#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADAMTS12	81792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	33637849	33637849	+	Missense_Mutation	SNP	G	G	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr5:33637849G>C	ENST00000504830.1	-	12	2056	c.1721C>G	c.(1720-1722)cCa>cGa	p.P574R	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P574R|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	574	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P574R(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCAAACTTTGGCCTGCAAAT	0.463										HNSCC(64;0.19)																																							1	Substitution - Missense(1)	kidney(1)											82.0	76.0	78.0					5																	33637849		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1721C>G	5.37:g.33637849G>C	ENSP00000422554:p.Pro574Arg		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921590	0.92319	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.08008	3.14;3.14	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	T	0.61093	-0.7132	10	0.87932	D	0	.	20.6398	0.99548	0.0:0.0:1.0:0.0	.	574;574	P58397-3;P58397	.;ATS12_HUMAN	R	574	ENSP00000422554:P574R;ENSP00000344847:P574R	ENSP00000344847:P574R	P	-	2	0	ADAMTS12	33673606	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.619000	0.98369	2.881000	0.98747	0.650000	0.86243	CCA		0.463	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955	
ADAMTS2	9509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	178557016	178557016	+	Missense_Mutation	SNP	C	C	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr5:178557016C>T	ENST00000251582.7	-	16	2475	c.2374G>A	c.(2374-2376)Ggc>Agc	p.G792S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	792	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G792S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CACTCCACGCCCATGGCAATG	0.572																																																	1	Substitution - Missense(1)	kidney(1)											122.0	110.0	114.0					5																	178557016		2203	4300	6503	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2374G>A	5.37:g.178557016C>T	ENSP00000251582:p.Gly792Ser			Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437666	0.83885	.	.	ENSG00000087116	ENST00000251582	T	0.63417	-0.04	5.09	5.09	0.68999	ADAM-TS Spacer 1 (1);	0.000000	0.56097	D	0.000032	T	0.81297	0.4793	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84274	0.0490	10	0.87932	D	0	.	17.8402	0.88713	0.0:1.0:0.0:0.0	.	792	O95450	ATS2_HUMAN	S	792	ENSP00000251582:G792S	ENSP00000251582:G792S	G	-	1	0	ADAMTS2	178489622	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	5.779000	0.68948	2.523000	0.85059	0.462000	0.41574	GGC		0.572	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1		NM_014244	
ADSL	158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	40742592	40742592	+	Silent	SNP	C	C	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr22:40742592C>G	ENST00000216194.7	+	1	86	c.30C>G	c.(28-30)ccC>ccG	p.P10P	ADSL_ENST00000342312.6_Silent_p.P10P|ADSL_ENST00000454266.2_Silent_p.P10P	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	10					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)	p.P10P(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						ATGGTTCGCCCGACAGCTACC	0.642																																					Colon(4;65 130 1097 1516)												2	Substitution - coding silent(2)	kidney(2)											29.0	24.0	26.0					22																	40742592		2202	4299	6501	SO:0001819	synonymous_variant	158			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.30C>G	22.37:g.40742592C>G			B0QY76|O75495|Q5TI34	Silent	SNP	ENST00000216194.7	37	CCDS14001.1																																																																																				0.642	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1		NM_000026	
AKAP12	9590	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	151671390	151671390	+	Missense_Mutation	SNP	C	C	A	rs143476871		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr6:151671390C>A	ENST00000253332.1	+	3	2053	c.1864C>A	c.(1864-1866)Cgt>Agt	p.R622S	AKAP12_ENST00000402676.2_Missense_Mutation_p.R622S|AKAP12_ENST00000354675.6_Missense_Mutation_p.R524S|AKAP12_ENST00000359755.5_Missense_Mutation_p.R517S			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	622	AKAP 1.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.R622S(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GCCCAAGAAGCGTGTTAGACG	0.498																																					Melanoma(141;1616 1805 10049 24534 51979)												1	Substitution - Missense(1)	kidney(1)											64.0	63.0	63.0					6																	151671390		2203	4300	6503	SO:0001583	missense	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1864C>A	6.37:g.151671390C>A	ENSP00000253332:p.Arg622Ser		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206146	0.79127	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.52	5.52	0.82312	Protein kinase A anchoring, WSK motif (1);	0.000000	0.39687	N	0.001298	T	0.49881	0.1583	N	0.24115	0.695	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.99;0.99;0.997	T	0.39583	-0.9607	10	0.18276	T	0.48	.	19.065	0.93106	0.0:1.0:0.0:0.0	.	517;524;622	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	S	622;622;524;517	ENSP00000384537:R622S;ENSP00000253332:R622S;ENSP00000346702:R524S;ENSP00000352794:R517S	ENSP00000253332:R622S	R	+	1	0	AKAP12	151713083	1.000000	0.71417	0.934000	0.37439	0.385000	0.30292	7.794000	0.85869	2.591000	0.87537	0.650000	0.86243	CGT		0.498	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			
ALDH3B1	221	broad.mit.edu;hgsc.bcm.edu	37	11	67789230	67789230	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr11:67789230C>G	ENST00000539229.1	+	8	952	c.836C>G	c.(835-837)cCa>cGa	p.P279R	ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.P243R|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.P279R	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	280					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										CAGAGCTCCCCAAACCTGGGC	0.637											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													93.0	105.0	101.0					11																	67789230		2200	4294	6494	SO:0001583	missense	221			U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.836C>G	11.37:g.67789230C>G	ENSP00000474034:p.Pro279Arg	1102	A3FMP9|Q53XL5|Q8N515|Q96CK8	Missense_Mutation	SNP	ENST00000539229.1	37																																																																																					0.637	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_000694	
ANK3	288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61835232	61835232	+	Missense_Mutation	SNP	A	A	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr10:61835232A>G	ENST00000280772.2	-	37	5598	c.5407T>C	c.(5407-5409)Tcc>Ccc	p.S1803P	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1803	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S1803P(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GACCCAAGGGATGTATAGAGT	0.438																																																	1	Substitution - Missense(1)	kidney(1)											126.0	134.0	131.0					10																	61835232		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5407T>C	10.37:g.61835232A>G	ENSP00000280772:p.Ser1803Pro		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.480818	0.44044	.	.	ENSG00000151150	ENST00000280772	T	0.66995	-0.24	5.54	5.54	0.83059	.	0.000000	0.41823	D	0.000813	T	0.63248	0.2495	L	0.58101	1.795	0.80722	D	1	B	0.13145	0.007	B	0.12837	0.008	T	0.62412	-0.6860	10	0.62326	D	0.03	.	12.4968	0.55933	0.8513:0.1487:0.0:0.0	.	1803	Q12955	ANK3_HUMAN	P	1803	ENSP00000280772:S1803P	ENSP00000280772:S1803P	S	-	1	0	ANK3	61505238	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.866000	0.63005	2.135000	0.66039	0.378000	0.23410	TCC		0.438	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987	
ANKIB1	54467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92027037	92027038	+	Splice_Site	DEL	AT	AT	-			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr7:92027037_92027038delAT	ENST00000265742.3	+	19	2772_2773	c.2396_2397delAT	c.(2395-2397)gat>g	p.D799fs		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	799							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTGAAACAGATATTCCAGAAG	0.441																																																	0																																										SO:0001630	splice_region_variant	54467			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2396-1AT>-	7.37:g.92027039_92027040delAT			Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Frame_Shift_Del	DEL	ENST00000265742.3	37	CCDS47639.1																																																																																				0.441	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			Frame_Shift_Del
ANKRD30BL	554226	hgsc.bcm.edu	37	2	133014546	133014546	+	Intron	SNP	C	C	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr2:133014546C>G	ENST00000470729.1	-	1	441				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						GGAGAAACCTCAGGCACGGCC	0.726																																																	0													14.0	25.0	22.0					2																	133014546		1545	3557	5102	SO:0001627	intron_variant	554226					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.984+555G>C	2.37:g.133014546C>G			B8ZZL7	RNA	SNP	ENST00000470729.1	37																																																																																					0.726	ANKRD30BL-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000331354.1		NR_027019	
BAAT	570	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	104130484	104130484	+	Missense_Mutation	SNP	T	T	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr9:104130484T>A	ENST00000395051.3	-	2	657	c.587A>T	c.(586-588)tAt>tTt	p.Y196F	BAAT_ENST00000259407.2_Missense_Mutation_p.Y196F			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	196					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)	p.Y196F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CAGGTCTTCATAGTTATGGTA	0.473																																																	1	Substitution - Missense(1)	kidney(1)											72.0	76.0	75.0					9																	104130484		2203	4300	6503	SO:0001583	missense	570			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.587A>T	9.37:g.104130484T>A	ENSP00000378491:p.Tyr196Phe		Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	37	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	T	5.771	0.326630	0.10900	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.40756	1.02;1.02	4.47	3.31	0.37934	.	0.238726	0.29087	N	0.013182	T	0.28466	0.0704	L	0.42744	1.35	0.38744	D	0.953966	P	0.34934	0.476	B	0.31547	0.132	T	0.08086	-1.0739	10	0.14656	T	0.56	-18.0123	8.1685	0.31241	0.1965:0.0:0.0:0.8035	.	196	Q14032	BAAT_HUMAN	F	196	ENSP00000259407:Y196F;ENSP00000378491:Y196F	ENSP00000259407:Y196F	Y	-	2	0	BAAT	103170305	0.991000	0.36638	0.969000	0.41365	0.053000	0.15095	1.011000	0.29911	0.719000	0.32188	0.459000	0.35465	TAT		0.473	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			
HEATR4	399671	hgsc.bcm.edu	37	14	73957981	73957982	+	Intron	INS	-	-	C	rs150704374|rs386381768		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr14:73957981_73957982insC	ENST00000553558.1	-	17	3166				C14orf169_ENST00000531973.1_RNA|HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGCGGTGGCGGCGTCCCGGACG	0.757													CC|C|CC|deletion	5008	1.0	1.0	1.0	5008	,	,		10060	1.0		1.0	False		,,,				2504	1.0																0									,,	3399,47		1685,29,9					,,	1.1	0.0		dbSNP_130	8	7363,105		3646,71,17	no	intron,frameshift,intron	C14orf169,HEATR4	NM_203309.2,NM_024644.2,NM_001220484.1	,,	5331,100,26	A1A1,A1R,RR		1.406,1.3639,1.3927	,,	,,		10762,152				SO:0001627	intron_variant	79697			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2844+1787->G	14.37:g.73957982_73957982dupC			B7Z7V9|E9KL41	Frame_Shift_Ins	INS	ENST00000553558.1	37	CCDS9815.2																																																																																				0.757	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2		NM_203309	
C8A	731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	57351710	57351710	+	Silent	SNP	A	A	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr1:57351710A>T	ENST00000361249.3	+	7	1062	c.966A>T	c.(964-966)ccA>ccT	p.P322P		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	322	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.P322P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGGAGCTTCCAGATCAGTACA	0.413																																																	1	Substitution - coding silent(1)	kidney(1)											118.0	97.0	104.0					1																	57351710		2203	4300	6503	SO:0001819	synonymous_variant	731			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.966A>T	1.37:g.57351710A>T			A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	CCDS606.1																																																																																				0.413	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1		NM_000562	
