978	P	0.50659	0.647	T	0.64071	-0.6493	9	0.23891	T	0.37	-12.1772	14.5046	0.67743	0.0:1.0:0.0:0.0	.	281	Q8N8D1	PDCD7_HUMAN	S	281;66;75	.	ENSP00000204549:C281S	C	-	2	0	PDCD7	63212331	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.988000	0.56951	1.772000	0.52199	0.306000	0.20318	TGT		0.667	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256784.2	NM_005707		4	82	4	82
PEAK1	79834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	77407234	77407234	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:77407234G>C	ENST00000560626.2	-	7	4980	c.4505C>G	c.(4504-4506)tCt>tGt	p.S1502C	PEAK1_ENST00000312493.4_Missense_Mutation_p.S1502C			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1502	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTCAAGACCAGAGCATAGCTG	0.542																																																0													61.0	63.0	63.0					15																	77407234		2064	4201	6265	SO:0001583	missense	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4505C>G	15.37:g.77407234G>C	ENSP00000452796:p.Ser1502Cys		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534994	0.45073	.	.	ENSG00000173517	ENST00000312493	T	0.67523	-0.27	5.03	4.11	0.48088	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.303995	0.26457	U	0.024279	T	0.76307	0.3969	M	0.70595	2.14	0.24754	N	0.992966	D	0.76494	0.999	D	0.65323	0.934	T	0.67597	-0.5630	10	0.72032	D	0.01	-4.5434	8.1831	0.31322	0.0863:0.3013:0.6124:0.0	.	1502	Q9H792	PEAK1_HUMAN	C	1502	ENSP00000309230:S1502C	ENSP00000309230:S1502C	S	-	2	0	AC087465.1	75194289	1.000000	0.71417	0.966000	0.40874	0.920000	0.55202	3.220000	0.51207	1.110000	0.41699	0.561000	0.74099	TCT		0.542	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			35	51	35	51
CHSY1	22856	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	101718744	101718744	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:101718744C>T	ENST00000254190.3	-	3	1733	c.1258G>A	c.(1258-1260)Gcc>Acc	p.A420T	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	420					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGGTCTTGGCGTTGGCATTG	0.577																																																0													81.0	78.0	79.0					15																	101718744		2203	4300	6503	SO:0001583	missense	22856			AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1258G>A	15.37:g.101718744C>T	ENSP00000254190:p.Ala420Thr		Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977121	0.92982	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.16073	2.37	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.29389	0.0732	L	0.56769	1.78	0.80722	D	1	D	0.57899	0.981	P	0.51055	0.657	T	0.01071	-1.1461	10	0.18710	T	0.47	-51.8735	20.063	0.97692	0.0:1.0:0.0:0.0	.	420	Q86X52	CHSS1_HUMAN	T	420;148	ENSP00000254190:A420T	ENSP00000254190:A420T	A	-	1	0	CHSY1	99536267	1.000000	0.71417	0.986000	0.45419	0.912000	0.54170	7.627000	0.83176	2.735000	0.93741	0.655000	0.94253	GCC		0.577	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		24	81	24	81
PRR35	146325	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	615104	615104	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:615104G>C	ENST00000409413.3	+	3	1792	c.1513G>C	c.(1513-1515)Ggc>Cgc	p.G505R	PIGQ_ENST00000409527.2_5'Flank|NHLRC4_ENST00000540585.1_5'Flank|NHLRC4_ENST00000424439.2_5'Flank	NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		505										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CGGCATGCTGGGCCCTGCAGC	0.741																																																0													10.0	13.0	12.0					16																	615104		1905	4092	5997	SO:0001583	missense	0																														ENST00000409413.3:c.1513G>C	16.37:g.615104G>C	ENSP00000386499:p.Gly505Arg		B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258336	0.59321	.	.	ENSG00000161992	ENST00000409413	.	.	.	4.16	1.02	0.19986	.	0.780131	0.10672	U	0.647458	T	0.48484	0.1502	L	0.47716	1.5	0.09310	N	1	D	0.61697	0.99	P	0.57152	0.814	T	0.36962	-0.9726	9	0.48119	T	0.1	.	9.6678	0.39994	0.2148:0.0:0.7852:0.0	.	505	P0CG20	CP011_HUMAN	R	505	.	ENSP00000386499:G505R	G	+	1	0	C16orf11	555105	0.598000	0.26882	0.464000	0.27143	0.062000	0.15995	0.905000	0.28504	0.407000	0.25591	0.491000	0.48974	GGC		0.741	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			23	33	23	33
TSC2	7249	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	2138115	2138115	+	Missense_Mutation	SNP	C	C	G	rs137854136|rs137854196|rs45517394		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:2138115C>G	ENST00000219476.3	+	40	5765	c.5135C>G	c.(5134-5136)gCc>gGc	p.A1712G	MIR1225_ENST00000408729.1_RNA|TSC2_ENST00000353929.4_Missense_Mutation_p.A1669G|TSC2_ENST00000439673.2_Missense_Mutation_p.A1609G|TSC2_ENST00000382538.6_Missense_Mutation_p.A1597G|TSC2_ENST00000568454.1_Missense_Mutation_p.A1656G|TSC2_ENST00000350773.4_Missense_Mutation_p.A1689G|TSC2_ENST00000401874.2_Missense_Mutation_p.A1645G	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1712	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.		A -> E (in TSC2). {ECO:0000269|PubMed:8824881}.		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCCTTCGTGGCCCGCCAGATG	0.662			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0			GRCh37	CM961390	TSC2	M	rs45517394						92.0	86.0	88.0					16																	2138115		2198	4299	6497	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.5135C>G	16.37:g.2138115C>G	ENSP00000219476:p.Ala1712Gly		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732189	0.30684	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61;-3.61	4.51	4.51	0.55191	Rap/ran-GAP (2);	0.144445	0.46145	D	0.000311	D	0.95535	0.8549	L	0.38175	1.15	0.51012	D	0.999904	B;B;B;B;B;B;D	0.69078	0.003;0.008;0.002;0.045;0.002;0.002;0.997	B;B;B;B;B;B;D	0.77004	0.014;0.006;0.008;0.049;0.008;0.008;0.989	D	0.96428	0.9317	10	0.72032	D	0.01	-18.0467	17.2455	0.87027	0.0:1.0:0.0:0.0	.	1597;1609;1689;487;1668;1645;1712	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	G	1712;1646;1669;1609;1597;1689	ENSP00000219476:A1712G;ENSP00000248099:A1669G;ENSP00000399232:A1609G;ENSP00000371978:A1597G;ENSP00000344383:A1689G	ENSP00000219476:A1712G	A	+	2	0	TSC2	2078116	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	4.668000	0.61568	2.065000	0.61736	0.313000	0.20887	GCC		0.662	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		71	114	71	114
ZFHX3	463	hgsc.bcm.edu;broad.mit.edu	37	16	72991939	72991939	+	Silent	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:72991939G>C	ENST00000268489.5	-	2	2778	c.2106C>G	c.(2104-2106)gtC>gtG	p.V702V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	702					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTTGCAGTAGACACAGGAGC	0.597																																																0													55.0	63.0	60.0					16																	72991939		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2106C>G	16.37:g.72991939G>C			D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																				0.597	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		13	180	13	180
MAF	4094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	79633769	79633769	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:79633769C>G	ENST00000393350.1	-	1	842	c.31G>C	c.(31-33)Gac>Cac	p.D11H	MAF_ENST00000569649.1_Missense_Mutation_p.D11H|MAF_ENST00000326043.4_Missense_Mutation_p.D11H	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	11					cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GTGGGCAGGTCGGAGTTGCTC	0.612			T	IGH@	MM																																		Dom	yes		16	16q22-q23	4094	v-maf musculoaponeurotic fibrosarcoma oncogene homolog		L	0													34.0	41.0	39.0					16																	79633769		2188	4286	6474	SO:0001583	missense	4094				CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.31G>C	16.37:g.79633769C>G	ENSP00000377019:p.Asp11His		Q66I47|Q9UP93	Missense_Mutation	SNP	ENST00000393350.1	37	CCDS42198.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061108	0.36373	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	D;D	0.97731	-4.51;-4.5	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	D	0.97353	0.9134	L	0.27053	0.805	0.42344	D	0.992344	D;D	0.89917	0.999;1.0	D;D	0.72338	0.948;0.977	D	0.99218	1.0878	10	0.87932	D	0	-1.5394	16.2332	0.82358	0.0:1.0:0.0:0.0	.	11;11	O75444;O75444-1	MAF_HUMAN;.	H	11	ENSP00000327048:D11H;ENSP00000377019:D11H	ENSP00000327048:D11H	D	-	1	0	MAF	78191270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.257000	0.65473	1.891000	0.54761	0.638000	0.83543	GAC		0.612	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1			31	82	31	82
AIPL1	23746	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	6331637	6331637	+	Splice_Site	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:6331637C>T	ENST00000381129.3	-	3	546		c.e3+1		AIPL1_ENST00000576776.1_Splice_Site|AIPL1_ENST00000576307.1_Splice_Site|AIPL1_ENST00000570466.1_Splice_Site|AIPL1_ENST00000575265.1_Splice_Site|AIPL1_ENST00000571740.1_Splice_Site|AIPL1_ENST00000250087.5_Intron|AIPL1_ENST00000574506.1_Splice_Site	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1						negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CCCAGCCCCACCTGCAGCAGC	0.657																																																0													59.0	52.0	54.0					17																	6331637		2203	4300	6503	SO:0001630	splice_region_variant	23746			AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.465+1G>A	17.37:g.6331637C>T			D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Splice_Site	SNP	ENST00000381129.3	37	CCDS11075.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880445	0.72294	.	.	ENSG00000129221	ENST00000381129;ENST00000381128;ENST00000444243	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4759	0.84132	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AIPL1	6272361	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	7.426000	0.80270	2.560000	0.86352	0.561000	0.74099	.		0.657	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336	Intron	56	20	56	20