COA6	388753	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	234509989	234509989	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr1:234509989G>T	ENST00000366613.1	+	2	172	c.136G>T	c.(136-138)Gga>Tga	p.G46*	COA6_ENST00000366612.1_5'UTR|RP5-827C21.4_ENST00000451795.1_RNA|RP5-827C21.6_ENST00000610233.1_RNA|COA6_ENST00000366615.4_Nonsense_Mutation_p.G76*	NM_001012985.2	NP_001013003.1	Q5JTJ3	COA6_HUMAN	cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)	46						mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|poly(A) RNA binding (GO:0044822)	p.G46*(1)									CATCGCAGTAGGAATGGCAGC	0.438																																																	1	Substitution - Nonsense(1)	kidney(1)											55.0	63.0	61.0					1																	234509989		2203	4300	6503	SO:0001587	stop_gained	0				CCDS31059.1, CCDS55690.1	1q42.2	2012-10-15	2012-10-15	2012-10-15	ENSG00000168275	ENSG00000168275		"""Mitochondrial respiratory chain complex assembly factors"""	18025	protein-coding gene	gene with protein product		614772	"""chromosome 1 open reading frame 31"""	C1orf31		22984289	Standard	NM_001012985		Approved		uc001hwc.3	Q5JTJ3	OTTHUMG00000037945	ENST00000366613.1:c.136G>T	1.37:g.234509989G>T	ENSP00000355572:p.Gly46*		Q5JTJ2|Q5JTJ4|Q8TA88	Nonsense_Mutation	SNP	ENST00000366613.1	37	CCDS31059.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295101	0.81025	.	.	ENSG00000168275	ENST00000366615;ENST00000424237;ENST00000366613	.	.	.	4.8	3.8	0.43715	.	0.536654	0.16356	N	0.217997	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.1624	0.31207	0.1902:0.0:0.8098:0.0	.	.	.	.	X	76;77;46	.	ENSP00000355572:G46X	G	+	1	0	C1orf31	232576612	0.961000	0.32948	0.939000	0.37840	0.593000	0.36681	2.188000	0.42612	2.469000	0.83416	0.655000	0.94253	GGA		0.438	COA6-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092613.1		NM_001012985	
CDC40	51362	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	110501714	110501714	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr6:110501714G>A	ENST00000368932.1	+	2	168	c.67G>A	c.(67-69)Gac>Aac	p.D23N	WASF1_ENST00000392586.1_5'Flank|WASF1_ENST00000392588.1_5'Flank|WASF1_ENST00000392589.1_5'Flank|CDC40_ENST00000368930.1_Missense_Mutation_p.D23N|CDC40_ENST00000307731.1_Missense_Mutation_p.D23N|WASF1_ENST00000392587.2_5'Flank|WASF1_ENST00000359451.2_5'Flank			O60508	PRP17_HUMAN	cell division cycle 40	23					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.D23N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		ATCGGACTCGGACAGTGAGAG	0.592																																																	1	Substitution - Missense(1)	kidney(1)											58.0	55.0	56.0					6																	110501714		2203	4300	6503	SO:0001583	missense	51362			AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.67G>A	6.37:g.110501714G>A	ENSP00000357928:p.Asp23Asn		B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	CCDS5081.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114759	0.77210	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731;ENST00000439165	T;T;T;T	0.61627	0.22;0.09;0.09;0.22	5.54	5.54	0.83059	.	0.200018	0.52532	D	0.000069	T	0.53899	0.1825	N	0.24115	0.695	0.52501	D	0.999955	D	0.63880	0.993	D	0.68192	0.956	T	0.49670	-0.8915	10	0.30854	T	0.27	-8.4761	16.5155	0.84299	0.0:0.0:1.0:0.0	.	23	O60508	PRP17_HUMAN	N	23	ENSP00000357928:D23N;ENSP00000357929:D23N;ENSP00000357926:D23N;ENSP00000304370:D23N	ENSP00000304370:D23N	D	+	1	0	CDC40	110608407	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.761000	0.62243	2.884000	0.98904	0.655000	0.94253	GAC		0.592	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1		NM_015891	
CSNK1A1	1452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	148904678	148904678	+	Missense_Mutation	SNP	C	C	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr5:148904678C>A	ENST00000377843.2	-	3	766	c.287G>T	c.(286-288)aGc>aTc	p.S96I	CSNK1A1_ENST00000515768.1_Missense_Mutation_p.S96I|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.S7I|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.S7I|CSNK1A1_ENST00000261798.5_Missense_Mutation_p.S96I	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	96	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S96I(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GTCTTCGAGGCTAGGTCCCAG	0.363																																					Colon(5;64 69 1309 10383)												2	Substitution - Missense(2)	kidney(2)											67.0	66.0	67.0					5																	148904678		2179	4292	6471	SO:0001583	missense	1452			AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.287G>T	5.37:g.148904678C>A	ENSP00000367074:p.Ser96Ile		D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Missense_Mutation	SNP	ENST00000377843.2	37	CCDS47303.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456778	0.96223	.	.	ENSG00000113712	ENST00000261798;ENST00000377843;ENST00000504676;ENST00000515435;ENST00000322237;ENST00000515768	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.73094	0.3543	H	0.99368	4.535	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.996;0.999;0.997;0.984;0.997	D	0.85132	0.0975	10	0.87932	D	0	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	7;96;96;96;7	B4DER9;Q71TU5;P48729;P48729-2;D6REM4	.;.;KC1A_HUMAN;.;.	I	96;96;7;7;96;96	ENSP00000261798:S96I;ENSP00000367074:S96I;ENSP00000426747:S7I;ENSP00000427031:S7I;ENSP00000421689:S96I	ENSP00000261798:S96I	S	-	2	0	CSNK1A1	148884871	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	AGC		0.363	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_001892	
CTH	1491	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	70896063	70896063	+	Missense_Mutation	SNP	G	G	A	rs147044875		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr1:70896063G>A	ENST00000370938.3	+	7	854	c.710G>A	c.(709-711)cGt>cAt	p.R237H	CTH_ENST00000346806.2_Missense_Mutation_p.R193H|CTH_ENST00000411986.2_Missense_Mutation_p.R205H|CTH_ENST00000464926.1_3'UTR	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.R237H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AATAGACTTCGTTTCTTGCAA	0.343																																																	1	Substitution - Missense(1)	kidney(1)						G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	99.0	99.0	99.0		614,710,578	3.5	1.0	1	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CTH	NM_001190463.1,NM_001902.5,NM_153742.4	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	205/374,237/406,193/362	70896063	1,13005	2203	4300	6503	SO:0001583	missense	1491			BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.710G>A	1.37:g.70896063G>A	ENSP00000359976:p.Arg237His		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	37	CCDS650.1	.	.	.	.	.	.	.	.	.	.	G	5.387	0.256627	0.10185	0.0	1.16E-4	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	D;D;D	0.82711	-1.64;-1.64;-1.64	5.45	3.47	0.39725	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.154309	0.56097	D	0.000033	T	0.60353	0.2262	L	0.60455	1.87	0.32160	N	0.583024	B;B;B	0.32731	0.382;0.218;0.325	B;B;B	0.29785	0.094;0.083;0.107	T	0.51450	-0.8704	10	0.14656	T	0.56	-16.4804	5.8082	0.18452	0.1908:0.1716:0.6376:0.0	.	205;193;237	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	H	205;237;193	ENSP00000413407:R205H;ENSP00000359976:R237H;ENSP00000311554:R193H	ENSP00000311554:R193H	R	+	2	0	CTH	70668651	1.000000	0.71417	0.976000	0.42696	0.086000	0.17979	3.131000	0.50515	2.732000	0.93576	0.650000	0.86243	CGT		0.343	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1		NM_001902	
CUL3	8452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	225342980	225342980	+	Silent	SNP	T	T	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr2:225342980T>C	ENST00000264414.4	-	15	2450	c.2112A>G	c.(2110-2112)gaA>gaG	p.E704E	CUL3_ENST00000344951.4_Silent_p.E638E|CUL3_ENST00000409096.1_Silent_p.E680E|CUL3_ENST00000409777.1_Silent_p.E680E	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	704					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.E704E(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTATAGCAGCTTCTATCTCAT	0.403																																																	1	Substitution - coding silent(1)	kidney(1)											199.0	180.0	186.0					2																	225342980		2203	4300	6503	SO:0001819	synonymous_variant	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.2112A>G	2.37:g.225342980T>C			A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Silent	SNP	ENST00000264414.4	37	CCDS2462.1																																																																																				0.403	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			
CYP2E1	1571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	135347393	135347393	+	Missense_Mutation	SNP	A	A	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr10:135347393A>C	ENST00000463117.2	+	8	1231	c.959A>C	c.(958-960)gAg>gCg	p.E320A	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.E320A			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	320					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	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, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|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)	p.E320A(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AAATACCCTGAGATTGAAGGT	0.542									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								1	Substitution - Missense(1)	kidney(1)											115.0	100.0	106.0					10																	135347393		2203	4300	6503	SO:0001583	missense	1571	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.959A>C	10.37:g.135347393A>C	ENSP00000440689:p.Glu320Ala		Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699132	0.68501	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;D	0.81739	4.74;4.74;2.37;-1.53	4.12	4.12	0.48240	.	0.515339	0.23466	N	0.047861	D	0.83788	0.5330	M	0.81112	2.525	0.30241	N	0.795043	P;P	0.43094	0.737;0.799	B;P	0.46825	0.368;0.528	D	0.84219	0.0460	10	0.87932	D	0	.	11.7939	0.52088	1.0:0.0:0.0:0.0	.	216;320	Q59EW1;P05181	.;CP2E1_HUMAN	A	320;320;233;183	ENSP00000440689:E320A;ENSP00000252945:E320A;ENSP00000412754:E233A;ENSP00000397299:E183A	ENSP00000252945:E320A	E	+	2	0	CYP2E1	135197383	0.998000	0.40836	0.718000	0.30602	0.845000	0.48019	8.220000	0.89772	2.103000	0.63969	0.486000	0.48141	GAG		0.542	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2		NM_000773	
DDX24	57062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94528593	94528593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr14:94528593G>A	ENST00000330836.5	-	3	1224	c.1093C>T	c.(1093-1095)Cag>Tag	p.Q365*	DDX24_ENST00000555054.1_Nonsense_Mutation_p.Q322*|DDX24_ENST00000544005.1_Nonsense_Mutation_p.Q115*	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	365	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.Q365*(1)		cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTTCCAGTCTGCTCTTTATCA	0.478																																																	1	Substitution - Nonsense(1)	kidney(1)											161.0	146.0	151.0					14																	94528593		2203	4300	6503	SO:0001587	stop_gained	57062			AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1093C>T	14.37:g.94528593G>A	ENSP00000328690:p.Gln365*		E7EMJ4|Q4V9L5	Nonsense_Mutation	SNP	ENST00000330836.5	37	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480650	0.63849	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000555054;ENST00000542247	.	.	.	5.49	3.54	0.40534	.	0.872025	0.10487	N	0.668805	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-21.2915	11.0127	0.47671	0.0:0.3444:0.5423:0.1132	.	.	.	.	X	365;115;310;322;322	.	ENSP00000328690:Q365X	Q	-	1	0	DDX24	93598346	0.006000	0.16342	0.019000	0.16419	0.026000	0.11368	0.343000	0.19944	1.433000	0.47394	0.655000	0.94253	CAG		0.478	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1		NM_020414	
ERBB2IP	55914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	65350483	65350483	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr5:65350483G>A	ENST00000284037.5	+	21	3726	c.3337G>A	c.(3337-3339)Gcg>Acg	p.A1113T	ERBB2IP_ENST00000508515.1_Missense_Mutation_p.A1113T|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.A1113T|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.A1113T|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.A1109T|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.A1113T|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.A1113T|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.A1113T|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.A1113T	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1113					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.A1113T(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GTTCCACTCAGCGGGAAGAAC	0.493																																																	1	Substitution - Missense(1)	kidney(1)											59.0	56.0	57.0					5																	65350483		2203	4300	6503	SO:0001583	missense	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3337G>A	5.37:g.65350483G>A	ENSP00000284037:p.Ala1113Thr		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	CCDS58953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.95|11.95	1.791822|1.791822	0.31685|0.31685	.|.	.|.	ENSG00000112851|ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515|ENST00000511671	T;T;T;T;T;T;T;T;T|T	0.38240|0.31510	1.38;1.38;1.38;1.57;1.15;1.45;1.38;1.41;1.15|1.49	5.76|5.76	3.97|3.97	0.46021|0.46021	.|.	0.551531|.	0.20611|.	N|.	0.088970|.	T|T	0.21761|0.21761	0.0524|0.0524	N|N	0.14661|0.14661	0.345|0.345	0.21719|0.21719	N|N	0.999571|0.999571	B;B;B;B;B;B;B|.	0.15930|.	0.015;0.009;0.005;0.005;0.006;0.015;0.015|.	B;B;B;B;B;B;B|.	0.26310|.	0.068;0.031;0.027;0.011;0.006;0.046;0.046|.	T|T	0.15867|0.15867	-1.0422|-1.0422	10|7	0.22109|0.72032	T|D	0.4|0.01	.|.	7.7853|7.7853	0.29089|0.29089	0.2724:0.0:0.7276:0.0|0.2724:0.0:0.7276:0.0	.|.	1113;1113;1113;1109;1113;1113;1113|.	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2|.	.;.;.;.;LAP2_HUMAN;.;.|.	T|N	1113;1113;1113;1113;1113;1113;1109;1113;1113|8	ENSP00000284037:A1113T;ENSP00000370330:A1113T;ENSP00000370326:A1113T;ENSP00000370323:A1113T;ENSP00000370322:A1113T;ENSP00000370325:A1113T;ENSP00000422766:A1109T;ENSP00000426632:A1113T;ENSP00000422015:A1113T|ENSP00000425728:S8N	ENSP00000284037:A1113T|ENSP00000425728:S8N	A|S	+|+	1|2	0|0	ERBB2IP|ERBB2IP	65386239|65386239	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.371000|2.371000	0.44248|0.44248	1.436000|1.436000	0.47453|0.47453	0.650000|0.650000	0.86243|0.86243	GCG|AGC		0.493	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1		NM_018695	
ESPL1	9700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53685545	53685545	+	Silent	SNP	C	C	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr12:53685545C>G	ENST00000257934.4	+	26	5683	c.5592C>G	c.(5590-5592)acC>acG	p.T1864T	ESPL1_ENST00000552462.1_Silent_p.T1864T	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1864					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.T1864T(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGTGCCCAACCCAGCCAGAGC	0.602																																					Colon(53;1069 1201 2587 5382)												1	Substitution - coding silent(1)	kidney(1)											134.0	130.0	131.0					12																	53685545		2203	4300	6503	SO:0001819	synonymous_variant	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5592C>G	12.37:g.53685545C>G				Silent	SNP	ENST00000257934.4	37	CCDS8852.1																																																																																				0.602	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2		NM_012291	
FANCM	57697	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	45639810	45639810	+	Missense_Mutation	SNP	T	T	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr14:45639810T>C	ENST00000267430.5	+	12	2106	c.2021T>C	c.(2020-2022)cTa>cCa	p.L674P	FANCM_ENST00000542564.2_Missense_Mutation_p.L648P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	674					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.L674P(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CAAAGTAGCCTAAAGAAAGAT	0.303								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								1	Substitution - Missense(1)	kidney(1)											44.0	48.0	46.0					14																	45639810		2201	4297	6498	SO:0001583	missense	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2021T>C	14.37:g.45639810T>C	ENSP00000267430:p.Leu674Pro		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	T	2.273	-0.366436	0.05069	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.18657	2.78;2.78;2.2	5.35	1.44	0.22558	.	2.644850	0.00763	N	0.001158	T	0.18635	0.0447	L	0.43152	1.355	0.42913	D	0.994264	P;B	0.36086	0.536;0.403	B;B	0.28232	0.087;0.07	T	0.07927	-1.0747	10	0.33940	T	0.23	.	8.0501	0.30572	0.0:0.5768:0.0:0.4232	.	648;674	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	P	674;648;190	ENSP00000267430:L674P;ENSP00000442493:L648P;ENSP00000452033:L190P	ENSP00000267430:L674P	L	+	2	0	FANCM	44709560	0.002000	0.14202	0.341000	0.25589	0.151000	0.21798	-0.041000	0.12084	0.219000	0.20840	-0.366000	0.07423	CTA		0.303	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1		XM_048128	
FILIP1L	11259	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	99568696	99568696	+	Silent	SNP	A	A	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr3:99568696A>G	ENST00000354552.3	-	5	2294	c.1824T>C	c.(1822-1824)aaT>aaC	p.N608N	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Silent_p.N368N|FILIP1L_ENST00000331335.5_Silent_p.N608N|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Silent_p.N368N|FILIP1L_ENST00000487087.1_Silent_p.N184N	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	608						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.N608N(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CAGAGTCTTGATTTAATTTGT	0.343																																																	2	Substitution - coding silent(2)	kidney(2)											124.0	115.0	118.0					3																	99568696		1827	4077	5904	SO:0001819	synonymous_variant	11259				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.1824T>C	3.37:g.99568696A>G			B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Silent	SNP	ENST00000354552.3	37	CCDS43117.1																																																																																				0.343	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1		NM_014890	
GABRG1	2565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	46043110	46043110	+	Silent	SNP	C	C	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr4:46043110C>T	ENST00000295452.4	-	9	1460	c.1293G>A	c.(1291-1293)agG>agA	p.R431R		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	431					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R431R(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTATGTGTATCCTTCCTTCCC	0.413																																																	1	Substitution - coding silent(1)	kidney(1)											131.0	132.0	132.0					4																	46043110		2203	4300	6503	SO:0001819	synonymous_variant	2565			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1293G>A	4.37:g.46043110C>T			Q5H9T8	Silent	SNP	ENST00000295452.4	37	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	9.941	1.217595	0.22373	.	.	ENSG00000163285	ENST00000540030	.	.	.	5.49	-0.0163	0.13973	.	.	.	.	.	T	0.47985	0.1475	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21042	-1.0257	5	0.17369	T	0.5	.	9.5685	0.39414	0.0:0.4397:0.0:0.5603	.	.	.	.	N	412	.	ENSP00000445441:D412N	D	-	1	0	GABRG1	45737867	0.962000	0.33011	0.979000	0.43373	0.988000	0.76386	0.158000	0.16422	0.010000	0.14839	0.585000	0.79938	GAT		0.413	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1		NM_173536	
GBX2	2637	broad.mit.edu	37	2	237076427	237076435	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs557135639|rs559648034	byFrequency	TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	GGCGGCGGC	GGCGGCGGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr2:237076427_237076435delGGCGGCGGC	ENST00000306318.4	-	1	577_585	c.180_188delGCCGCCGCC	c.(178-189)ccgccgccgccc>ccc	p.60_63PPPP>P	AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000465889.1_5'Flank|GBX2_ENST00000551105.1_In_Frame_Del_p.60_63PPPP>P|AC079135.1_ENST00000483218.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	60	Poly-Pro.				autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGGCAGCGCGggcggcggcggcggcggcg	0.746														4	0.000798722	0.0	0.0014	5008	,	,		8296	0.0		0.0	False		,,,				2504	0.0031																0										13,20,1327		6,0,1,5,10,658						2.9	1.0			4	29,61,3590		11,0,7,20,21,1781	no	codingComplex	GBX2	NM_001485.2		17,0,8,25,31,2439	A1A1,A1A2,A1R,A2A2,A2R,RR		2.4457,2.4265,2.4405				42,81,4917				SO:0001651	inframe_deletion	2637			AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.180_188delGCCGCCGCC	2.37:g.237076436_237076444delGGCGGCGGC	ENSP00000302251:p.Pro60_Pro62del		B2RPH7|O43833|Q53RX5|Q9Y5Y1	In_Frame_Del	DEL	ENST00000306318.4	37	CCDS2515.1																																																																																				0.746	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3		NM_001485	
GFOD1	54438	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	13365468	13365468	+	Missense_Mutation	SNP	A	A	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr6:13365468A>G	ENST00000379287.3	-	2	1344	c.680T>C	c.(679-681)cTg>cCg	p.L227P	GFOD1_ENST00000379284.1_Missense_Mutation_p.L124P	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	227						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.L227P(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			CCCGCCCTCCAGCACCATCTG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											89.0	77.0	81.0					6																	13365468		2203	4300	6503	SO:0001583	missense	54438			AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.680T>C	6.37:g.13365468A>G	ENSP00000368589:p.Leu227Pro		A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.154288	0.78114	.	.	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.47869	0.83;0.83	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000001	T	0.56093	0.1962	L	0.55213	1.73	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	T	0.61633	-0.7023	10	0.87932	D	0	-13.8618	15.2091	0.73206	1.0:0.0:0.0:0.0	.	227	Q9NXC2	GFOD1_HUMAN	P	227;124	ENSP00000368589:L227P;ENSP00000368586:L124P	ENSP00000368586:L124P	L	-	2	0	GFOD1	13473447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.335000	0.96500	2.173000	0.68751	0.528000	0.53228	CTG		0.617	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1		NM_018988	
HCAR2	338442	broad.mit.edu;hgsc.bcm.edu	37	12	123187634	123187635	+	Nonsense_Mutation	DNP	AG	AG	TA			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr12:123187634_123187635AG>TA	ENST00000328880.5	-	1	255_256	c.196_197CT>TA	c.(196-198)CTg>TAg	p.L66*	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	66					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)	p.L66Q(1)|p.L66*(1)|p.L66L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	CAGGTTGAACAGGAAAATCCGG	0.53																																																	3	Substitution - Missense(1)|Substitution - Nonsense(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001587	stop_gained	0			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.196_197delinsTA	12.37:g.123187634_123187635delinsTA	ENSP00000375066:p.Leu66*		A0PJL5|A7LGG3	Missense_Mutation|Silent	SNP	ENST00000328880.5	37	CCDS9235.1																																																																																				0.530	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1		NM_177551	
GOLGA3	2802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133354283	133354283	+	Missense_Mutation	SNP	G	G	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr12:133354283G>T	ENST00000450791.2	-	18	3874	c.3691C>A	c.(3691-3693)Cag>Aag	p.Q1231K	GOLGA3_ENST00000204726.3_Missense_Mutation_p.Q1231K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Q1231K			Q08378	GOGA3_HUMAN	golgin A3	1231	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.Q1231K(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGCAGCTTCTGCACCAGGTGT	0.632																																																	1	Substitution - Missense(1)	kidney(1)											68.0	60.0	62.0					12																	133354283		2203	4300	6503	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3691C>A	12.37:g.133354283G>T	ENSP00000410378:p.Gln1231Lys		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069669	0.55539	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.78364	-1.17;-1.17;1.97	5.59	5.59	0.84812	.	0.216583	0.48286	D	0.000194	T	0.70228	0.3200	L	0.47716	1.5	0.80722	D	1	P;B	0.37207	0.587;0.052	B;B	0.32465	0.146;0.011	T	0.68157	-0.5483	10	0.10377	T	0.69	.	19.577	0.95449	0.0:0.0:1.0:0.0	.	1231;1231	Q08378-2;Q08378	.;GOGA3_HUMAN	K	1231	ENSP00000204726:Q1231K;ENSP00000410378:Q1231K;ENSP00000409303:Q1231K	ENSP00000204726:Q1231K	Q	-	1	0	GOLGA3	131864356	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.660000	0.68018	2.631000	0.89168	0.561000	0.74099	CAG		0.632	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2		NM_005895	