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577144	7577144	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:7577144A>G	ENST00000269305.4	-	8	983	c.794T>C	c.(793-795)cTg>cCg	p.L265P	TP53_ENST00000455263.2_Missense_Mutation_p.L265P|TP53_ENST00000445888.2_Missense_Mutation_p.L265P|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.L265P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.L265P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	265	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L265P(15)|p.0?(8)|p.L265R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.L265del(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTTCCGTCCCAGTAGATTACC	0.522		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	42	Substitution - Missense(21)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(3)|Deletion - Frameshift(3)	large_intestine(6)|lung(5)|oesophagus(5)|breast(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|upper_aerodigestive_tract(2)|stomach(2)|urinary_tract(2)|small_intestine(1)|skin(1)|eye(1)	GRCh37	CD004355|CM971505	TP53	D|M							46.0	41.0	43.0					17																	7577144		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.794T>C	17.37:g.7577144A>G	ENSP00000269305:p.Leu265Pro		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.724991	0.68959	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99878	-7.42;-7.42;-7.42;-7.42;-7.42;-7.42	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.99849	0.9930	M	0.87827	2.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.96469	0.9347	10	0.87932	D	0	-15.8832	12.9367	0.58319	1.0:0.0:0.0:0.0	.	265;265;265;265	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	265;265;265;265;265;254;133	ENSP00000352610:L265P;ENSP00000269305:L265P;ENSP00000398846:L265P;ENSP00000391127:L265P;ENSP00000391478:L265P;ENSP00000425104:L133P	ENSP00000269305:L265P	L	-	2	0	TP53	7517869	1.000000	0.71417	0.999000	0.59377	0.528000	0.34623	9.060000	0.93907	2.154000	0.67381	0.379000	0.24179	CTG		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	4	27	4
HOXB5	3215	hgsc.bcm.edu;broad.mit.edu	37	17	46669799	46669799	+	Silent	SNP	C	C	G	rs556018585		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:46669799C>G	ENST00000239151.5	-	2	860	c.582G>C	c.(580-582)ggG>ggC	p.G194G	HOXB3_ENST00000498678.1_5'Flank|HOXB3_ENST00000460160.1_5'Flank|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB3_ENST00000472863.1_5'Flank|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB3_ENST00000476342.1_5'Flank|HOXB-AS3_ENST00000474040.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	194					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						GGGCCCTTTTCCCGTCCGGCC	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		12231	0.0		0.001	False		,,,				2504	0.0															0													46.0	47.0	46.0					17																	46669799		2203	4300	6503	SO:0001819	synonymous_variant	3215				CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"""Homeoboxes / ANTP class : HOXL subclass"""	5116	protein-coding gene	gene with protein product		142960	"""homeo box B5"""	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.582G>C	17.37:g.46669799C>G			B2RC69|P09069|Q17RP4	Silent	SNP	ENST00000239151.5	37	CCDS11530.1																																																																																				0.632	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2			41	50	41	50
ABCA6	23460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	67111542	67111542	+	Silent	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:67111542A>G	ENST00000284425.2	-	12	1755	c.1581T>C	c.(1579-1581)ctT>ctC	p.L527L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	527	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACAATCCATTAAGAATATTTA	0.368																																																0													103.0	102.0	102.0					17																	67111542		2203	4300	6503	SO:0001819	synonymous_variant	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1581T>C	17.37:g.67111542A>G			Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	CCDS11683.1																																																																																				0.368	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		44	71	44	71
GPRC5C	55890	hgsc.bcm.edu;broad.mit.edu	37	17	72443103	72443103	+	Missense_Mutation	SNP	C	C	T	rs144073326		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:72443103C>T	ENST00000392627.1	+	4	2523	c.1397C>T	c.(1396-1398)gCg>gTg	p.A466V	GPRC5C_ENST00000481232.1_3'UTR|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000342648.5_Missense_Mutation_p.A106V|GPRC5C_ENST00000392629.2_Missense_Mutation_p.A433V	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	421					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AGCCACCAGGCGGCCACACCG	0.637																																																0								C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	71.0	79.0	76.0		1298,1397	-4.9	0.0	17	dbSNP_134	76	0,8600		0,0,4300	no	missense,missense	GPRC5C	NM_018653.3,NM_022036.2	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	433/454,466/487	72443103	1,13005	2203	4300	6503	SO:0001583	missense	55890			AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1397C>T	17.37:g.72443103C>T	ENSP00000376403:p.Ala466Val		B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	C	1.287	-0.608746	0.03717	2.27E-4	0.0	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T;T	0.23754	1.89;2.23	5.72	-4.93	0.03066	.	1.193380	0.05896	N	0.629163	T	0.10078	0.0247	N	0.22421	0.69	0.18873	N	0.999985	P;B;B;B	0.35011	0.48;0.004;0.004;0.007	B;B;B;B	0.23018	0.043;0.001;0.001;0.003	T	0.23297	-1.0192	10	0.09338	T	0.73	-46.4604	4.2768	0.10813	0.3474:0.302:0.0:0.3506	.	132;421;421;433	Q9NXI0;A8MXZ4;Q9NQ84;Q9NQ84-2	.;.;GPC5C_HUMAN;.	V	421;466;132;433;421	ENSP00000376403:A421V;ENSP00000376405:A433V	ENSP00000262616:A132V	A	+	2	0	GPRC5C	69954698	0.002000	0.14202	0.002000	0.10522	0.028000	0.11728	0.085000	0.14912	-1.230000	0.02561	-2.030000	0.00424	GCG		0.637	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			12	196	12	196
SALL3	27164	hgsc.bcm.edu;broad.mit.edu	37	18	76753213	76753213	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:76753213G>C	ENST00000537592.2	+	2	1222	c.1222G>C	c.(1222-1224)Gag>Cag	p.E408Q	SALL3_ENST00000536229.3_Missense_Mutation_p.E275Q|SALL3_ENST00000575389.2_Missense_Mutation_p.E408Q	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	408					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GTCGGTGTTCGAGCCCAAAGC	0.657																																																0													24.0	18.0	20.0					18																	76753213		2201	4297	6498	SO:0001583	missense	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1222G>C	18.37:g.76753213G>C	ENSP00000441823:p.Glu408Gln		Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290276	0.40494	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.10005	2.92	4.54	4.54	0.55810	.	0.000000	0.56097	D	0.000030	T	0.33876	0.0878	M	0.82716	2.605	0.58432	D	0.999998	D;D	0.67145	0.996;0.983	D;P	0.66979	0.948;0.701	T	0.16276	-1.0408	10	0.22706	T	0.39	-49.2422	17.489	0.87698	0.0:0.0:1.0:0.0	.	140;408	F5GXY4;Q9BXA9	.;SALL3_HUMAN	Q	408;408;140	ENSP00000441823:E408Q	ENSP00000299466:E408Q	E	+	1	0	SALL3	74854201	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.575000	0.98187	2.352000	0.79861	0.460000	0.39030	GAG		0.657	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		10	22	10	22
TXNL4A	10907	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	77748273	77748273	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:77748273C>G	ENST00000269601.5	-	1	320	c.120G>C	c.(118-120)aaG>aaC	p.K40N	TXNL4A_ENST00000592957.1_Intron|TXNL4A_ENST00000591711.1_Missense_Mutation_p.K40N|TXNL4A_ENST00000588162.1_Missense_Mutation_p.K40N|TXNL4A_ENST00000585474.1_Intron	NM_006701.2	NP_006692.1	P83876	TXN4A_HUMAN	thioredoxin-like 4A	40					gene expression (GO:0010467)|mitotic nuclear division (GO:0007067)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)				breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		CCTCGTCCATCTTCATGCACG	0.667																																					Ovarian(160;2333 2597 11821 36245)											0													75.0	51.0	59.0					18																	77748273		2203	4300	6503	SO:0001583	missense	10907			AF023612	CCDS32852.1	18q23	2013-07-16	2004-08-11	2004-08-12		ENSG00000141759			30551	protein-coding gene	gene with protein product	"""similar to S. pombe dim1+"""	611595	"""thioredoxin-like 4"""	TXNL4		11015569	Standard	NM_006701		Approved	U5-15kD, DIM1, HsT161, DIB1, SNRNP15	uc002lnp.3	P83876		ENST00000269601.5:c.120G>C	18.37:g.77748273C>G	ENSP00000269601:p.Lys40Asn		B2RC18|O14834	Missense_Mutation	SNP	ENST00000269601.5	37	CCDS32852.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.611034	0.28712	.	.	ENSG00000141759	ENST00000269601;ENST00000355491	.	.	.	4.45	-1.74	0.08056	Thioredoxin-like fold (2);	0.052127	0.64402	U	0.000001	T	0.63414	0.2509	M	0.75264	2.295	0.50813	D	0.999893	P;B	0.34699	0.464;0.108	B;B	0.42593	0.392;0.122	T	0.63107	-0.6711	9	0.54805	T	0.06	-19.1606	11.1691	0.48560	0.0:0.4042:0.0:0.5958	.	40;40	O14835;P83876	.;TXN4A_HUMAN	N	40	.	ENSP00000269601:K40N	K	-	3	2	TXNL4A	75849261	0.993000	0.37304	0.995000	0.50966	0.243000	0.25628	0.194000	0.17135	-0.314000	0.08716	-0.302000	0.09304	AAG		0.667	TXNL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451036.1	NM_006701		8	20	8	20
MYO1F	4542	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	8617006	8617006	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:8617006C>G	ENST00000338257.8	-	7	814	c.547G>C	c.(547-549)Gat>Cat	p.D183H	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	183	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TTGCCCCCATCTGGCTCCCCA	0.552																																																0													101.0	103.0	102.0					19																	8617006		1975	4196	6171	SO:0001583	missense	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.547G>C	19.37:g.8617006C>G	ENSP00000344871:p.Asp183His		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557587	0.65425	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.87103	-2.21	3.93	3.93	0.45458	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.91395	0.7285	M	0.71036	2.16	0.80722	D	1	P;D;D	0.64830	0.923;0.987;0.994	P;D;D	0.64687	0.796;0.928;0.928	D	0.89949	0.4078	10	0.27082	T	0.32	.	15.1284	0.72500	0.0:1.0:0.0:0.0	.	183;183;183	B4DVP3;B0I1T1;O00160	.;.;MYO1F_HUMAN	H	228;183	ENSP00000344871:D183H	ENSP00000304899:D228H	D	-	1	0	MYO1F	8523006	1.000000	0.71417	0.434000	0.26772	0.682000	0.39822	7.651000	0.83577	2.048000	0.60808	0.460000	0.39030	GAT		0.552	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			93	141	93	141
MUC16	94025	hgsc.bcm.edu;broad.mit.edu	37	19	9065338	9065338	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:9065338G>C	ENST00000397910.4	-	3	22311	c.22108C>G	c.(22108-22110)Ctt>Gtt	p.L7370V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7372	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTACTCACAAGAGTGGTTATC	0.493																																																0													87.0	91.0	90.0					19																	9065338		2020	4169	6189	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22108C>G	19.37:g.9065338G>C	ENSP00000381008:p.Leu7370Val		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	1.342	-0.593863	0.03771	.	.	ENSG00000181143	ENST00000397910	T	0.32272	1.46	2.44	-4.89	0.03103	.	.	.	.	.	T	0.17534	0.0421	L	0.27053	0.805	.	.	.	P	0.39424	0.673	B	0.38755	0.281	T	0.12630	-1.0540	8	0.87932	D	0	.	4.6962	0.12804	0.225:0.0:0.1874:0.5876	.	7370	B5ME49	.	V	7370	ENSP00000381008:L7370V	ENSP00000381008:L7370V	L	-	1	0	MUC16	8926338	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.020000	0.01441	-1.915000	0.01077	-1.568000	0.00874	CTT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	55	5	55
SIGLEC6	946	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	52034681	52034681	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:52034681G>T	ENST00000425629.3	-	2	314	c.160C>A	c.(160-162)Ccc>Acc	p.P54T	SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P54T|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.P54T|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P54T|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P54T|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	54	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGGTAGTGGGCAATCTGCAG	0.597																																																0													70.0	75.0	74.0					19																	52034681		2195	4297	6492	SO:0001583	missense	946			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.160C>A	19.37:g.52034681G>T	ENSP00000401502:p.Pro54Thr		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	G	2.554	-0.303440	0.05495	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000343300;ENST00000426829	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	2.76	-5.52	0.02560	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29620	0.0739	N	0.02802	-0.49	0.09310	N	1	B;B;B;B;B;B	0.17852	0.005;0.006;0.005;0.01;0.019;0.024	B;B;B;B;B;B	0.17433	0.001;0.005;0.003;0.018;0.005;0.004	T	0.17289	-1.0374	9	0.27082	T	0.32	.	6.1431	0.20271	0.2016:0.4493:0.3491:0.0	.	54;54;54;54;54;54	F8WA78;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	T	43;54;54;54;54;54	ENSP00000375674:P54T;ENSP00000401502:P54T;ENSP00000353071:P54T;ENSP00000345907:P54T	ENSP00000345907:P54T	P	-	1	0	SIGLEC6	56726493	0.003000	0.15002	0.000000	0.03702	0.059000	0.15707	0.071000	0.14594	-1.660000	0.01486	0.194000	0.17425	CCC		0.597	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		32	29	32	29
SRSF4	6429	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	29476672	29476672	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:29476672C>G	ENST00000373795.4	-	5	845	c.611G>C	c.(610-612)aGc>aCc	p.S204T	SRSF4_ENST00000546138.1_Intron|SRSF4_ENST00000466448.1_Intron|RP11-242O24.5_ENST00000450108.1_RNA	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	204	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TCGGCTTCTGCTCTTACGGGA	0.458																																																0													199.0	196.0	197.0					1																	29476672		2203	4300	6503	SO:0001583	missense	6429			BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.611G>C	1.37:g.29476672C>G	ENSP00000362900:p.Ser204Thr		Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	CCDS333.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819444	0.71028	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.46063	0.88	5.36	5.36	0.76844	.	0.078056	0.85682	D	0.000000	T	0.63046	0.2478	M	0.67397	2.05	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.63765	-0.6563	10	0.56958	D	0.05	.	16.6233	0.84935	0.0:1.0:0.0:0.0	.	204	Q08170	SRSF4_HUMAN	T	204	ENSP00000362900:S204T	ENSP00000362900:S204T	S	-	2	0	SRSF4	29349259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.735000	0.74806	2.668000	0.90789	0.650000	0.86243	AGC		0.458	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		19	223	19	223
MTF1	4520	hgsc.bcm.edu;broad.mit.edu	37	1	38281148	38281148	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:38281148G>C	ENST00000373036.4	-	11	2062	c.1922C>G	c.(1921-1923)tCt>tGt	p.S641C		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	641					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCCTTTGCAGAGTCCCGGCA	0.612																																																0													43.0	43.0	43.0					1																	38281148		2203	4300	6503	SO:0001583	missense	4520			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1922C>G	1.37:g.38281148G>C	ENSP00000362127:p.Ser641Cys		B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174307	0.78452	.	.	ENSG00000188786	ENST00000373036	T	0.52983	0.64	5.95	5.95	0.96441	.	0.052333	0.85682	D	0.000000	T	0.69771	0.3148	M	0.70275	2.135	0.58432	D	0.999996	D	0.89917	1.0	D	0.68192	0.956	T	0.70572	-0.4835	10	0.87932	D	0	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	641	Q14872	MTF1_HUMAN	C	641	ENSP00000362127:S641C	ENSP00000362127:S641C	S	-	2	0	MTF1	38053735	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.482000	0.81143	2.817000	0.96982	0.563000	0.77884	TCT		0.612	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		5	68	5	68
MACF1	23499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	39835815	39835815	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:39835815C>G	ENST00000372915.3	+	50	13154	c.13067C>G	c.(13066-13068)tCt>tGt	p.S4356C	MACF1_ENST00000567887.1_Missense_Mutation_p.S4388C|MACF1_ENST00000361689.2_Missense_Mutation_p.S2289C|MACF1_ENST00000564288.1_Missense_Mutation_p.S4351C|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000289893.4_Missense_Mutation_p.S2791C|MACF1_ENST00000317713.7_Missense_Mutation_p.S2289C|MACF1_ENST00000539005.1_Missense_Mutation_p.S2289C|MACF1_ENST00000545844.1_Missense_Mutation_p.S2289C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4356					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACGGAAACTTCTATGAGTGCT	0.438																																																0													70.0	70.0	70.0					1																	39835815		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13067C>G	1.37:g.39835815C>G	ENSP00000362006:p.Ser4356Cys		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.05|18.05	3.536620|3.536620	0.65085|0.65085	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.37584	.|1.19;1.19;1.19;1.19;1.19;1.19	5.37|5.37	3.04|3.04	0.35103|0.35103	.|.	.|0.519939	.|0.17436	.|N	.|0.174305	T|T	0.46171|0.46171	0.1379|0.1379	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.63046	.|0.965;0.96;0.992;0.984	.|P;P;P;P	.|0.61003	.|0.838;0.819;0.819;0.882	T|T	0.40384|0.40384	-0.9566|-0.9566	5|10	.|0.56958	.|D	.|0.05	.|.	4.8088|4.8088	0.13333|0.13333	0.0:0.5307:0.0:0.4693|0.0:0.5307:0.0:0.4693	.|.	.|4356;2289;2289;2254	.|Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	.|MACF1_HUMAN;.;.;.	L|C	1422|2289;4356;2289;2289;2289;2791	.|ENSP00000439537:S2289C;ENSP00000362006:S4356C;ENSP00000354573:S2289C;ENSP00000313438:S2289C;ENSP00000444364:S2289C;ENSP00000289893:S2791C	.|ENSP00000289893:S2791C	F|S	+|+	3|2	2|0	MACF1|MACF1	39608402|39608402	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	2.862000|2.862000	0.48388|0.48388	0.887000|0.887000	0.36136|0.36136	-0.302000|-0.302000	0.09304|0.09304	TTC|TCT		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		17	34	17	34
MACF1	23499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	39852993	39852993	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:39852993G>C	ENST00000372915.3	+	57	14581	c.14494G>C	c.(14494-14496)Gag>Cag	p.E4832Q	MACF1_ENST00000567887.1_Missense_Mutation_p.E4864Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E2765Q|MACF1_ENST00000564288.1_Missense_Mutation_p.E4827Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E3267Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E2765Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E2744Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E2765Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4832					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCAAAATTGGAGCGGCTACA	0.453																																																0													125.0	142.0	136.0					1																	39852993		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14494G>C	1.37:g.39852993G>C	ENSP00000362006:p.Glu4832Gln		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.37|11.37	1.618566|1.618566	0.28801|0.28801	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.52526|.	0.66;0.66;0.66;0.66;0.66;0.66|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.093565|.	0.46145|.	D|.	0.000308|.	T|T	0.69486|0.69486	0.3116|0.3116	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D;P;B|.	0.76494|.	0.999;0.749;0.168|.	D;B;B|.	0.75020|.	0.985;0.406;0.137|.	T|T	0.62248|0.62248	-0.6894|-0.6894	10|5	0.39692|.	T|.	0.17|.	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4832;2765;2709|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	Q|A	2765;4832;2765;2765;2744;3267|1877	ENSP00000439537:E2765Q;ENSP00000362006:E4832Q;ENSP00000354573:E2765Q;ENSP00000313438:E2765Q;ENSP00000444364:E2744Q;ENSP00000289893:E3267Q|.	ENSP00000289893:E3267Q|.	E|G	+|+	1|2	0|0	MACF1|MACF1	39625580|39625580	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.244000|0.244000	0.25665|0.25665	9.609000|9.609000	0.98334|0.98334	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		88	188	88	188
ZNF697	90874	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	120166640	120166640	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:120166640G>C	ENST00000421812.2	-	3	445	c.326C>G	c.(325-327)tCt>tGt	p.S109C		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TATGCTGTCAGACTCAGACAG	0.622																																																0													50.0	56.0	54.0					1																	120166640		2097	4227	6324	SO:0001583	missense	90874			AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.326C>G	1.37:g.120166640G>C	ENSP00000396857:p.Ser109Cys		Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	G	9.525	1.109402	0.20714	.	.	ENSG00000143067	ENST00000421812	T	0.14516	2.5	4.61	4.61	0.57282	.	.	.	.	.	T	0.04363	0.0120	L	0.27053	0.805	0.09310	N	1	P	0.39576	0.679	B	0.40702	0.338	T	0.32161	-0.9917	9	0.29301	T	0.29	.	9.0557	0.36403	0.1022:0.0:0.8978:0.0	.	109	Q5TEC3	ZN697_HUMAN	C	109	ENSP00000396857:S109C	ENSP00000396857:S109C	S	-	2	0	ZNF697	119968163	0.922000	0.31269	0.441000	0.26858	0.072000	0.16883	2.467000	0.45093	2.291000	0.77112	0.563000	0.77884	TCT		0.622	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		13	32	13	32
FMN2	56776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	240370340	240370340	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:240370340C>T	ENST00000319653.9	+	5	2458	c.2228C>T	c.(2227-2229)tCg>tTg	p.S743L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	743					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)			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)			GAGGCGAAATCGATACAGACT	0.572																																																0													52.0	51.0	52.0					1																	240370340		2203	4300	6503	SO:0001583	missense	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.2228C>T	1.37:g.240370340C>T	ENSP00000318884:p.Ser743Leu		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495253	0.26774	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T	0.48201	0.82	5.06	4.13	0.48395	.	0.000000	0.64402	D	0.000016	T	0.66346	0.2780	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	T	0.72171	-0.4371	10	0.87932	D	0	.	14.8191	0.70059	0.1451:0.8549:0.0:0.0	.	743	Q9NZ56	FMN2_HUMAN	L	180;743	ENSP00000318884:S743L	ENSP00000318884:S743L	S	+	2	0	FMN2	238436963	1.000000	0.71417	0.722000	0.30670	0.004000	0.04260	6.680000	0.74518	1.325000	0.45301	0.655000	0.94253	TCG		0.572	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		15	33	15	33