INTS1	26173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	1523722	1523722	+	Missense_Mutation	SNP	C	C	A	rs369814462		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr7:1523722C>A	ENST00000404767.3	-	25	3431	c.3346G>T	c.(3346-3348)Gtg>Ttg	p.V1116L	INTS1_ENST00000389470.4_Missense_Mutation_p.V1278L	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1116					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.V1278L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCGCTCAGCACGGCGTCCGAC	0.657																																																	1	Substitution - Missense(1)	kidney(1)											81.0	92.0	88.0					7																	1523722		2165	4251	6416	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3346G>T	7.37:g.1523722C>A	ENSP00000385722:p.Val1116Leu		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857305	0.71834	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.68181	-0.31;-0.31	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.71643	0.3364	L	0.40543	1.245	0.80722	D	1	P;P	0.43578	0.811;0.811	P;P	0.54346	0.749;0.591	T	0.70615	-0.4823	10	0.37606	T	0.19	.	17.8815	0.88842	0.0:1.0:0.0:0.0	.	1284;1116	A4D213;Q8N201	.;INT1_HUMAN	L	1116;1278	ENSP00000385722:V1116L;ENSP00000374121:V1278L	ENSP00000374121:V1278L	V	-	1	0	INTS1	1490248	1.000000	0.71417	0.299000	0.25016	0.458000	0.32498	7.433000	0.80362	2.226000	0.72624	0.462000	0.41574	GTG		0.657	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			
GPR85	54329	broad.mit.edu	37	7	112724827	112724827	+	De_novo_Start_OutOfFrame	SNP	T	T	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr7:112724827T>C	ENST00000297146.3	-	0	553				GPR85_ENST00000501255.2_De_novo_Start_OutOfFrame|GPR85_ENST00000449591.1_De_novo_Start_OutOfFrame|GPR85_ENST00000424100.1_De_novo_Start_OutOfFrame|GPR85_ENST00000487573.1_5'UTR	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85						signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ATGATCTAGATATAAGAACAA	0.393																																																	0													11.0	11.0	11.0					7																	112724827		2174	4268	6442			54329			AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.-51A>G	7.37:g.112724827T>C			Q9JHI6|Q9NPD1	Translation_Start_Site	SNP	ENST00000297146.3	37	CCDS5758.1																																																																																				0.393	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			
LYSMD4	145748	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	100269896	100269896	+	Missense_Mutation	SNP	T	T	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr15:100269896T>G	ENST00000409796.1	-	3	385	c.323A>C	c.(322-324)cAa>cCa	p.Q108P	LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000344791.2_Missense_Mutation_p.Q109P|LYSMD4_ENST00000545021.1_5'UTR|LYSMD4_ENST00000332728.4_Missense_Mutation_p.Q108P	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	108						integral component of membrane (GO:0016021)		p.Q109P(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			ATATAAGTCTTGTTCTCTGAT	0.403																																																	1	Substitution - Missense(1)	kidney(1)											58.0	57.0	57.0					15																	100269896		2203	4300	6503	SO:0001583	missense	145748			BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.323A>C	15.37:g.100269896T>G	ENSP00000386283:p.Gln108Pro		A6NII6|A8K2N1|Q96LY7	Missense_Mutation	SNP	ENST00000409796.1	37		.	.	.	.	.	.	.	.	.	.	T	21.5	4.153466	0.78114	.	.	ENSG00000183060	ENST00000409796;ENST00000344791;ENST00000332728;ENST00000450512	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	4.73	4.73	0.59995	Peptidoglycan-binding Lysin subgroup (1);	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.991;0.999	T	0.69803	-0.5046	10	0.56958	D	0.05	-0.5176	14.5161	0.67821	0.0:0.0:0.0:1.0	.	109;108	Q5XG99-2;Q5XG99	.;LYSM4_HUMAN	P	108;109;108;104	ENSP00000386283:Q108P;ENSP00000342840:Q109P;ENSP00000333008:Q108P;ENSP00000400054:Q104P	ENSP00000333008:Q108P	Q	-	2	0	LYSMD4	98087419	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.638000	0.83328	1.884000	0.54569	0.533000	0.62120	CAA		0.403	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1		NM_152449	
MAP1S	55201	broad.mit.edu;hgsc.bcm.edu	37	19	17837059	17837059	+	Missense_Mutation	SNP	T	T	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr19:17837059T>C	ENST00000324096.4	+	5	1017	c.866T>C	c.(865-867)cTg>cCg	p.L289P	MAP1S_ENST00000597681.1_Intron|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.L263P	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	289	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.L289P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GATGCCGTGCTGGTGACCCAC	0.672																																																	1	Substitution - Missense(1)	kidney(1)											25.0	21.0	22.0					19																	17837059		2203	4297	6500	SO:0001583	missense	55201			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.866T>C	19.37:g.17837059T>C	ENSP00000325313:p.Leu289Pro		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.897846	0.52227	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.29655	1.56;1.56	4.26	4.26	0.50523	.	0.000000	0.38217	N	0.001773	T	0.55433	0.1920	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.61148	-0.7121	10	0.87932	D	0	-19.9764	11.312	0.49368	0.0:0.0:0.0:1.0	.	263;289;289	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	P	289;263	ENSP00000325313:L289P;ENSP00000439243:L263P	ENSP00000325313:L289P	L	+	2	0	MAP1S	17698059	1.000000	0.71417	0.947000	0.38551	0.063000	0.16089	7.853000	0.86934	1.554000	0.49487	0.379000	0.24179	CTG		0.672	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1		NM_018174	
MAP4K4	9448	broad.mit.edu	37	2	102486844	102486844	+	Silent	SNP	C	C	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr2:102486844C>G	ENST00000347699.4	+	21	2484	c.2484C>G	c.(2482-2484)acC>acG	p.T828T	MAP4K4_ENST00000413150.2_Silent_p.T743T|MAP4K4_ENST00000350198.4_Silent_p.T747T|MAP4K4_ENST00000456652.1_Silent_p.T627T|MAP4K4_ENST00000498066.1_3'UTR|MAP4K4_ENST00000324219.4_Silent_p.T909T|MAP4K4_ENST00000350878.4_Silent_p.T804T|MAP4K4_ENST00000302217.5_Silent_p.T631T|MAP4K4_ENST00000425019.1_Silent_p.T797T	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	828					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.T909T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CGGCCATGACCCCATCCAAGG	0.483																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	72.0	71.0					2																	102486844		1963	4160	6123	SO:0001819	synonymous_variant	9448			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2484C>G	2.37:g.102486844C>G			O75172|Q9NST7	Silent	SNP	ENST00000347699.4	37	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	C	8.794	0.931344	0.18131	.	.	ENSG00000071054	ENST00000421882	.	.	.	5.34	-2.23	0.06930	.	.	.	.	.	T	0.50103	0.1596	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43261	-0.9402	4	.	.	.	.	6.1104	0.20097	0.0:0.3574:0.2296:0.4129	.	.	.	.	A	645	.	.	P	+	1	0	MAP4K4	101853276	0.011000	0.17503	0.991000	0.47740	0.963000	0.63663	-1.091000	0.03369	-0.249000	0.09569	-0.885000	0.02943	CCC		0.483	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1		NM_004834	
MYO18A	399687	broad.mit.edu;hgsc.bcm.edu	37	17	27493028	27493028	+	Missense_Mutation	SNP	G	G	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr17:27493028G>C	ENST00000527372.1	-	2	1111	c.931C>G	c.(931-933)Cca>Gca	p.P311A	MYO18A_ENST00000354329.4_Missense_Mutation_p.P311A|MYO18A_ENST00000533112.1_Missense_Mutation_p.P311A|MYO18A_ENST00000531253.1_Missense_Mutation_p.P311A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	311	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.P311A(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTGAGCTCTGGAATGGGCTGC	0.617																																					Esophageal Squamous(182;472 2015 7001 15270 22562)												2	Substitution - Missense(2)	kidney(2)											58.0	66.0	63.0					17																	27493028		2198	4294	6492	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.931C>G	17.37:g.27493028G>C	ENSP00000437073:p.Pro311Ala		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	0.610	-0.825273	0.02755	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372	D;D;D;D	0.87491	-2.15;-2.26;-2.15;-2.15	5.31	5.31	0.75309	PDZ/DHR/GLGF (3);	0.069122	0.64402	D	0.000006	T	0.80660	0.4665	L	0.58669	1.825	0.42665	D	0.993492	B;B;B	0.30406	0.228;0.228;0.278	B;B;B	0.27796	0.083;0.083;0.057	T	0.72795	-0.4185	10	0.06236	T	0.91	.	9.9125	0.41415	0.0733:0.0:0.7862:0.1405	.	311;311;311	Q92614-3;Q92614-4;Q92614	.;.;MY18A_HUMAN	A	311	ENSP00000346291:P311A;ENSP00000435932:P311A;ENSP00000434228:P311A;ENSP00000437073:P311A	ENSP00000346291:P311A	P	-	1	0	MYO18A	24517154	1.000000	0.71417	0.998000	0.56505	0.568000	0.35870	4.263000	0.58853	2.755000	0.94549	0.563000	0.77884	CCA		0.617	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1		NM_078471	
NCAPH2	29781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50960640	50960640	+	Missense_Mutation	SNP	A	A	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr22:50960640A>C	ENST00000420993.2	+	14	1315	c.1193A>C	c.(1192-1194)aAg>aCg	p.K398T	NCAPH2_ENST00000395701.3_Missense_Mutation_p.K398T|NCAPH2_ENST00000520297.1_3'UTR|NCAPH2_ENST00000299821.11_Missense_Mutation_p.K398T|CTA-384D8.36_ENST00000608319.1_RNA	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	398					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)		p.K398T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		ACACACGTGAAGGAGCAGTTG	0.612																																																	1	Substitution - Missense(1)	kidney(1)											74.0	78.0	77.0					22																	50960640		2203	4300	6503	SO:0001583	missense	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1193A>C	22.37:g.50960640A>C	ENSP00000410088:p.Lys398Thr		B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	CCDS14094.2	.	.	.	.	.	.	.	.	.	.	A	14.30	2.494180	0.44352	.	.	ENSG00000025770	ENST00000420993;ENST00000395701;ENST00000299821	.	.	.	4.93	-4.14	0.03892	.	1.019470	0.07804	N	0.957029	T	0.45915	0.1366	L	0.55481	1.735	0.24192	N	0.995542	P;P;P	0.36683	0.51;0.51;0.565	B;B;B	0.40825	0.23;0.23;0.341	T	0.49634	-0.8919	9	0.48119	T	0.1	-6.7668	12.8429	0.57813	0.8688:0.0:0.1312:0.0	.	398;376;398	Q6IBW4-4;Q6IBW4-2;Q6IBW4	.;.;CNDH2_HUMAN	T	398	.	ENSP00000299821:K398T	K	+	2	0	NCAPH2	49307506	0.116000	0.22171	0.044000	0.18714	0.418000	0.31294	-0.157000	0.10085	-1.363000	0.02164	-0.326000	0.08463	AAG		0.612	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1		NM_152299	
NFATC4	4776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24839730	24839730	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr14:24839730G>A	ENST00000250373.4	+	2	1267	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N	NFATC4_ENST00000554344.1_Missense_Mutation_p.D306N|NFATC4_ENST00000553879.1_Missense_Mutation_p.D306N|NFATC4_ENST00000539237.2_Missense_Mutation_p.D408N|NFATC4_ENST00000554591.1_Missense_Mutation_p.D439N|NFATC4_ENST00000424781.2_Missense_Mutation_p.D389N|NFATC4_ENST00000556169.1_Missense_Mutation_p.D364N|NFATC4_ENST00000553708.1_Missense_Mutation_p.D376N|NFATC4_ENST00000554966.1_Missense_Mutation_p.D389N|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000555590.1_Missense_Mutation_p.D389N|NFATC4_ENST00000413692.2_Missense_Mutation_p.D439N|NFATC4_ENST00000554661.1_Missense_Mutation_p.D306N|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000553469.1_Missense_Mutation_p.D408N|NFATC4_ENST00000555453.1_Missense_Mutation_p.D364N|NFATC4_ENST00000557451.1_Missense_Mutation_p.D306N|NFATC4_ENST00000556279.1_Missense_Mutation_p.D408N|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000422617.3_Missense_Mutation_p.D364N|NFATC4_ENST00000554050.1_Missense_Mutation_p.D376N	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	376					cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)	p.D439N(1)|p.D376N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GGCTGGCATGGACTACCTGGC	0.637																																																	2	Substitution - Missense(2)	kidney(2)											49.0	44.0	46.0					14																	24839730		2203	4300	6503	SO:0001583	missense	4776			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1126G>A	14.37:g.24839730G>A	ENSP00000250373:p.Asp376Asn		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176454	0.78564	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.10382	3.21;3.23;3.21;3.24;3.22;3.21;3.2;3.23;3.24;3.21;3.22;2.89;2.89;2.92;2.91;2.9;2.89;2.88	4.58	4.58	0.56647	.	0.065273	0.64402	D	0.000014	T	0.21307	0.0513	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;P	0.69078	0.969;0.969;0.97;0.988;0.97;0.97;0.969;0.988;0.988;0.969;0.97;0.997;0.97;0.949	P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.61201	0.785;0.785;0.839;0.844;0.839;0.885;0.785;0.844;0.844;0.785;0.885;0.879;0.839;0.694	T	0.00386	-1.1772	10	0.44086	T	0.13	-11.3754	15.2442	0.73493	0.0:0.0:1.0:0.0	.	364;364;408;408;389;389;389;439;439;364;408;353;439;376	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	N	439;439;389;389;389;408;408;408;376;376;376;306;306;306;364;306;364;364	ENSP00000388910:D439N;ENSP00000452039:D439N;ENSP00000451224:D389N;ENSP00000450644:D389N;ENSP00000388668:D389N;ENSP00000439350:D408N;ENSP00000452270:D408N;ENSP00000451502:D408N;ENSP00000451151:D376N;ENSP00000250373:D376N;ENSP00000450590:D376N;ENSP00000452349:D306N;ENSP00000450469:D306N;ENSP00000450733:D306N;ENSP00000451454:D364N;ENSP00000451284:D306N;ENSP00000396788:D364N;ENSP00000450686:D364N	ENSP00000250373:D376N	D	+	1	0	NFATC4	23909570	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.877000	0.48506	2.531000	0.85337	0.591000	0.81541	GAC		0.637	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6		NM_004554	
NLRP5	126206	broad.mit.edu	37	19	56539568	56539568	+	Missense_Mutation	SNP	G	G	A	rs370513314		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr19:56539568G>A	ENST00000390649.3	+	7	1969	c.1969G>A	c.(1969-1971)Gtt>Att	p.V657I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	657					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.V657I(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGGCTGTCCCGTTCCCCTGGG	0.597																																																	2	Substitution - Missense(2)	kidney(1)|central_nervous_system(1)						G	ILE/VAL	0,3966		0,0,1983	62.0	65.0	64.0		1969	-0.3	0.0	19		64	1,8307		0,1,4153	no	missense	NLRP5	NM_153447.4	29	0,1,6136	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging	657/1201	56539568	1,12273	1983	4154	6137	SO:0001583	missense	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1969G>A	19.37:g.56539568G>A	ENSP00000375063:p.Val657Ile		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	9.763	1.170697	0.21621	0.0	1.2E-4	ENSG00000171487	ENST00000390649	D	0.88975	-2.45	3.26	-0.266	0.12942	.	0.497253	0.15090	N	0.281128	T	0.79907	0.4527	L	0.52905	1.665	0.09310	N	1	P	0.43607	0.812	B	0.36845	0.234	T	0.68228	-0.5464	10	0.22109	T	0.4	.	3.4644	0.07544	0.2522:0.2153:0.5325:0.0	.	657	P59047	NALP5_HUMAN	I	657	ENSP00000375063:V657I	ENSP00000375063:V657I	V	+	1	0	NLRP5	61231380	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.169000	0.16641	0.044000	0.15775	-0.258000	0.10820	GTT		0.597	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1		NM_153447	
NOL8	55035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	95062258	95062258	+	Silent	SNP	G	G	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr9:95062258G>C	ENST00000535387.1	-	12	3101	c.3102C>G	c.(3100-3102)gtC>gtG	p.V1034V	NOL8_ENST00000358855.4_Silent_p.V1004V|NOL8_ENST00000542053.1_Silent_p.V1004V|NOL8_ENST00000545558.1_Silent_p.V1072V|NOL8_ENST00000442668.2_Silent_p.V1072V					nucleolar protein 8									p.V1074V(1)|p.V1072V(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTTCCTGCCAGACAATCTTTC	0.408																																																	2	Substitution - coding silent(2)	kidney(2)											242.0	229.0	233.0					9																	95062258		1859	4113	5972	SO:0001819	synonymous_variant	55035			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.3102C>G	9.37:g.95062258G>C				Silent	SNP	ENST00000535387.1	37	CCDS47993.1																																																																																				0.408	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2		NM_017948	
NRIP1	8204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	16338673	16338673	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr21:16338673G>A	ENST00000400202.1	-	3	2553	c.1841C>T	c.(1840-1842)gCc>gTc	p.A614V	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Missense_Mutation_p.A614V|NRIP1_ENST00000400199.1_Missense_Mutation_p.A614V			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	614	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.A614V(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTCATTTTGGGCTGGTTTCTC	0.433																																																	1	Substitution - Missense(1)	kidney(1)											239.0	242.0	241.0					21																	16338673		2202	4299	6501	SO:0001583	missense	8204			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1841C>T	21.37:g.16338673G>A	ENSP00000383063:p.Ala614Val		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.253012	0.00268	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.18810	2.19;2.19;2.19	6.02	-1.16	0.09678	.	1.038430	0.07682	N	0.937232	T	0.09992	0.0245	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38178	-0.9673	10	0.17832	T	0.49	0.9352	1.6925	0.02855	0.2507:0.2066:0.3644:0.1783	.	614	P48552	NRIP1_HUMAN	V	614	ENSP00000383060:A614V;ENSP00000383063:A614V;ENSP00000327213:A614V	ENSP00000327213:A614V	A	-	2	0	NRIP1	15260544	0.039000	0.19947	0.081000	0.20488	0.351000	0.29236	0.147000	0.16202	0.060000	0.16281	-0.127000	0.14921	GCC		0.433	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1		NM_003489	
NUDCD1	84955	hgsc.bcm.edu;ucsc.edu	37	8	110346160	110346161	+	Frame_Shift_Del	DEL	AG	AG	-	rs201844231		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr8:110346160_110346161delAG	ENST00000239690.4	-	1	453_454	c.79_80delCT	c.(79-81)cttfs	p.L27fs	ENY2_ENST00000521662.1_5'Flank|ENY2_ENST00000520147.1_5'Flank|ENY2_ENST00000521688.1_5'Flank	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CAGCGGCTCAAGAGAGAGCTTG	0.624																																																	0																																										SO:0001589	frameshift_variant	84955			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.79_80delCT	8.37:g.110346166_110346167delAG	ENSP00000239690:p.Leu27fs			Frame_Shift_Del	DEL	ENST00000239690.4	37	CCDS6312.1																																																																																				0.624	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1		NM_032869	
NUP98	4928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	3797242	3797242	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr11:3797242G>A	ENST00000324932.7	-	5	785	c.365C>T	c.(364-366)aCc>aTc	p.T122I	NUP98_ENST00000397007.4_Missense_Mutation_p.T122I|NUP98_ENST00000397004.4_Missense_Mutation_p.T122I|NUP98_ENST00000355260.3_Missense_Mutation_p.T122I|NUP98_ENST00000359171.4_Missense_Mutation_p.T122I	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	122	FG repeats 1.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.T122I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GCTAGTACTGGTTCCAAAATC	0.398			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	1	Substitution - Missense(1)	kidney(1)											115.0	126.0	122.0					11																	3797242		2201	4298	6499	SO:0001583	missense	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.365C>T	11.37:g.3797242G>A	ENSP00000316032:p.Thr122Ile		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761659	0.89932	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007;ENST00000532475	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.83945	0.5364	M	0.84511	2.7	0.54753	D	0.999985	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.996;0.991;0.999;0.999	D	0.85623	0.1265	9	0.56958	D	0.05	.	17.8531	0.88754	0.0:0.0:1.0:0.0	.	122;122;122;122;122	P52948;P52948-3;P52948-4;P52948-2;P52948-5	NUP98_HUMAN;.;.;.;.	I	122;122;122;122;122;85	.	ENSP00000316032:T122I	T	-	2	0	NUP98	3753818	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.002000	0.76304	2.573000	0.86826	0.655000	0.94253	ACC		0.398	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3		NM_016320	
OXSM	54995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	25835880	25835880	+	Silent	SNP	T	T	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr3:25835880T>G	ENST00000280701.3	+	3	1374	c.1275T>G	c.(1273-1275)gtT>gtG	p.V425V	OXSM_ENST00000420173.2_Silent_p.V342V	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	425					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.V425V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TCAACTATGTTCCACTAAAGG	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											94.0	99.0	97.0					3																	25835880		2203	4300	6503	SO:0001819	synonymous_variant	54995			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.1275T>G	3.37:g.25835880T>G				Silent	SNP	ENST00000280701.3	37	CCDS2643.1																																																																																				0.393	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2		NM_017897	
P2RX3	5024	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57117325	57117325	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr11:57117325G>A	ENST00000263314.2	+	7	692	c.658G>A	c.(658-660)Gac>Aac	p.D220N		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	220					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)	p.D220N(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GCGGGTAGGGGACGTGGTCAA	0.612											OREG0020966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											75.0	62.0	67.0					11																	57117325		2201	4296	6497	SO:0001583	missense	5024			Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.658G>A	11.37:g.57117325G>A	ENSP00000263314:p.Asp220Asn	1020	Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338255	0.95758	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.05139	3.49	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.25606	0.0623	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00111	-1.2045	10	0.36615	T	0.2	-27.1745	16.9372	0.86206	0.0:0.0:1.0:0.0	.	220	P56373	P2RX3_HUMAN	N	220	ENSP00000263314:D220N	ENSP00000263314:D220N	D	+	1	0	P2RX3	56873901	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	6.236000	0.72339	2.729000	0.93468	0.650000	0.86243	GAC		0.612	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1		NM_002559	
PI4KA	5297	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	21161667	21161667	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr22:21161667G>A	ENST00000572273.1	-	10	1207	c.977C>T	c.(976-978)aCt>aTt	p.T326I	PI4KA_ENST00000255882.6_Missense_Mutation_p.T384I			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	326					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.T326I(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GTAGTACAGAGTGTCACGCAG	0.537																																					GBM(136;1332 1831 3115 23601 50806)												2	Substitution - Missense(2)	kidney(2)											185.0	128.0	147.0					22																	21161667		2203	4300	6503	SO:0001583	missense	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.977C>T	22.37:g.21161667G>A	ENSP00000458238:p.Thr326Ile		Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	G	13.28	2.190537	0.38707	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.24	5.24	0.73138	.	0.048124	0.85682	D	0.000000	T	0.55721	0.1938	L	0.43152	1.355	0.80722	D	1	B;B	0.19331	0.035;0.001	B;B	0.15052	0.012;0.002	T	0.49799	-0.8901	9	0.20046	T	0.44	-12.5314	19.003	0.92841	0.0:0.0:1.0:0.0	.	384;326	D3DX33;P42356	.;PI4KA_HUMAN	I	326	.	ENSP00000255882:T326I	T	-	2	0	PI4KA	19491667	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.529000	0.73812	2.725000	0.93324	0.655000	0.94253	ACT		0.537	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_058004	