AP5S1	55317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	3802937	3802937	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:3802937C>T	ENST00000246041.2	+	2	392	c.173C>T	c.(172-174)gCc>gTc	p.A58V	AP5S1_ENST00000379567.2_Missense_Mutation_p.A58V|AP5S1_ENST00000379573.2_Missense_Mutation_p.A58V			Q9NUS5	AP5S1_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	58					double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)											TTAGCTGTGGCCAGGTAACCA	0.547																																																0													51.0	49.0	50.0					20																	3802937		2203	4300	6503	SO:0001583	missense	55317			AK002030	CCDS13070.1	20p13	2012-02-27	2012-02-27	2012-02-27	ENSG00000125843	ENSG00000125843			15875	protein-coding gene	gene with protein product		614824	"""chromosome 20 open reading frame 29"""	C20orf29		11780052, 22022230	Standard	NM_001204446		Approved	FLJ11168	uc002wjs.2	Q9NUS5	OTTHUMG00000031760	ENST00000246041.2:c.173C>T	20.37:g.3802937C>T	ENSP00000246041:p.Ala58Val		B3KSD0|D3DVY7	Missense_Mutation	SNP	ENST00000246041.2	37	CCDS13070.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985301	0.93044	.	.	ENSG00000125843	ENST00000379573;ENST00000379567;ENST00000455742;ENST00000246041	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.77558	0.4148	M	0.70275	2.135	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.79087	-0.1947	9	0.72032	D	0.01	-21.4516	14.3066	0.66389	0.0:1.0:0.0:0.0	.	58	Q9NUS5	CT029_HUMAN	V	58	.	ENSP00000246041:A58V	A	+	2	0	C20orf29	3750937	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.141000	0.58038	2.756000	0.94617	0.561000	0.74099	GCC		0.547	AP5S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077768.2	NM_018347		26	68	26	68
ZNFX1	57169	hgsc.bcm.edu;broad.mit.edu	37	20	47887262	47887262	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:47887262C>G	ENST00000396105.1	-	3	1333	c.1087G>C	c.(1087-1089)Gac>Cac	p.D363H	ZNFX1_ENST00000371754.4_Missense_Mutation_p.D363H|ZNFX1_ENST00000371752.1_Missense_Mutation_p.D363H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	363							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCAGTGCTGTCGTATTTTCCA	0.473																																																0													129.0	123.0	125.0					20																	47887262		2203	4300	6503	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1087G>C	20.37:g.47887262C>G	ENSP00000379412:p.Asp363His		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122612	0.37436	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.87334	-1.93;-2.24;-2.24;-0.86;-1.61	6.06	6.06	0.98353	.	0.320958	0.38720	N	0.001591	T	0.78923	0.4360	N	0.11560	0.145	0.29388	N	0.862843	P	0.39903	0.694	B	0.38296	0.27	T	0.76631	-0.2888	10	0.46703	T	0.11	-10.164	19.1847	0.93639	0.0:1.0:0.0:0.0	.	363	Q9P2E3	ZNFX1_HUMAN	H	363;363;363;363;363;167	ENSP00000360819:D363H;ENSP00000360817:D363H;ENSP00000379412:D363H;ENSP00000360809:D363H;ENSP00000413800:D167H	ENSP00000360809:D363H	D	-	1	0	ZNFX1	47320669	0.997000	0.39634	0.996000	0.52242	0.985000	0.73830	3.140000	0.50585	2.882000	0.98803	0.655000	0.94253	GAC		0.473	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		10	171	10	171
SON	6651	hgsc.bcm.edu;broad.mit.edu	37	21	34927038	34927038	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr21:34927038A>G	ENST00000356577.4	+	3	5976	c.5501A>G	c.(5500-5502)cAc>cGc	p.H1834R	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.H1834R|SON_ENST00000381679.4_Missense_Mutation_p.H1834R|SON_ENST00000300278.4_Missense_Mutation_p.H1834R	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1834					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCTTCTGAACACAAATCACGC	0.423																																																0													86.0	87.0	86.0					21																	34927038		2203	4300	6503	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.5501A>G	21.37:g.34927038A>G	ENSP00000348984:p.His1834Arg		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.73|10.73	1.433765|1.433765	0.25813|0.25813	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679|ENST00000436227	T;T;T;T|.	0.17054|.	2.3;2.3;2.3;2.3|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.53938|.	D|.	0.000058|.	T|T	0.22322|0.22322	0.0538|0.0538	N|N	0.08118|0.08118	0|0	0.32412|0.32412	N|N	0.550485|0.550485	B;B;B;P;D|.	0.76494|.	0.42;0.158;0.244;0.756;0.999|.	B;B;B;P;D|.	0.80764|.	0.294;0.066;0.087;0.59;0.994|.	T|T	0.27434|0.27434	-1.0074|-1.0074	10|5	0.30078|.	T|.	0.28|.	.|.	5.674|5.674	0.17737|0.17737	0.7375:0.1735:0.089:0.0|0.7375:0.1735:0.089:0.0	.|.	1834;1834;1515;1834;1834|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	R|A	1834|829	ENSP00000348984:H1834R;ENSP00000290239:H1834R;ENSP00000300278:H1834R;ENSP00000371095:H1834R|.	ENSP00000290239:H1834R|.	H|T	+|+	2|1	0|0	SON|SON	33848908|33848908	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.148000|2.148000	0.42235|0.42235	2.152000|2.152000	0.67230|0.67230	0.533000|0.533000	0.62120|0.62120	CAC|ACA		0.423	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		5	75	5	75
BRD1	23774	hgsc.bcm.edu;broad.mit.edu	37	22	50217117	50217117	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:50217117C>G	ENST00000216267.8	-	1	1335	c.849G>C	c.(847-849)aaG>aaC	p.K283N	BRD1_ENST00000404760.1_Missense_Mutation_p.K283N|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000404034.1_Missense_Mutation_p.K283N|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000457780.2_Missense_Mutation_p.K283N	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	283					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTCATCTGTCTTTTTGAAGG	0.647																																																0													55.0	52.0	53.0					22																	50217117		2203	4300	6503	SO:0001583	missense	23774			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.849G>C	22.37:g.50217117C>G	ENSP00000216267:p.Lys283Asn		A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722262	0.68959	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.13	5.13	0.70059	.	0.087241	0.85682	D	0.000000	T	0.33876	0.0878	L	0.39245	1.2	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.74674	0.96;0.984;0.933	T	0.01776	-1.1276	9	.	.	.	.	18.5709	0.91135	0.0:1.0:0.0:0.0	.	283;283;283	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	N	283	ENSP00000216267:K283N;ENSP00000384076:K283N;ENSP00000385858:K283N;ENSP00000410042:K283N	.	K	-	3	2	BRD1	48603121	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.589000	0.67523	2.388000	0.81334	0.563000	0.77884	AAG		0.647	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		8	114	8	114
PXDN	7837	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	1652144	1652144	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:1652144G>C	ENST00000252804.4	-	17	3458	c.3408C>G	c.(3406-3408)aaC>aaG	p.N1136K		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1136					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGAGCTCCGTGTTCAGCAGCT	0.652																																																0													46.0	56.0	53.0					2																	1652144		2063	4220	6283	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3408C>G	2.37:g.1652144G>C	ENSP00000252804:p.Asn1136Lys		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139591	0.56936	.	.	ENSG00000130508	ENST00000252804	T	0.67698	-0.28	5.48	3.35	0.38373	.	0.000000	0.85682	D	0.000000	T	0.79269	0.4417	M	0.84846	2.72	0.50171	D	0.999858	D	0.69078	0.997	D	0.71656	0.974	T	0.79645	-0.1717	10	0.72032	D	0.01	-57.6139	6.2788	0.20995	0.3798:0.0:0.6202:0.0	.	1136	Q92626	PXDN_HUMAN	K	1136	ENSP00000252804:N1136K	ENSP00000252804:N1136K	N	-	3	2	PXDN	1631151	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.096000	0.41738	1.330000	0.45394	0.650000	0.86243	AAC		0.652	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		22	79	22	79
UCN	7349	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	27530422	27530422	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:27530422C>G	ENST00000296099.2	-	2	640	c.342G>C	c.(340-342)caG>caC	p.Q114H		NM_003353.2	NP_003344.1	P55089	UCN1_HUMAN	urocortin	114					activation of protein kinase A activity (GO:0034199)|aerobic respiration (GO:0009060)|associative learning (GO:0008306)|drinking behavior (GO:0042756)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|inflammatory response (GO:0006954)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell size (GO:0045792)|negative regulation of feeding behavior (GO:2000252)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of gene expression (GO:0010629)|negative regulation of hormone secretion (GO:0046888)|negative regulation of necrotic cell death (GO:0060547)|negative regulation of neuron death (GO:1901215)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|pancreatic juice secretion (GO:0030157)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell growth (GO:0030307)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of translation (GO:0045727)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasodilation (GO:0045909)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|response to pain (GO:0048265)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|perikaryon (GO:0043204)|varicosity (GO:0043196)	histone deacetylase inhibitor activity (GO:0046811)|neuropeptide hormone activity (GO:0005184)			lung(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGCGGTTCTGCTCGGCGC	0.647																																																0													27.0	31.0	30.0					2																	27530422		2188	4294	6482	SO:0001583	missense	7349			AF038633	CCDS1747.1	2p23-p21	2013-02-28			ENSG00000163794	ENSG00000163794		"""Endogenous ligands"""	12516	protein-coding gene	gene with protein product	"""prepro-urocortin"""	600945				9628819, 861256	Standard	NM_003353		Approved	UROC, UI	uc002rjp.1	P55089	OTTHUMG00000097068	ENST00000296099.2:c.342G>C	2.37:g.27530422C>G	ENSP00000296099:p.Gln114His		Q6FG64	Missense_Mutation	SNP	ENST00000296099.2	37	CCDS1747.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562712	0.65538	.	.	ENSG00000163794	ENST00000296099	.	.	.	4.58	1.73	0.24493	Corticotropin-releasing factor, CRF (2);	0.208986	0.32769	N	0.005667	T	0.32194	0.0821	N	0.25647	0.755	0.35689	D	0.814711	B	0.15473	0.013	B	0.17433	0.018	T	0.15292	-1.0442	9	0.35671	T	0.21	-26.485	3.5084	0.07699	0.2007:0.5902:0.0:0.2092	.	114	P55089	UCN1_HUMAN	H	114	.	ENSP00000296099:Q114H	Q	-	3	2	UCN	27383926	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	0.630000	0.24553	0.633000	0.30452	0.561000	0.74099	CAG		0.647	UCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214184.2	NM_003353		43	55	43	55