PIGT	51604	broad.mit.edu	37	20	44044813	44044813	+	Missense_Mutation	SNP	C	C	T	rs551062552		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr20:44044813C>T	ENST00000279036.6	+	1	97	c.17C>T	c.(16-18)cCg>cTg	p.P6L	PIGT_ENST00000279035.9_Missense_Mutation_p.P6L|PIGT_ENST00000341555.5_Missense_Mutation_p.P6L|PIGT_ENST00000535404.1_5'UTR|PIGT_ENST00000543458.2_Missense_Mutation_p.P6L|PIGT_ENST00000372689.5_Missense_Mutation_p.P6L|PIGT_ENST00000545755.1_5'UTR	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	6					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.P6L(2)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				GCGGCTATGCCGCTTGCTCTG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		14099	0.0		0.0	False		,,,				2504	0.001																2	Substitution - Missense(2)	kidney(2)											5.0	8.0	7.0					20																	44044813		2136	4206	6342	SO:0001583	missense	51604				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.17C>T	20.37:g.44044813C>T	ENSP00000279036:p.Pro6Leu		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	ENST00000279036.6	37	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524481	0.27299	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000455050;ENST00000341555	T;T;T;T;T	0.45276	0.99;1.02;0.9;1.04;0.9	5.65	-3.66	0.04489	.	0.940554	0.08958	N	0.869149	T	0.24624	0.0597	N	0.08118	0	0.80722	D	1	B;B;P;B;B	0.38642	0.33;0.222;0.641;0.222;0.118	B;B;B;B;B	0.26693	0.072;0.033;0.072;0.033;0.016	T	0.36504	-0.9745	10	0.87932	D	0	-11.6378	23.96	0.99987	0.0:0.2652:0.7348:0.0	.	6;6;6;6;6	Q969N2-4;B7Z3N1;Q969N2-2;B7Z7C5;Q969N2	.;.;.;.;PIGT_HUMAN	L	6	ENSP00000441577:P6L;ENSP00000361774:P6L;ENSP00000279035:P6L;ENSP00000279036:P6L;ENSP00000343783:P6L	ENSP00000279035:P6L	P	+	2	0	PIGT	43478227	0.000000	0.05858	0.658000	0.29665	0.383000	0.30230	-2.274000	0.01163	-0.355000	0.08199	0.655000	0.94253	CCG		0.647	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2		NM_015937	
PODNL1	79883	broad.mit.edu	37	19	14043756	14043756	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr19:14043756delA	ENST00000339560.5	-	8	1574	c.1301delT	c.(1300-1302)ctgfs	p.L434fs	PODNL1_ENST00000254320.3_Frame_Shift_Del_p.L352fs|PODNL1_ENST00000538517.2_Frame_Shift_Del_p.L343fs|PODNL1_ENST00000538371.2_Frame_Shift_Del_p.L432fs	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	434	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			TTGCAGCTGCAGGGTGCGCAG	0.716																																																	0													7.0	8.0	8.0					19																	14043756		2150	4225	6375	SO:0001589	frameshift_variant	79883			AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.1301delT	19.37:g.14043756delA	ENSP00000345175:p.Leu434fs		B7Z564|Q9H5G9	Frame_Shift_Del	DEL	ENST00000339560.5	37	CCDS12300.1																																																																																				0.716	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1		NM_024825	
POLQ	10721	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	121208546	121208546	+	Missense_Mutation	SNP	A	A	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr3:121208546A>T	ENST00000264233.5	-	16	3360	c.3232T>A	c.(3232-3234)Tgt>Agt	p.C1078S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1078					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.C1213S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GGGTCTTCACAAAGACTAGGA	0.398								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												1	Substitution - Missense(1)	kidney(1)											57.0	65.0	62.0					3																	121208546		2193	4296	6489	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3232T>A	3.37:g.121208546A>T	ENSP00000264233:p.Cys1078Ser		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	A	3.866	-0.028868	0.07589	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.47177	0.85	4.32	0.0515	0.14298	.	1.026350	0.07674	N	0.935982	T	0.28962	0.0719	L	0.32530	0.975	0.09310	N	0.999997	B;P	0.41848	0.255;0.763	B;B	0.39027	0.053;0.288	T	0.13388	-1.0511	10	0.11485	T	0.65	.	2.4075	0.04416	0.6059:0.1546:0.0895:0.15	.	1078;250	O75417;O75417-2	DPOLQ_HUMAN;.	S	701;1078;1214	ENSP00000264233:C1078S	ENSP00000264233:C1078S	C	-	1	0	POLQ	122691236	0.000000	0.05858	0.554000	0.28268	0.060000	0.15804	0.029000	0.13666	0.250000	0.21479	0.460000	0.39030	TGT		0.398	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1		NM_199420	
PRB3	5544	broad.mit.edu	37	12	11420500	11420500	+	Missense_Mutation	SNP	G	G	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr12:11420500G>T	ENST00000279573.7	-	3	818	c.683C>A	c.(682-684)cCa>cAa	p.P228Q	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000538488.1_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	228	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTGTGGGGGTGGTCCTTCTGG	0.627																																																	0																																										SO:0001583	missense	5544					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.683C>A	12.37:g.11420500G>T	ENSP00000279573:p.Pro228Gln		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37																																																																																					0.627	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5		NM_006249	
PRRC2C	23215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	171556219	171556219	+	Silent	SNP	T	T	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr1:171556219T>A	ENST00000338920.4	+	31	8058	c.7821T>A	c.(7819-7821)ccT>ccA	p.P2607P	PRRC2C_ENST00000392078.3_Silent_p.P2609P|PRRC2C_ENST00000426496.2_Silent_p.P2542P|PRRC2C_ENST00000367742.3_Silent_p.P2609P	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2607	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.P2609P(2)									TTGCTTTGCCTCAGACTCTTC	0.463																																																	2	Substitution - coding silent(2)	kidney(2)											94.0	80.0	85.0					1																	171556219		2203	4300	6503	SO:0001819	synonymous_variant	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.7821T>A	1.37:g.171556219T>A			Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	T	11.18	1.561425	0.27915	.	.	ENSG00000117523	ENST00000495585	.	.	.	5.04	-1.82	0.07857	.	.	.	.	.	T	0.21631	0.0521	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32508	-0.9904	4	.	.	.	.	0.657	0.00836	0.3274:0.1859:0.1112:0.3756	.	.	.	.	H	1090	.	.	L	+	2	0	PRRC2C	169822843	0.945000	0.32115	0.997000	0.53966	0.996000	0.88848	-0.099000	0.11007	-0.239000	0.09710	0.377000	0.23210	CTC		0.463	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4		NM_015172	
PSMC1	5700	broad.mit.edu;hgsc.bcm.edu	37	14	90730154	90730154	+	Missense_Mutation	SNP	T	T	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr14:90730154T>A	ENST00000261303.8	+	5	531	c.428T>A	c.(427-429)cTg>cAg	p.L143Q	PSMC1_ENST00000543772.2_Missense_Mutation_p.L70Q	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	143					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)	p.L143Q(1)		endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		GACAAGGATCTGCTGGAACCT	0.473																																																	1	Substitution - Missense(1)	kidney(1)											46.0	47.0	47.0					14																	90730154		2203	4299	6502	SO:0001583	missense	5700			L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.428T>A	14.37:g.90730154T>A	ENSP00000261303:p.Leu143Gln		B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Missense_Mutation	SNP	ENST00000261303.8	37	CCDS32139.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.959601	0.53400	.	.	ENSG00000100764	ENST00000261303;ENST00000543772	D;D	0.94376	-3.41;-3.39	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.86368	0.5916	N	0.12831	0.26	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.81747	-0.0791	10	0.23891	T	0.37	-6.5197	15.8844	0.79232	0.0:0.0:0.0:1.0	.	143	P62191	PRS4_HUMAN	Q	143;70	ENSP00000261303:L143Q;ENSP00000445147:L70Q	ENSP00000261303:L143Q	L	+	2	0	PSMC1	89799907	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.851000	0.86920	2.218000	0.71995	0.533000	0.62120	CTG		0.473	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411253.1		NM_002802	
RSC1A1	6248	hgsc.bcm.edu;ucsc.edu	37	1	15987206	15987206	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr1:15987206delT	ENST00000345034.1	+	1	843	c.843delT	c.(841-843)actfs	p.T281fs	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	281					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGATCTCACTTTAGATAATC	0.388																																																	0													76.0	74.0	75.0					1																	15987206		2203	4300	6503	SO:0001589	frameshift_variant	6248			BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.843delT	1.37:g.15987206delT	ENSP00000341963:p.Thr281fs		B2RBP5	Frame_Shift_Del	DEL	ENST00000345034.1	37	CCDS161.1																																																																																				0.388	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1		NM_006511	
SCAI	286205	broad.mit.edu;hgsc.bcm.edu	37	9	127789180	127789180	+	Silent	SNP	T	T	G	rs375130234		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr9:127789180T>G	ENST00000336505.6	-	6	481	c.423A>C	c.(421-423)acA>acC	p.T141T	SCAI_ENST00000373549.4_Silent_p.T164T	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	141	Necessary to inhibit MKL1-induced SRF transcriptional activity. {ECO:0000250}.|Required for interaction with MKL1. {ECO:0000250}.				negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.T164T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TGGTTTCCGATGTGCGTAAGC	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											93.0	86.0	88.0					9																	127789180		1825	4074	5899	SO:0001819	synonymous_variant	286205			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.423A>C	9.37:g.127789180T>G			Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Silent	SNP	ENST00000336505.6	37	CCDS48017.1																																																																																				0.358	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3		NM_173690	
SERINC5	256987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	79473191	79473191	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr5:79473191C>G	ENST00000507668.2	-	4	553	c.403G>C	c.(403-405)Ggg>Cgg	p.G135R	SERINC5_ENST00000512972.2_Missense_Mutation_p.G135R|SERINC5_ENST00000513907.1_5'UTR|SERINC5_ENST00000512721.1_Missense_Mutation_p.G135R|SERINC5_ENST00000509193.1_Missense_Mutation_p.G135R	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	135					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)	p.G134R(1)|p.G135R(1)		endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		CACATGGCCCCCAACAGCAGA	0.403																																																	2	Substitution - Missense(2)	kidney(2)											101.0	92.0	95.0					5																	79473191		1839	4093	5932	SO:0001583	missense	256987			AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.403G>C	5.37:g.79473191C>G	ENSP00000426237:p.Gly135Arg		B4DMH7|Q495A4|Q495A6	Missense_Mutation	SNP	ENST00000507668.2	37	CCDS54873.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068345	0.76301	.	.	ENSG00000164300	ENST00000507668;ENST00000329637;ENST00000509193;ENST00000512972;ENST00000512721	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	5.36	5.36	0.76844	.	0.455087	0.25555	N	0.029868	T	0.20740	0.0499	L	0.50333	1.59	0.40486	D	0.980493	P;P;P;D	0.55800	0.952;0.594;0.942;0.973	P;B;P;P	0.49887	0.625;0.308;0.619;0.625	T	0.00361	-1.1789	10	0.62326	D	0.03	.	12.7758	0.57445	0.0:0.9248:0.0:0.0752	.	135;135;135;135	B4DMH7;Q86VE9-2;D6RHG7;Q86VE9	.;.;.;SERC5_HUMAN	R	135;134;135;135;135	ENSP00000426237:G135R;ENSP00000426134:G135R;ENSP00000421665:G135R;ENSP00000420863:G135R	ENSP00000327542:G134R	G	-	1	0	SERINC5	79508947	0.982000	0.34865	1.000000	0.80357	0.986000	0.74619	2.110000	0.41873	2.671000	0.90904	0.655000	0.94253	GGG		0.403	SERINC5-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_178276	
SF3A1	10291	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30740940	30740940	+	Silent	SNP	T	T	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr22:30740940T>A	ENST00000215793.8	-	4	787	c.633A>T	c.(631-633)ctA>ctT	p.L211L	SF3A1_ENST00000439242.1_Silent_p.L146L	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	211					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L211L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						ACTGTTCCACTAGCTTCGTGA	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											142.0	136.0	138.0					22																	30740940		2203	4300	6503	SO:0001819	synonymous_variant	10291			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.633A>T	22.37:g.30740940T>A			E9PAW1	Silent	SNP	ENST00000215793.8	37	CCDS13875.1																																																																																				0.552	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2		NM_005877	
SIN3A	25942	broad.mit.edu	37	15	75705213	75705213	+	Missense_Mutation	SNP	A	A	G	rs199949593		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr15:75705213A>G	ENST00000394947.3	-	5	961	c.647T>C	c.(646-648)aTc>aCc	p.I216T	SIN3A_ENST00000360439.4_Missense_Mutation_p.I216T|SIN3A_ENST00000394949.4_Missense_Mutation_p.I216T	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.I216T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ctgtggctggATGCCATGGGT	0.577																																																	1	Substitution - Missense(1)	kidney(1)											158.0	126.0	137.0					15																	75705213		2197	4294	6491	SO:0001583	missense	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.647T>C	15.37:g.75705213A>G	ENSP00000378402:p.Ile216Thr			Missense_Mutation	SNP	ENST00000394947.3	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.742275	0.30865	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.45276	0.9;0.9;0.9	6.04	6.04	0.98038	.	0.163485	0.56097	D	0.000040	T	0.39572	0.1083	L	0.56769	1.78	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.29119	-1.0022	10	0.11485	T	0.65	-12.8568	15.7575	0.78046	1.0:0.0:0.0:0.0	.	216	Q96ST3	SIN3A_HUMAN	T	216	ENSP00000378402:I216T;ENSP00000378403:I216T;ENSP00000353622:I216T	ENSP00000353622:I216T	I	-	2	0	SIN3A	73492266	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.960000	0.93117	2.317000	0.78254	0.459000	0.35465	ATC		0.577	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1		NM_015477	
SLC36A1	206358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150856274	150856274	+	Missense_Mutation	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr5:150856274G>A	ENST00000243389.3	+	9	1169	c.946G>A	c.(946-948)Gct>Act	p.A316T	SLC36A1_ENST00000521925.1_Missense_Mutation_p.A316T|RNA5SP197_ENST00000363357.1_RNA|SLC36A1_ENST00000520701.1_Missense_Mutation_p.A316T	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	316					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)	p.A316T(1)		endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	GCAATTTGGAGCTAATATCCA	0.512																																					Melanoma(151;1534 1860 12947 32979 37872)												1	Substitution - Missense(1)	kidney(1)											144.0	115.0	125.0					5																	150856274		2203	4300	6503	SO:0001583	missense	206358			AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.946G>A	5.37:g.150856274G>A	ENSP00000243389:p.Ala316Thr		C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425014	0.43020	.	.	ENSG00000123643	ENST00000520701;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517628	T;T;T;T	0.02236	4.38;4.38;4.38;4.38	5.76	4.89	0.63831	.	0.265474	0.37437	N	0.002087	T	0.03011	0.0089	L	0.51914	1.62	0.33680	D	0.612004	B;B	0.17038	0.01;0.02	B;B	0.18871	0.023;0.023	T	0.13469	-1.0508	10	0.36615	T	0.2	.	9.0411	0.36319	0.0679:0.0:0.67:0.262	.	316;316	E7EW39;Q7Z2H8	.;S36A1_HUMAN	T	316;316;316;316;75	ENSP00000428140:A316T;ENSP00000243389:A316T;ENSP00000430305:A316T;ENSP00000428738:A75T	ENSP00000243389:A316T	A	+	1	0	SLC36A1	150836467	0.984000	0.35163	0.982000	0.44146	0.818000	0.46254	1.519000	0.35888	1.420000	0.47138	-0.169000	0.13324	GCT		0.512	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1		NM_078483	
TEC	7006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	48170607	48170607	+	Missense_Mutation	SNP	T	T	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr4:48170607T>G	ENST00000381501.3	-	6	648	c.491A>C	c.(490-492)aAg>aCg	p.K164T		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	164					B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.K164T(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ACCTACCTTCTTTGTTTCTGG	0.323																																																	1	Substitution - Missense(1)	kidney(1)											115.0	104.0	108.0					4																	48170607		2203	4300	6503	SO:0001583	missense	100124696			D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.491A>C	4.37:g.48170607T>G	ENSP00000370912:p.Lys164Thr		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	T	9.500	1.103058	0.20632	.	.	ENSG00000135605	ENST00000381501	T	0.16196	2.36	5.14	3.87	0.44632	Src homology-3 domain (1);	0.740503	0.12303	N	0.480934	T	0.07143	0.0181	N	0.08118	0	0.27018	N	0.964538	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	10	0.18276	T	0.48	.	3.613	0.08067	0.3282:0.0968:0.0:0.575	.	164	P42680	TEC_HUMAN	T	164	ENSP00000370912:K164T	ENSP00000370912:K164T	K	-	2	0	TEC	47865364	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	0.944000	0.29043	2.062000	0.61559	0.383000	0.25322	AAG		0.323	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			
SPINK2	6691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	57677912	57677912	+	Missense_Mutation	SNP	G	G	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr4:57677912G>C	ENST00000248701.4	-	3	227	c.148C>G	c.(148-150)Cct>Gct	p.P50A	SPINK2_ENST00000504762.1_Missense_Mutation_p.P85A|SPINK2_ENST00000506738.1_Missense_Mutation_p.P100A	NM_021114.2	NP_066937.1	P20155	ISK2_HUMAN	serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)	50	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P50A(1)		kidney(1)|large_intestine(1)|lung(2)	4	Glioma(25;0.08)|all_neural(26;0.181)					CCACACACAGGGTTAAAGTGT	0.403																																																	1	Substitution - Missense(1)	kidney(1)											147.0	144.0	145.0					4																	57677912		2203	4300	6503	SO:0001583	missense	6691			BC022514	CCDS3508.1, CCDS63971.1, CCDS63972.1, CCDS75128.1	4q12	2011-08-31	2005-08-17		ENSG00000128040	ENSG00000128040		"""Serine peptidase inhibitors, Kazal type"""	11245	protein-coding gene	gene with protein product		605753	"""serine protease inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)"""			8428671	Standard	NM_001271718		Approved	HUSI-II	uc031sep.1	P20155	OTTHUMG00000128769	ENST00000248701.4:c.148C>G	4.37:g.57677912G>C	ENSP00000248701:p.Pro50Ala		Q6FGH2	Missense_Mutation	SNP	ENST00000248701.4	37	CCDS3508.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768812	0.49680	.	.	ENSG00000128040	ENST00000248701;ENST00000506738;ENST00000504762	D;D;D	0.85171	-1.95;-1.95;-1.95	5.26	5.26	0.73747	Proteinase inhibitor I1, Kazal (3);	0.000000	0.85682	D	0.000000	D	0.91801	0.7406	.	.	.	0.46298	D	0.998975	D	0.89917	1.0	D	0.91635	0.999	D	0.91930	0.5554	9	0.59425	D	0.04	-26.9115	14.2953	0.66308	0.0:0.0:1.0:0.0	.	50	P20155	ISK2_HUMAN	A	50;100;85	ENSP00000248701:P50A;ENSP00000425961:P100A;ENSP00000423858:P85A	ENSP00000248701:P50A	P	-	1	0	SPINK2	57372669	1.000000	0.71417	0.907000	0.35723	0.165000	0.22458	3.273000	0.51623	2.749000	0.94314	0.644000	0.83932	CCT		0.403	SPINK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250690.2		NM_021114	
TOP3A	7156	broad.mit.edu	37	17	18196163	18196163	+	Silent	SNP	G	G	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr17:18196163G>A	ENST00000321105.5	-	11	1291	c.1077C>T	c.(1075-1077)taC>taT	p.Y359Y	TOP3A_ENST00000540524.1_Intron|TOP3A_ENST00000542570.1_Silent_p.Y264Y	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	359					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)	p.Y359Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GATAGCTGATGTACCTAAAAC	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											89.0	84.0	86.0					17																	18196163		2203	4300	6503	SO:0001819	synonymous_variant	7156			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1077C>T	17.37:g.18196163G>A			A8KA61|B4DK80|D3DXC7|Q13473	Silent	SNP	ENST00000321105.5	37	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	G	7.388	0.630198	0.14257	.	.	ENSG00000177302	ENST00000412083	.	.	.	5.42	1.75	0.24633	.	.	.	.	.	T	0.59729	0.2215	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55848	-0.8076	4	.	.	.	-21.4864	11.0381	0.47814	0.3491:0.0:0.6509:0.0	.	.	.	.	Y	339	.	.	H	-	1	0	TOP3A	18136888	0.995000	0.38212	1.000000	0.80357	0.979000	0.70002	0.256000	0.18351	0.612000	0.30071	0.563000	0.77884	CAT		0.458	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179422748	179422748	+	Missense_Mutation	SNP	G	G	C			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr2:179422748G>C	ENST00000591111.1	-	278	82634	c.82410C>G	c.(82408-82410)gaC>gaG	p.D27470E	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D20046E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D20238E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D26543E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D29111E|TTN_ENST00000359218.5_Missense_Mutation_p.D20171E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27470					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D20171E(1)|p.D20171D(1)|p.D20238D(1)|p.D20238E(1)|p.D26541E(1)|p.D26541D(1)|p.D26543E(1)|p.D26543D(1)|p.D20046E(1)|p.D20046D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTCCCAGCGTCAGCTGTAA	0.458																																																	10	Substitution - Missense(5)|Substitution - coding silent(5)	breast(5)|kidney(5)											130.0	128.0	129.0					2																	179422748		1908	4129	6037	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.82410C>G	2.37:g.179422748G>C	ENSP00000465570:p.Asp27470Glu		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		.	.	.	.	.	.	.	.	.	.	G	14.61	2.587390	0.46110	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.63	2.02	0.26589	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87838	0.6278	M	0.80508	2.5	0.46096	D	0.998868	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.86527	0.1819	9	0.87932	D	0	.	8.7533	0.34631	0.7794:0.0:0.2206:0.0	.	20046;20171;20238;27470	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	26543;20046;20238;20171;20043	ENSP00000343764:D26543E;ENSP00000434586:D20046E;ENSP00000340554:D20238E;ENSP00000352154:D20171E	ENSP00000340554:D20238E	D	-	3	2	TTN	179130994	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.004000	0.49513	0.519000	0.28406	-0.339000	0.08088	GAC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TTN	7273	broad.mit.edu;ucsc.edu	37	2	179439235	179439235	+	Missense_Mutation	SNP	G	G	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr2:179439235G>T	ENST00000591111.1	-	276	66925	c.66701C>A	c.(66700-66702)aCt>aAt	p.T22234N	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T14810N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15002N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T21307N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T23875N|TTN_ENST00000359218.5_Missense_Mutation_p.T14935N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22234	Fibronectin type-III 61. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T21305N(1)|p.T21307N(1)|p.T14810N(1)|p.T15002N(1)|p.T14935N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCTCACAGTCTGCCAGAG	0.423																																																	5	Substitution - Missense(5)	kidney(5)											201.0	199.0	200.0					2																	179439235		1910	4116	6026	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66701C>A	2.37:g.179439235G>T	ENSP00000465570:p.Thr22234Asn		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		.	.	.	.	.	.	.	.	.	.	G	8.980	0.975067	0.18736	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.7	3.89	0.44902	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37758	0.1015	N	0.20357	0.565	0.32565	N	0.53057	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.12156	0.007;0.007;0.007;0.007	T	0.44097	-0.9350	9	0.87932	D	0	.	9.8501	0.41051	0.066:0.0:0.6855:0.2485	.	14810;14935;15002;22234	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	21307;14810;15002;14935;14808	ENSP00000343764:T21307N;ENSP00000434586:T14810N;ENSP00000340554:T15002N;ENSP00000352154:T14935N	ENSP00000340554:T15002N	T	-	2	0	TTN	179147481	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.553000	0.53713	0.748000	0.32831	0.650000	0.86243	ACT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TUBA1A	7846	broad.mit.edu	37	12	49579013	49579013	+	Missense_Mutation	SNP	C	C	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr12:49579013C>T	ENST00000295766.5	-	4	1615	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	TUBA1A_ENST00000301071.7_Missense_Mutation_p.S379N|TUBA1A_ENST00000550767.1_Missense_Mutation_p.S344N	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	379					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S379N(1)		stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	TGTGGTGTTGCTCAGCATGCA	0.582																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)												1	Substitution - Missense(1)	kidney(1)											69.0	58.0	62.0					12																	49579013		2203	4296	6499	SO:0001583	missense	7846			AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.1136G>A	12.37:g.49579013C>T	ENSP00000439020:p.Ser379Asn		A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	37	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095811	0.36952	.	.	ENSG00000167552	ENST00000301071;ENST00000552597;ENST00000548405;ENST00000295766;ENST00000550767	D;D;D	0.82803	-1.65;-1.65;-1.65	5.47	5.47	0.80525	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90397	0.6994	H	0.96269	3.795	0.80722	D	1	B	0.12630	0.006	B	0.31016	0.123	D	0.89441	0.3723	10	0.87932	D	0	.	18.1914	0.89808	0.0:1.0:0.0:0.0	.	379	Q71U36	TBA1A_HUMAN	N	379;110;226;379;344	ENSP00000301071:S379N;ENSP00000439020:S379N;ENSP00000446637:S344N	ENSP00000439020:S379N	S	-	2	0	TUBA1A	47865280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.577000	0.86979	0.650000	0.86243	AGC		0.582	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2		NM_006009	