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179615597	179615597	+	Intron	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:179615597C>G	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.A3844P|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGTATTGGCCATAATTTCT	0.373																																																0													100.0	105.0	103.0					2																	179615597		2202	4299	6501	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2253G>C	2.37:g.179615597C>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	14.25	2.478109	0.44044	.	.	ENSG00000155657	ENST00000360870	T	0.58358	0.34	5.4	0.135	0.14775	.	.	.	.	.	T	0.32941	0.0846	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21552	-1.0242	9	0.44086	T	0.13	.	9.336	0.38051	0.0:0.4602:0.0:0.5398	.	3844	Q8WZ42-6	.	P	3844	ENSP00000354117:A3844P	ENSP00000354117:A3844P	A	-	1	0	TTN	179323842	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.680000	0.25306	0.064000	0.16427	-0.345000	0.07892	GCC		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	79	27	79
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			25	41	25	41
USP40	55230	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	234434186	234434186	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:234434186T>C	ENST00000427112.2	-	13	1780	c.1745A>G	c.(1744-1746)gAc>gGc	p.D582G	USP40_ENST00000450966.1_Missense_Mutation_p.D594G|USP40_ENST00000251722.6_Missense_Mutation_p.D582G			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	582					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAGAACCATGTCTCCTTCCCA	0.373																																																0													140.0	131.0	134.0					2																	234434186		1862	4110	5972	SO:0001583	missense	55230			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1745A>G	2.37:g.234434186T>C	ENSP00000387898:p.Asp582Gly		Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516955	0.64634	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.08458	3.09;3.09;3.09	5.78	5.78	0.91487	.	2.198680	0.02077	N	0.052030	T	0.19327	0.0464	M	0.66939	2.045	0.58432	D	0.999998	B;B	0.25272	0.074;0.122	B;B	0.26094	0.03;0.066	T	0.29212	-1.0019	10	0.62326	D	0.03	.	16.1146	0.81295	0.0:0.0:0.0:1.0	.	582;594	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	G	594;582;582	ENSP00000415434:D594G;ENSP00000251722:D582G;ENSP00000387898:D582G	ENSP00000251722:D582G	D	-	2	0	USP40	234098925	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.150000	0.77403	2.200000	0.70718	0.460000	0.39030	GAC		0.373	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		30	73	30	73
COL7A1	1294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	48628163	48628163	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:48628163C>T	ENST00000328333.8	-	13	1830	c.1723G>A	c.(1723-1725)Gtg>Atg	p.V575M	COL7A1_ENST00000454817.1_Missense_Mutation_p.V575M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	575	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAGCAGACACCCGCACAGTG	0.612																																																0													137.0	105.0	116.0					3																	48628163		2203	4300	6503	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1723G>A	3.37:g.48628163C>T	ENSP00000332371:p.Val575Met		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548164	0.45383	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.74106	-0.81;-0.81	5.01	5.01	0.66863	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42294	D	0.000734	D	0.85818	0.5785	M	0.74881	2.28	0.41839	D	0.990114	D	0.89917	1.0	D	0.91635	0.999	D	0.87262	0.2280	10	0.87932	D	0	.	16.6423	0.85129	0.0:1.0:0.0:0.0	.	575	Q02388	CO7A1_HUMAN	M	575	ENSP00000332371:V575M;ENSP00000412569:V575M	ENSP00000332371:V575M	V	-	1	0	COL7A1	48603167	0.997000	0.39634	0.989000	0.46669	0.923000	0.55619	3.166000	0.50785	2.787000	0.95880	0.650000	0.86243	GTG		0.612	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		29	109	29	109
POU1F1	5449	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	87313619	87313619	+	Missense_Mutation	SNP	C	C	G	rs142837047		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:87313619C>G	ENST00000350375.2	-	3	382	c.258G>C	c.(256-258)ttG>ttC	p.L86F	POU1F1_ENST00000344265.3_Missense_Mutation_p.L112F|POU1F1_ENST00000560656.1_Missense_Mutation_p.L86F	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	86					B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ATCCATGACTCAAGGTGTGGT	0.413																																																0													74.0	79.0	78.0					3																	87313619		2203	4299	6502	SO:0001583	missense	5449			D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.258G>C	3.37:g.87313619C>G	ENSP00000263781:p.Leu86Phe		O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	ENST00000350375.2	37	CCDS2919.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220799	0.39201	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	D;D	0.89681	-2.53;-2.55	5.79	5.79	0.91817	.	0.178986	0.35013	N	0.003515	D	0.88407	0.6428	M	0.64404	1.975	0.41663	D	0.989192	P;P	0.52463	0.953;0.931	P;B	0.49999	0.628;0.444	D	0.84908	0.0846	10	0.19590	T	0.45	.	9.178	0.37123	0.1464:0.7811:0.0:0.0725	.	112;86	P28069-2;P28069	.;PIT1_HUMAN	F	86;112	ENSP00000263781:L86F;ENSP00000342931:L112F	ENSP00000342931:L112F	L	-	3	2	POU1F1	87396309	0.998000	0.40836	0.489000	0.27452	0.088000	0.18126	1.280000	0.33202	2.734000	0.93682	0.655000	0.94253	TTG		0.413	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306		32	58	32	58
HGD	3081	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	120347254	120347254	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:120347254G>T	ENST00000283871.5	-	14	1770	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	437					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GGTTCCTGGAGTTGGGAGTGA	0.468																																																0													189.0	186.0	187.0					3																	120347254		2203	4296	6499	SO:0001583	missense	3081				CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.1311C>A	3.37:g.120347254G>T	ENSP00000283871:p.Asn437Lys		A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	G	9.653	1.142054	0.21205	.	.	ENSG00000113924	ENST00000283871	D	0.98978	-5.29	5.02	-4.71	0.03279	Cupin, RmlC-type (1);	0.287715	0.36167	N	0.002741	D	0.95271	0.8466	L	0.41415	1.275	0.34915	D	0.747828	B	0.02656	0.0	B	0.04013	0.001	D	0.86513	0.1811	10	0.18710	T	0.47	-5.4857	7.078	0.25215	0.1867:0.1215:0.573:0.1188	.	437	Q93099	HGD_HUMAN	K	437	ENSP00000283871:N437K	ENSP00000283871:N437K	N	-	3	2	HGD	121829944	0.967000	0.33354	0.778000	0.31720	0.342000	0.28953	0.142000	0.16096	-0.406000	0.07588	-1.264000	0.01445	AAC		0.468	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			43	165	43	165
PRR23B	389151	hgsc.bcm.edu;broad.mit.edu	37	3	138739058	138739058	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:138739058G>C	ENST00000329447.5	-	1	710	c.446C>G	c.(445-447)gCc>gGc	p.A149G	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	149										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCCTGGGCGGCGATCTCTGG	0.662																																																0													44.0	50.0	48.0					3																	138739058		2203	4300	6503	SO:0001583	missense	389151			BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.446C>G	3.37:g.138739058G>C	ENSP00000328768:p.Ala149Gly		B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379630	0.42207	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.05	-1.11	0.09840	.	1.397330	0.05141	N	0.494315	T	0.55114	0.1900	M	0.64997	1.995	0.09310	N	1	D	0.69078	0.997	D	0.79108	0.992	T	0.41431	-0.9509	9	0.44086	T	0.13	.	2.6307	0.04943	0.3861:0.0:0.3993:0.2146	.	149	Q6ZRT6	PR23B_HUMAN	G	149	.	ENSP00000328768:A149G	A	-	2	0	PRR23B	140221748	0.005000	0.15991	0.000000	0.03702	0.038000	0.13279	1.192000	0.32150	-0.254000	0.09500	0.456000	0.33151	GCC		0.662	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		6	103	6	103
PCDH7	5099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	30723437	30723437	+	Silent	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr4:30723437C>G	ENST00000361762.2	+	1	1401	c.393C>G	c.(391-393)gtC>gtG	p.V131V	PCDH7_ENST00000543491.1_Silent_p.V131V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	131	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGGGTCAGGTCATCGTGCTTG	0.602																																																0													56.0	42.0	47.0					4																	30723437		2203	4300	6503	SO:0001819	synonymous_variant	5099			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.393C>G	4.37:g.30723437C>G			O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	CCDS33971.1																																																																																				0.602	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		9	14	9	14
LMBRD2	92255	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	36122537	36122537	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:36122537C>T	ENST00000296603.4	-	9	1427	c.965G>A	c.(964-966)cGa>cAa	p.R322Q		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	322						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACTTGAGTTCGACGGTGTCT	0.408																																																0													80.0	77.0	78.0					5																	36122537		2203	4300	6503	SO:0001583	missense	92255				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.965G>A	5.37:g.36122537C>T	ENSP00000296603:p.Arg322Gln		B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860174	0.91433	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.29397	1.57	5.6	5.6	0.85130	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.39963	0.1098	M	0.84585	2.705	0.80722	D	1	P	0.39903	0.694	B	0.30716	0.119	T	0.52571	-0.8558	10	0.59425	D	0.04	-7.2998	19.6061	0.95582	0.0:1.0:0.0:0.0	.	322	Q68DH5	LMBD2_HUMAN	Q	322;216	ENSP00000296603:R322Q	ENSP00000296603:R322Q	R	-	2	0	LMBRD2	36158294	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.766000	0.55280	2.600000	0.87896	0.650000	0.86243	CGA		0.408	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		23	42	23	42
PCDHA10	56139	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	140237506	140237506	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140237506C>G	ENST00000307360.5	+	1	1873	c.1873C>G	c.(1873-1875)Ctg>Gtg	p.L625V	PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGTGGGGCTGTACACGGG	0.632																																																0													72.0	77.0	75.0					5																	140237506		1324	2291	3615	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1873C>G	5.37:g.140237506C>G	ENSP00000304234:p.Leu625Val		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639841	0.29157	.	.	ENSG00000250120	ENST00000307360	T	0.50813	0.73	3.68	2.8	0.32819	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.63177	0.2489	M	0.79614	2.46	0.09310	N	0.999996	D;P	0.61080	0.989;0.6	P;B	0.58721	0.844;0.363	T	0.53337	-0.8453	9	0.59425	D	0.04	.	11.8505	0.52410	0.0:0.9077:0.0:0.0923	.	625;625	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	V	625	ENSP00000304234:L625V	ENSP00000304234:L625V	L	+	1	2	PCDHA10	140217690	0.000000	0.05858	0.997000	0.53966	0.803000	0.45373	-0.070000	0.11523	2.041000	0.60428	0.491000	0.48974	CTG		0.632	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		14	56	14	56
BTNL8	79908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	180374587	180374587	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:180374587G>C	ENST00000340184.4	+	4	955	c.749G>C	c.(748-750)gGc>gCc	p.G250A	BTNL8_ENST00000505126.1_Missense_Mutation_p.G43A|BTNL8_ENST00000533815.2_Missense_Mutation_p.G66A|BTNL8_ENST00000508408.1_Missense_Mutation_p.G250A|BTNL8_ENST00000400707.3_Missense_Mutation_p.G125A|BTNL8_ENST00000231229.4_Missense_Mutation_p.G250A|BTNL8_ENST00000511704.1_Missense_Mutation_p.G134A	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	250					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATTTTTTGGCATTGTTGGA	0.458																																																0													234.0	242.0	239.0					5																	180374587		2203	4296	6499	SO:0001583	missense	79908			AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.749G>C	5.37:g.180374587G>C	ENSP00000342197:p.Gly250Ala		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	0.184	-1.059642	0.01950	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000400707;ENST00000508408;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T;T;T	0.58506	4.95;1.4;0.74;4.95;0.74;0.33;0.36	1.33	-0.896	0.10557	.	.	.	.	.	T	0.33962	0.0881	L	0.38175	1.15	0.09310	N	1	B;P;P;P;B	0.47762	0.363;0.765;0.9;0.787;0.012	B;B;B;B;B	0.37387	0.096;0.157;0.208;0.248;0.006	T	0.23547	-1.0185	9	0.15952	T	0.53	.	1.9118	0.03289	0.2274:0.0:0.4567:0.3159	.	125;134;250;250;250	E9PG07;E9PEF6;F2Z2B2;A6NEX6;Q6UX41	.;.;.;.;BTNL8_HUMAN	A	250;250;125;250;134;43;66	ENSP00000231229:G250A;ENSP00000342197:G250A;ENSP00000383543:G125A;ENSP00000424585:G250A;ENSP00000425207:G134A;ENSP00000427441:G43A;ENSP00000435098:G66A	ENSP00000231229:G250A	G	+	2	0	BTNL8	180307193	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.977000	0.03782	-0.322000	0.08615	0.436000	0.28706	GGC		0.458	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		109	188	109	188
NUP153	9972	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	17629745	17629745	+	Silent	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:17629745C>T	ENST00000262077.2	-	18	2684	c.2685G>A	c.(2683-2685)tcG>tcA	p.S895S	NUP153_ENST00000537253.1_Silent_p.S926S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	895					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGCTGAGTTCGAAGATGAGG	0.388																																																0													62.0	67.0	65.0					6																	17629745		2203	4300	6503	SO:0001819	synonymous_variant	9972			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2685G>A	6.37:g.17629745C>T			B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	CCDS4541.1																																																																																				0.388	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			35	43	35	43
GPR116	221395	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	46830772	46830772	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:46830772C>G	ENST00000283296.7	-	15	2340	c.2052G>C	c.(2050-2052)caG>caC	p.Q684H	GPR116_ENST00000545669.1_Missense_Mutation_p.Q113H|GPR116_ENST00000456426.2_Missense_Mutation_p.Q542H|GPR116_ENST00000362015.4_Missense_Mutation_p.Q684H|GPR116_ENST00000265417.7_Missense_Mutation_p.Q684H	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	684					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGCATAGCTTCTGGATGACTT	0.507																																					NSCLC(59;410 1274 8751 36715 50546)											0													94.0	90.0	91.0					6																	46830772		2203	4300	6503	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2052G>C	6.37:g.46830772C>G	ENSP00000283296:p.Gln684His		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313320	0.60414	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.27720	1.68;2.06;1.69;1.68;1.65	5.33	3.56	0.40772	.	0.329841	0.26196	N	0.025767	T	0.30293	0.0760	M	0.72118	2.19	0.28942	N	0.890921	D;P;D;D;D	0.61080	0.989;0.9;0.958;0.978;0.958	P;P;P;P;P	0.59221	0.804;0.593;0.701;0.854;0.701	T	0.11275	-1.0594	10	0.51188	T	0.08	-4.1437	7.7078	0.28661	0.0:0.7418:0.0:0.2582	.	113;239;684;542;684	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	H	684;684;684;542;55;684;113	ENSP00000283296:Q684H;ENSP00000354563:Q684H;ENSP00000412866:Q542H;ENSP00000265417:Q684H;ENSP00000441581:Q113H	ENSP00000265417:Q684H	Q	-	3	2	GPR116	46938731	0.662000	0.27439	0.989000	0.46669	0.787000	0.44495	0.614000	0.24314	0.755000	0.32990	0.655000	0.94253	CAG		0.507	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		35	62	35	62
UTRN	7402	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	145149966	145149966	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:145149966G>C	ENST00000367545.3	+	68	9640	c.9640G>C	c.(9640-9642)Gat>Cat	p.D3214H	UTRN_ENST00000367526.4_Missense_Mutation_p.D769H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3214					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTTTCTCACTGATAGCAGCTC	0.423																																																0													99.0	91.0	94.0					6																	145149966		2203	4300	6503	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9640G>C	6.37:g.145149966G>C	ENSP00000356515:p.Asp3214His		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503868	0.85176	.	.	ENSG00000152818	ENST00000367545;ENST00000367526;ENST00000545166;ENST00000432686;ENST00000417142;ENST00000455022	D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04	5.67	5.67	0.87782	.	0.000000	0.52532	D	0.000067	D	0.91185	0.7223	M	0.82517	2.595	0.53005	D	0.999966	P	0.42203	0.773	P	0.55615	0.78	D	0.91481	0.5204	10	0.72032	D	0.01	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	3214	P46939	UTRO_HUMAN	H	3214;769;160;173;160;126	ENSP00000356515:D3214H;ENSP00000356496:D769H;ENSP00000398923:D173H;ENSP00000404205:D160H;ENSP00000387927:D126H	ENSP00000356496:D769H	D	+	1	0	UTRN	145191659	1.000000	0.71417	0.979000	0.43373	0.970000	0.65996	8.682000	0.91232	2.659000	0.90383	0.655000	0.94253	GAT		0.423	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			6	34	6	34
ADCY1	107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	45699747	45699747	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:45699747G>A	ENST00000297323.7	+	7	1436	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	ADCY1_ENST00000432715.1_Missense_Mutation_p.E247K	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	472					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCATAACATCGAAACCTTTTT	0.483																																																0													169.0	149.0	155.0					7																	45699747		2203	4300	6503	SO:0001583	missense	107			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1414G>A	7.37:g.45699747G>A	ENSP00000297323:p.Glu472Lys		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362747	0.41902	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	T;T	0.81330	-1.48;-1.48	5.5	3.63	0.41609	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.052090	0.85682	N	0.000000	T	0.59865	0.2225	N	0.16266	0.395	0.58432	D	0.999998	P;B	0.46277	0.875;0.251	B;B	0.38106	0.265;0.04	T	0.55742	-0.8093	10	0.10377	T	0.69	.	8.6348	0.33941	0.2001:0.0:0.7999:0.0	.	472;247	Q08828;C9J1J0	ADCY1_HUMAN;.	K	247;472;472	ENSP00000392721:E247K;ENSP00000297323:E472K	ENSP00000297323:E472K	E	+	1	0	ADCY1	45666272	1.000000	0.71417	0.642000	0.29436	0.508000	0.34012	7.299000	0.78831	0.612000	0.30071	0.551000	0.68910	GAA		0.483	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		17	53	17	53
ADAM22	53616	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	87792427	87792427	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:87792427C>G	ENST00000265727.7	+	23	2087	c.2008C>G	c.(2008-2010)Cct>Gct	p.P670A	ADAM22_ENST00000315984.7_Missense_Mutation_p.P670A|ADAM22_ENST00000398201.4_Missense_Mutation_p.P670A|ADAM22_ENST00000398209.3_Missense_Mutation_p.P670A|ADAM22_ENST00000398204.4_Missense_Mutation_p.P670A			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	670	Cys-rich.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGTGTCTTCCTGTGGCTTC	0.428																																																0													153.0	138.0	143.0					7																	87792427		1868	4100	5968	SO:0001583	missense	53616			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2008C>G	7.37:g.87792427C>G	ENSP00000265727:p.Pro670Ala		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114349	0.56505	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930	T;T;T;T;T;T;T	0.42131	4.52;4.52;4.52;4.54;4.54;4.52;0.98	5.83	5.83	0.93111	ADAM, cysteine-rich (1);	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	L	0.58101	1.795	0.80722	D	1	P;P;P;P	0.39809	0.689;0.601;0.466;0.627	B;B;B;B	0.42771	0.397;0.352;0.191;0.132	T	0.45614	-0.9249	10	0.66056	D	0.02	.	12.9347	0.58307	0.0:0.9219:0.0:0.0781	.	722;670;670;670	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	A	670;670;670;670;670;637;28	ENSP00000381262:P670A;ENSP00000381260:P670A;ENSP00000265727:P670A;ENSP00000315900:P670A;ENSP00000381267:P670A;ENSP00000381261:P637A;ENSP00000396233:P28A	ENSP00000265727:P670A	P	+	1	0	ADAM22	87630363	0.998000	0.40836	1.000000	0.80357	0.835000	0.47333	3.789000	0.55454	2.752000	0.94435	0.650000	0.86243	CCT		0.428	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		36	103	36	103
CYP3A4	1576	hgsc.bcm.edu;broad.mit.edu	37	7	99359851	99359851	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:99359851G>C	ENST00000336411.2	-	11	1249	c.1066C>G	c.(1066-1068)Ctt>Gtt	p.L356V	CYP3A4_ENST00000354593.2_Missense_Mutation_p.L206V	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	356					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	ACCATGTCAAGATACTCCATC	0.398																																																0													133.0	117.0	122.0					7																	99359851		2203	4300	6503	SO:0001583	missense	1576			AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1066C>G	7.37:g.99359851G>C	ENSP00000337915:p.Leu356Val		P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	CCDS5674.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620273	0.46736	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	T;T	0.76316	-1.01;-1.01	4.35	2.45	0.29901	.	0.000000	0.85682	D	0.000000	D	0.87414	0.6171	M	0.93241	3.395	0.53005	D	0.999966	D;D;D;D;D	0.71674	0.992;0.998;0.997;0.997;0.997	P;D;D;D;D	0.72625	0.882;0.978;0.92;0.92;0.92	D	0.84438	0.0581	10	0.87932	D	0	.	2.4234	0.04454	0.1082:0.193:0.5:0.1988	.	206;283;356;356;356	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	V	206;356	ENSP00000346607:L206V;ENSP00000337915:L356V	ENSP00000337915:L356V	L	-	1	0	CYP3A4	99197787	1.000000	0.71417	0.997000	0.53966	0.650000	0.38633	3.029000	0.49712	0.755000	0.32990	0.561000	0.74099	CTT		0.398	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1			6	90	6	90
GIGYF1	64599	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	100281867	100281867	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:100281867C>G	ENST00000275732.5	-	14	2932	c.1723G>C	c.(1723-1725)Gtc>Ctc	p.V575L	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	575	Gln-rich.				insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TACCTGCTGACCAGCTGGAGA	0.657																																																0													15.0	18.0	17.0					7																	100281867		2202	4296	6498	SO:0001583	missense	64599			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1723G>C	7.37:g.100281867C>G	ENSP00000275732:p.Val575Leu		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	1.690	-0.504292	0.04261	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.81499	-1.5	4.52	3.55	0.40652	.	0.896444	0.09177	N	0.837980	T	0.47563	0.1452	N	0.00771	-1.2	0.31430	N	0.673232	B	0.12630	0.006	B	0.13407	0.009	T	0.55909	-0.8066	10	0.07175	T	0.84	-15.7173	5.3083	0.15815	0.0:0.7724:0.0:0.2276	.	575	O75420	PERQ1_HUMAN	L	294;575	ENSP00000275732:V575L	ENSP00000275732:V575L	V	-	1	0	GIGYF1	100119803	1.000000	0.71417	0.998000	0.56505	0.379000	0.30106	2.416000	0.44644	2.354000	0.79902	0.313000	0.20887	GTC		0.657	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		25	20	25	20
SLC26A3	1811	hgsc.bcm.edu;broad.mit.edu	37	7	107423255	107423255	+	Missense_Mutation	SNP	G	G	T	rs200724013		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:107423255G>T	ENST00000340010.5	-	11	1482	c.1298C>A	c.(1297-1299)gCg>gAg	p.A433E	SLC26A3_ENST00000422236.2_Missense_Mutation_p.A398E	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	433					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTGTAGAGGCGCCAGGAGAAA	0.413																																																0													87.0	86.0	86.0					7																	107423255		2203	4300	6503	SO:0001583	missense	1811			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1298C>A	7.37:g.107423255G>T	ENSP00000345873:p.Ala433Glu			Missense_Mutation	SNP	ENST00000340010.5	37	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	0.825	-0.747404	0.03065	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.92647	-3.08;-3.08	6.07	-0.901	0.10540	Sulphate transporter (1);	0.681821	0.15500	N	0.259095	T	0.71324	0.3326	N	0.00380	-1.58	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.57860	-0.7738	10	0.02654	T	1	.	19.0709	0.93136	0.0:0.0:0.6449:0.3551	.	398;433	G5E9U3;P40879	.;S26A3_HUMAN	E	398;433	ENSP00000415817:A398E;ENSP00000345873:A433E	ENSP00000345873:A433E	A	-	2	0	SLC26A3	107210491	0.767000	0.28508	0.025000	0.17156	0.576000	0.36127	1.035000	0.30216	-0.362000	0.08113	-0.256000	0.11100	GCG		0.413	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		10	162	10	162
EXOC4	60412	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	133692502	133692502	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:133692502C>G	ENST00000253861.4	+	17	2630	c.2601C>G	c.(2599-2601)atC>atG	p.I867M	EXOC4_ENST00000539845.1_Missense_Mutation_p.I766M|EXOC4_ENST00000541309.1_Missense_Mutation_p.I155M|EXOC4_ENST00000545148.1_Missense_Mutation_p.I477M	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	867					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGTCTGGCATCAAGAAAATGT	0.522																																																0													79.0	66.0	70.0					7																	133692502		2203	4300	6503	SO:0001583	missense	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2601C>G	7.37:g.133692502C>G	ENSP00000253861:p.Ile867Met		E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031567	0.75504	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.67429	0.2892	L	0.45137	1.4	0.54753	D	0.999985	D;D;D	0.58268	0.958;0.982;0.972	P;P;P	0.58873	0.847;0.847;0.647	T	0.69331	-0.5173	9	0.66056	D	0.02	.	18.2831	0.90104	0.0:1.0:0.0:0.0	.	399;477;867	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	M	867;486;766;477;155	.	ENSP00000253861:I867M	I	+	3	3	EXOC4	133343042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.239000	0.51360	2.569000	0.86673	0.591000	0.81541	ATC		0.522	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		10	60	10	60
KBTBD11	9920	hgsc.bcm.edu;broad.mit.edu	37	8	1950795	1950795	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:1950795G>C	ENST00000320248.3	+	2	2403	c.1437G>C	c.(1435-1437)gaG>gaC	p.E479D		NM_014867.2	NP_055682.1	O94819	KBTBB_HUMAN	kelch repeat and BTB (POZ) domain containing 11	479										lung(1)|pancreas(1)	2		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134)		GGCGCGACGAGTGGCAGGAGT	0.687																																																0													10.0	8.0	9.0					8																	1950795		2034	3936	5970	SO:0001583	missense	9920			AB018254	CCDS34795.1	8p23.3	2014-08-12			ENSG00000176595	ENSG00000176595		"""BTB/POZ domain containing"""	29104	protein-coding gene	gene with protein product							Standard	NM_014867		Approved	KIAA0711, KLHDC7C	uc003wpw.4	O94819	OTTHUMG00000163629	ENST00000320248.3:c.1437G>C	8.37:g.1950795G>C	ENSP00000321544:p.Glu479Asp		Q3L1I0	Missense_Mutation	SNP	ENST00000320248.3	37	CCDS34795.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263502	0.59431	.	.	ENSG00000176595	ENST00000320248	T	0.13778	2.56	4.58	3.7	0.42460	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	M	0.69823	2.125	0.38283	D	0.942495	D	0.57257	0.979	P	0.55055	0.767	T	0.08126	-1.0737	10	0.62326	D	0.03	.	9.4969	0.38993	0.1657:0.0:0.8343:0.0	.	479	O94819	KBTBB_HUMAN	D	479	ENSP00000321544:E479D	ENSP00000321544:E479D	E	+	3	2	KBTBD11	1938202	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.823000	0.69272	1.009000	0.39289	0.455000	0.32223	GAG		0.687	KBTBD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374601.1	NM_014867		7	6	7	6
VPS13B	157680	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	100829810	100829810	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:100829810C>G	ENST00000358544.2	+	45	8326	c.8215C>G	c.(8215-8217)Caa>Gaa	p.Q2739E	VPS13B_ENST00000357162.2_Missense_Mutation_p.Q2714E|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2739					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTACTTGTCTCAAAGCATAGA	0.373																																					Colon(161;2205 2542 7338 31318)											0													77.0	78.0	78.0					8																	100829810		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8215C>G	8.37:g.100829810C>G	ENSP00000351346:p.Gln2739Glu		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	7.401	0.632724	0.14322	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.68765	-0.35;-0.35	5.61	3.76	0.43208	.	0.199496	0.41294	N	0.000903	T	0.44307	0.1287	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35549	-0.9784	10	0.07175	T	0.84	.	16.7969	0.85604	0.0:0.4499:0.5501:0.0	.	2714;2739	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	E	2714;2739	ENSP00000349685:Q2714E;ENSP00000351346:Q2739E	ENSP00000349685:Q2714E	Q	+	1	0	VPS13B	100898986	0.655000	0.27376	1.000000	0.80357	0.996000	0.88848	0.788000	0.26872	0.794000	0.33899	0.655000	0.94253	CAA		0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		24	58	24	58
SCRIB	23513	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	144895232	144895232	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:144895232G>C	ENST00000320476.3	-	7	616	c.610C>G	c.(610-612)Ctt>Gtt	p.L204V	SCRIB_ENST00000377533.3_Missense_Mutation_p.L123V|SCRIB_ENST00000356994.2_Missense_Mutation_p.L204V|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	204	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TTCCGGTCAAGCCACAGCTCC	0.627																																					Pancreas(51;966 1133 10533 14576 29674)											0													14.0	16.0	16.0					8																	144895232		2185	4292	6477	SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.610C>G	8.37:g.144895232G>C	ENSP00000322938:p.Leu204Val		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323403	0.60634	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.29917	1.55;1.55;1.55	4.28	3.38	0.38709	.	.	.	.	.	T	0.47581	0.1453	L	0.54863	1.705	0.53688	D	0.999974	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	T	0.44112	-0.9349	9	0.87932	D	0	.	10.3358	0.43850	0.1738:0.0:0.8262:0.0	.	204;204	Q14160;Q14160-3	SCRIB_HUMAN;.	V	204;204;123	ENSP00000349486:L204V;ENSP00000322938:L204V;ENSP00000366756:L123V	ENSP00000322938:L204V	L	-	1	0	SCRIB	144967220	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	1.526000	0.35964	0.865000	0.35603	0.563000	0.77884	CTT		0.627	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		6	15	6	15
ATRX	546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	76937038	76937038	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chrX:76937038G>C	ENST00000373344.5	-	9	3924	c.3710C>G	c.(3709-3711)tCa>tGa	p.S1237*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1199*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1237	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCCAGTATGTGAAGACAGCAC	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											118.0	108.0	112.0					X																	76937038		2203	4295	6498	SO:0001587	stop_gained	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3710C>G	X.37:g.76937038G>C	ENSP00000362441:p.Ser1237*		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	46	12.128128	0.99638	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.73	5.73	0.89815	.	0.357786	0.23084	N	0.052108	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-2.4821	17.018	0.86425	0.0:0.0:1.0:0.0	.	.	.	.	X	1237;1199;1164	.	ENSP00000362441:S1237X	S	-	2	0	ATRX	76823694	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	3.406000	0.52637	2.397000	0.81536	0.513000	0.50165	TCA		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		46	18	46	18
PANX2	56666	broad.mit.edu;ucsc.edu	37	22	50609371	50609371	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:50609371C>G	ENST00000395842.2	+	1	212	c.212C>G	c.(211-213)aCc>aGc	p.T71S	PANX2_ENST00000159647.5_Missense_Mutation_p.T71S	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	71					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CTGGTCTTCACCAAGAACTTC	0.731																																																0													8.0	8.0	8.0					22																	50609371		2155	4240	6395	SO:0001583	missense	56666				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.212C>G	22.37:g.50609371C>G	ENSP00000379183:p.Thr71Ser		B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189774	0.38707	.	.	ENSG00000073150	ENST00000159647;ENST00000395842	T;T	0.23950	1.88;1.88	3.46	3.46	0.39613	.	0.000000	0.64402	U	0.000001	T	0.39118	0.1066	L	0.40543	1.245	0.48901	D	0.999722	D;D	0.65815	0.994;0.995	P;D	0.66196	0.824;0.942	T	0.18999	-1.0319	10	0.42905	T	0.14	-8.128	14.9246	0.70866	0.0:1.0:0.0:0.0	.	71;71	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	S	71	ENSP00000159647:T71S;ENSP00000379183:T71S	ENSP00000159647:T71S	T	+	2	0	PANX2	48951498	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.289000	0.65656	1.474000	0.48178	0.305000	0.20034	ACC		0.731	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		4	13	4	13
TPTE2P2	644623	broad.mit.edu;ucsc.edu	37	13	52864030	52864030	+	RNA	SNP	C	C	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:52864030C>T	ENST00000451298.1	-	0	139																											GAATGATACTCCAAAGGAATA	0.313																																																0																																												0																															13.37:g.52864030C>T				RNA	SNP	ENST00000451298.1	37																																																																																					0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			9	20	9	20
KIAA1161	57462	broad.mit.edu;ucsc.edu	37	9	34372002	34372002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:34372002G>A	ENST00000297625.7	-	2	1063	c.838C>T	c.(838-840)Cga>Tga	p.R280*		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	314					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		ATGGGGTCTCGGAAGGCCTCG	0.612																																																0													59.0	63.0	62.0					9																	34372002		2069	4190	6259	SO:0001587	stop_gained	57462			AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.838C>T	9.37:g.34372002G>A	ENSP00000297625:p.Arg280*		Q5T587|Q5T588|Q9ULQ9	Nonsense_Mutation	SNP	ENST00000297625.7	37		.	.	.	.	.	.	.	.	.	.	G	35	5.487249	0.96323	.	.	ENSG00000164976	ENST00000297625	.	.	.	6.08	4.22	0.49857	.	0.376195	0.27219	N	0.020368	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-9.6627	13.4401	0.61108	0.0:0.0:0.5883:0.4117	.	.	.	.	X	280	.	ENSP00000297625:R280X	R	-	1	2	KIAA1161	34362002	0.976000	0.34144	0.999000	0.59377	0.981000	0.71138	0.929000	0.28844	0.874000	0.35823	0.655000	0.94253	CGA		0.612	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		8	56	8	56
MYO5B	4645	broad.mit.edu;ucsc.edu	37	18	47383224	47383224	+	Silent	SNP	T	T	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:47383224T>G	ENST00000285039.7	-	30	4280	c.3981A>C	c.(3979-3981)ggA>ggC	p.G1327G	MYO5B_ENST00000324581.6_Intron	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1327					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCCGAGTTCTCCATCTTCAT	0.488																																																0													115.0	116.0	116.0					18																	47383224		1938	4143	6081	SO:0001819	synonymous_variant	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3981A>C	18.37:g.47383224T>G			B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	CCDS42436.1																																																																																				0.488	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			25	37	25	37
UTRN	7402	broad.mit.edu;ucsc.edu	37	6	145149992	145149992	+	Splice_Site	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:145149992G>C	ENST00000367545.3	+	68	9665		c.e68+1		UTRN_ENST00000367526.4_Splice_Site	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGGAAGTGTGTAAGTAAATC	0.423																																																0													83.0	77.0	79.0					6																	145149992		2203	4300	6503	SO:0001630	splice_region_variant	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9665+1G>C	6.37:g.145149992G>C			Q5SYY1|Q5SZ57|Q9UJ40	Splice_Site	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704452	0.88924	.	.	ENSG00000152818	ENST00000367545;ENST00000367526;ENST00000545166;ENST00000417142;ENST00000455022	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UTRN	145191685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.682000	0.91232	2.659000	0.90383	0.655000	0.94253	.		0.423	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		Intron	3	28	3	28
PCDHA9	9752	broad.mit.edu;ucsc.edu	37	5	140242564	140242564	+	Intron	SNP	G	G	C			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140242564G>C	ENST00000532602.1	+	1	3427				PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|AC005609.1_ENST00000502505.1_Missense_Mutation_p.P138A|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA14_ENST00000562220.1_RNA	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTTGGTGGCGAAGGTGCG	0.642																																					Melanoma(55;1800 1972 14909)											0																																										SO:0001627	intron_variant	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+12090G>C	5.37:g.140242564G>C			O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	g	4.745	0.138620	0.09083	.	.	ENSG00000249034	ENST00000502505	.	.	.	4.02	2.23	0.28157	.	.	.	.	.	T	0.43897	0.1268	.	.	.	0.80722	D	1	P	0.39326	0.668	B	0.39935	0.314	T	0.34750	-0.9816	7	0.87932	D	0	.	5.1193	0.14852	0.1731:0.0:0.6604:0.1665	.	138	Q8NB83	.	A	138	.	ENSP00000424817:P138A	P	-	1	0	AC005609.17	140222748	0.062000	0.20869	1.000000	0.80357	0.019000	0.09904	0.076000	0.14712	0.365000	0.24400	-0.678000	0.03780	CCA		0.642	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		7	17	7	17
CD58	965	broad.mit.edu;ucsc.edu	37	1	117113546	117113546	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:117113546C>G	ENST00000369489.5	-	1	115	c.49G>C	c.(49-51)Gtc>Ctc	p.V17L	CD58_ENST00000369487.3_Missense_Mutation_p.V17L|CD58_ENST00000457047.2_Missense_Mutation_p.V17L	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	17					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		AGCAGGCAGACCACGCTGAGG	0.741																																																0													7.0	12.0	11.0					1																	117113546		2135	4192	6327	SO:0001583	missense	965			BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"""CD molecules"""	1688	protein-coding gene	gene with protein product		153420	"""CD58 antigen, (lymphocyte function-associated antigen 3)"""	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.49G>C	1.37:g.117113546C>G	ENSP00000358501:p.Val17Leu		A8K7G5|Q5U053|Q6IB65|Q96KI9	Missense_Mutation	SNP	ENST00000369489.5	37	CCDS888.1	.	.	.	.	.	.	.	.	.	.	C	2.369	-0.344834	0.05208	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000369487	T;T;T	0.22336	1.96;1.96;1.96	1.73	-3.47	0.04753	.	16.472600	0.00166	N	0.000001	T	0.02533	0.0077	L	0.34521	1.04	0.09310	N	1	B;B;B	0.25272	0.103;0.122;0.103	B;B;B	0.25140	0.04;0.036;0.058	T	0.33111	-0.9881	10	0.06099	T	0.92	.	1.9754	0.03415	0.4204:0.3214:0.1372:0.121	.	17;17;17	P19256-3;B1AMW1;P19256	.;.;LFA3_HUMAN	L	17	ENSP00000358501:V17L;ENSP00000409080:V17L;ENSP00000358499:V17L	ENSP00000358499:V17L	V	-	1	0	CD58	116915069	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.863000	0.00347	-3.150000	0.00231	-2.699000	0.00136	GTC		0.741	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	NM_001779		3	5	3	5
PHB2	11331	broad.mit.edu;ucsc.edu	37	12	7077734	7077734	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:7077734A>T	ENST00000535923.1	-	4	598	c.317T>A	c.(316-318)cTg>cAg	p.L106Q	PHB2_ENST00000440277.1_Missense_Mutation_p.L106Q|PHB2_ENST00000544134.1_5'UTR|EMG1_ENST00000261406.6_5'Flank|PHB2_ENST00000542912.1_Missense_Mutation_p.L106Q|PHB2_ENST00000399433.2_Missense_Mutation_p.L106Q|PHB2_ENST00000546111.1_Intron|SCARNA12_ENST00000459155.1_RNA	NM_001144831.1	NP_001138303.1			prohibitin 2											ovary(2)|pancreas(1)	3						CAACACTCGCAGGGAGATATT	0.532																																																0													65.0	65.0	65.0					12																	7077734		2061	4206	6267	SO:0001583	missense	11331			AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.317T>A	12.37:g.7077734A>T	ENSP00000441875:p.Leu106Gln			Missense_Mutation	SNP	ENST00000535923.1	37	CCDS53741.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.900618	0.92035	.	.	ENSG00000215021	ENST00000535923;ENST00000542912;ENST00000399433;ENST00000440277;ENST00000545167;ENST00000536316	D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	5.31	5.31	0.75309	.	0.097329	0.42964	U	0.000629	D	0.97980	0.9335	M	0.94142	3.5	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.79108	0.987;0.992;0.992	D	0.99278	1.0895	10	0.87932	D	0	-9.955	15.5626	0.76262	1.0:0.0:0.0:0.0	.	106;106;106	B4DW05;B4DP75;Q99623	.;.;PHB2_HUMAN	Q	106;106;106;106;142;117	ENSP00000441875:L106Q;ENSP00000440317:L106Q;ENSP00000382362:L106Q;ENSP00000412856:L106Q;ENSP00000441662:L142Q;ENSP00000439029:L117Q	ENSP00000382362:L106Q	L	-	2	0	PHB2	6947995	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.287000	0.95975	2.134000	0.65973	0.533000	0.62120	CTG		0.532	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400040.3	NM_007273		15	39	15	39
PCDHB18	54660	broad.mit.edu;ucsc.edu	37	5	140615277	140615277	+	RNA	SNP	C	C	G			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140615277C>G	ENST00000526308.1	+	0	1340					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						ACAGTTTGCTCAATTCAGGAC	0.478																																																0																																												54660			AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615277C>G			B3KTF8	RNA	SNP	ENST00000526308.1	37																																																																																					0.478	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			11	7	11	7
RUNX2	860	broad.mit.edu;hgsc.bcm.edu	37	6	45390354	45390355	+	Frame_Shift_Ins	INS	-	-	C	rs397515538		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:45390354_45390355insC	ENST00000371438.1	+	2	441_442	c.83_84insC	c.(82-87)agccccfs	p.SP28fs	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000576263.1_Frame_Shift_Ins_p.SP28fs|RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.SP96fs|RUNX2_ENST00000465038.2_Frame_Shift_Ins_p.SP28fs|RUNX2_ENST00000371436.6_Frame_Shift_Ins_p.SP28fs|RUNX2_ENST00000371432.3_Frame_Shift_Ins_p.SP14fs|RUNX2_ENST00000359524.5_Frame_Shift_Ins_p.SP14fs|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.SP96fs	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	28					BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGCGCTTCAGCCCCCCCTCCA	0.649																																																0																																										SO:0001589	frameshift_variant	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.90dupC	6.37:g.45390361_45390361dupC	ENSP00000360493:p.Ser28fs		O14614|O14615|O95181	Frame_Shift_Ins	INS	ENST00000371438.1	37	CCDS43467.2																																																																																				0.649	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		39	182	39	182
MYH4	4622	broad.mit.edu;hgsc.bcm.edu	37	17	10363541	10363541	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:10363541delG	ENST00000255381.2	-	13	1355	c.1245delC	c.(1243-1245)accfs	p.T415fs	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	415	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTGGCCTTTGGTTACGAACT	0.428																																																0													122.0	111.0	115.0					17																	10363541		2203	4300	6503	SO:0001589	frameshift_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1245delC	17.37:g.10363541delG	ENSP00000255381:p.Thr415fs			Frame_Shift_Del	DEL	ENST00000255381.2	37	CCDS11154.1																																																																																				0.428	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		29	107	29	107