UBE2D1	7321	broad.mit.edu;hgsc.bcm.edu	37	10	60124536	60124536	+	Silent	SNP	T	T	A			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr10:60124536T>A	ENST00000373910.4	+	5	431	c.204T>A	c.(202-204)gcT>gcA	p.A68A		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	68					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.A68A(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						TTTAGATTGCTTTCACAACAA	0.323																																																	1	Substitution - coding silent(1)	kidney(1)											99.0	93.0	95.0					10																	60124536		2203	4300	6503	SO:0001819	synonymous_variant	7321			BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401		"""Ubiquitin-conjugating enzymes E2"""	12474	protein-coding gene	gene with protein product		602961	"""stimulator of Fe transport"", ""ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)"""	SFT		10072594, 8530467	Standard	NM_003338		Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.204T>A	10.37:g.60124536T>A			A6NLF6|A8K786	Silent	SNP	ENST00000373910.4	37	CCDS7252.1																																																																																				0.323	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048143.2		NM_003338	
UBQLN1	29979	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	86279973	86279973	+	Missense_Mutation	SNP	C	C	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr9:86279973C>T	ENST00000376395.4	-	9	1943	c.1420G>A	c.(1420-1422)Gca>Aca	p.A474T	UBQLN1_ENST00000257468.7_Missense_Mutation_p.A446T	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	474					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)	p.A474T(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GCTTCCGTTGCTAATGTCTGT	0.423																																					Melanoma(186;1284 2073 12755 14558 18426)												1	Substitution - Missense(1)	kidney(1)											105.0	94.0	98.0					9																	86279973		2203	4300	6503	SO:0001583	missense	29979			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.1420G>A	9.37:g.86279973C>T	ENSP00000365576:p.Ala474Thr		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903461	0.52333	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	T;T	0.54675	1.06;0.56	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.75347	0.3837	M	0.85041	2.73	0.46298	D	0.998979	P;D	0.71674	0.876;0.998	P;D	0.81914	0.596;0.995	T	0.70669	-0.4808	10	0.19147	T	0.46	.	20.0919	0.97823	0.0:1.0:0.0:0.0	.	446;474	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	T	474;446	ENSP00000365576:A474T;ENSP00000257468:A446T	ENSP00000257468:A446T	A	-	1	0	UBQLN1	85469793	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	5.812000	0.69194	2.810000	0.96702	0.650000	0.86243	GCA		0.423	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1		NM_013438	
VHL	7428	hgsc.bcm.edu	37	3	10191572	10191572	+	Missense_Mutation	SNP	G	G	C	rs121913345		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr3:10191572G>C	ENST00000256474.2	+	3	1405	c.565G>C	c.(565-567)Gaa>Caa	p.E189Q	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.E148Q	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	189					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E189K(3)|p.E189*(2)|p.E189fs*12(1)|p.E189fs*13(1)|p.E189fs*25(1)|p.Y185fs*11(1)|p.L188>?(1)|p.D187_N193del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGAAGATCTGGAAGACCACCC	0.502		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	11	Deletion - Frameshift(4)|Substitution - Missense(3)|Substitution - Nonsense(2)|Complex(1)|Deletion - In frame(1)	kidney(11)	GRCh37	CD983007	VHL	D							77.0	70.0	72.0					3																	10191572		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.565G>C	3.37:g.10191572G>C	ENSP00000256474:p.Glu189Gln		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806021	0.90623	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99824	-6.96;-6.96	4.97	4.97	0.65823	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.057481	0.64402	D	0.000002	D	0.99658	0.9873	L	0.51422	1.61	0.43637	D	0.996037	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.97385	0.9985	10	0.46703	T	0.11	-3.955	16.1249	0.81386	0.0:0.0:1.0:0.0	.	148;189	P40337-2;P40337	.;VHL_HUMAN	Q	189;148;107	ENSP00000256474:E189Q;ENSP00000344757:E148Q	ENSP00000256474:E189Q	E	+	1	0	VHL	10166572	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.062000	0.76706	2.735000	0.93741	0.655000	0.94253	GAA		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
USP4	7375	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49337921	49337921	+	Silent	SNP	G	G	A	rs142071789		TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr3:49337921G>A	ENST00000265560.4	-	11	1537	c.1491C>T	c.(1489-1491)gaC>gaT	p.D497D	USP4_ENST00000488520.1_5'Flank|USP4_ENST00000351842.4_Silent_p.D450D	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	497	USP.|Ubiquitin-like 2.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D497D(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TGCAGTGAGGGTCAGCAGGAA	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											127.0	124.0	125.0					3																	49337921		2203	4300	6503	SO:0001819	synonymous_variant	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1491C>T	3.37:g.49337921G>A			A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Silent	SNP	ENST00000265560.4	37	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	G	8.761	0.923631	0.18056	.	.	ENSG00000114316	ENST00000431357	.	.	.	5.93	2.63	0.31362	.	.	.	.	.	T	0.58921	0.2156	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54050	-0.8351	4	.	.	.	-30.2844	9.5645	0.39389	0.317:0.0:0.683:0.0	.	.	.	.	S	236	.	.	P	-	1	0	USP4	49312925	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.269000	0.33074	0.758000	0.33059	-0.367000	0.07326	CCC		0.522	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1		NM_199443	
WISP1	8840	hgsc.bcm.edu;ucsc.edu	37	8	134233012	134233013	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr8:134233012_134233013delTG	ENST00000250160.6	+	3	644_645	c.538_539delTG	c.(538-540)tgtfs	p.C180fs	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	180	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGGCCACTGCTGTGAGCAGTGG	0.703																																																	0																																										SO:0001589	frameshift_variant	8840			AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.538_539delTG	8.37:g.134233014_134233015delTG	ENSP00000250160:p.Cys180fs		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Frame_Shift_Del	DEL	ENST00000250160.6	37	CCDS6371.1																																																																																				0.703	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2		NM_003882	
ZEB2	9839	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	145157472	145157472	+	Missense_Mutation	SNP	C	C	G			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr2:145157472C>G	ENST00000558170.2	-	8	2466	c.1282G>C	c.(1282-1284)Gtt>Ctt	p.V428L	ZEB2_ENST00000409487.3_Missense_Mutation_p.V428L|ZEB2_ENST00000539609.3_Missense_Mutation_p.V404L|ZEB2_ENST00000303660.4_Missense_Mutation_p.V428L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	428					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.V428L(1)|p.V428I(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GATGGATGAACTCCTAAAGGG	0.458																																					Melanoma(33;1235 1264 5755 16332)												2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											64.0	69.0	67.0					2																	145157472		2203	4300	6503	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1282G>C	2.37:g.145157472C>G	ENSP00000454157:p.Val428Leu		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307316	0.23821	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.13089	2.64;2.62;2.62;2.79;2.79	5.53	5.53	0.82687	.	0.113341	0.64402	D	0.000008	T	0.10852	0.0265	N	0.19112	0.55	0.46725	D	0.999177	B;B;B;B	0.20052	0.041;0.014;0.014;0.002	B;B;B;B	0.25291	0.059;0.021;0.008;0.015	T	0.10268	-1.0637	10	0.48119	T	0.1	-7.6837	12.7659	0.57391	0.0:0.925:0.0:0.075	.	404;293;427;428	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	L	404;428;428;428;428	ENSP00000443792:V404L;ENSP00000302501:V428L;ENSP00000386854:V428L;ENSP00000395496:V428L;ENSP00000376601:V428L	ENSP00000302501:V428L	V	-	1	0	ZEB2	144873942	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.644000	0.46613	2.587000	0.87381	0.655000	0.94253	GTT		0.458	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5		NM_014795	
ZFYVE1	53349	broad.mit.edu	37	14	73465019	73465019	+	Missense_Mutation	SNP	G	G	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr14:73465019G>T	ENST00000556143.1	-	3	1208	c.488C>A	c.(487-489)aCa>aAa	p.T163K	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.T163K|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.T163K	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	163					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)	p.T163K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TTCTTCATTTGTTACCTGCAA	0.353																																																	1	Substitution - Missense(1)	kidney(1)											25.0	25.0	25.0					14																	73465019		2148	4171	6319	SO:0001583	missense	53349			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.488C>A	14.37:g.73465019G>T	ENSP00000450742:p.Thr163Lys		J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	1.558	-0.537361	0.04082	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.61274	0.12;0.12;0.12	5.42	3.31	0.37934	.	0.223482	0.45606	D	0.000354	T	0.13628	0.0330	N	0.00246	-1.78	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46331	-0.9199	10	0.02654	T	1	-6.3589	2.617	0.04907	0.095:0.1517:0.3898:0.3636	.	163;163	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	K	163	ENSP00000452442:T163K;ENSP00000326921:T163K;ENSP00000450742:T163K	ENSP00000326921:T163K	T	-	2	0	ZFYVE1	72534772	0.951000	0.32395	0.993000	0.49108	0.907000	0.53573	1.675000	0.37555	2.545000	0.85829	0.591000	0.81541	ACA		0.353	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1		NM_021260	
ZGLP1	100125288	broad.mit.edu	37	19	10419249	10419249	+	Missense_Mutation	SNP	C	C	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr19:10419249C>T	ENST00000403903.3	-	1	1307	c.109G>A	c.(109-111)Gac>Aac	p.D37N	FDX1L_ENST00000492239.1_5'Flank|FDX1L_ENST00000541276.1_Intron|CTD-2369P2.10_ENST00000452032.2_Intron|ZGLP1_ENST00000403352.1_Intron	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	37					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D37N(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GCAGTGGGGTCACGTTTTCTT	0.622																																																	2	Substitution - Missense(2)	kidney(2)											42.0	49.0	47.0					19																	10419249		1988	4148	6136	SO:0001583	missense	100125288			AK096830	CCDS45959.1	19p13.2	2013-01-25			ENSG00000220201	ENSG00000220201		"""GATA zinc finger domain containing"""	37245	protein-coding gene	gene with protein product	"""GATA like protein 1"", ""GATA zinc finger domain containing 3"""	611639				16982049	Standard	NM_001103167		Approved	GLP1, GLP-1, GATAD3	uc002mnw.4	P0C6A0	OTTHUMG00000152114	ENST00000403903.3:c.109G>A	19.37:g.10419249C>T	ENSP00000384434:p.Asp37Asn			Missense_Mutation	SNP	ENST00000403903.3	37	CCDS45959.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315893	0.40996	.	.	ENSG00000220201	ENST00000403903	D	0.97976	-4.64	3.55	1.39	0.22231	.	.	.	.	.	D	0.91670	0.7367	N	0.14661	0.345	0.09310	N	1	B	0.21821	0.061	B	0.15484	0.013	D	0.84430	0.0576	9	0.22706	T	0.39	1.3362	5.2278	0.15404	0.0:0.7292:0.0:0.2708	.	37	P0C6A0	ZGLP1_HUMAN	N	37	ENSP00000384434:D37N	ENSP00000384434:D37N	D	-	1	0	ZGLP1	10280249	0.305000	0.24481	0.064000	0.19789	0.854000	0.48673	0.042000	0.13949	0.816000	0.34421	0.462000	0.41574	GAC		0.622	ZGLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325278.1		NM_001103167	
ZNF808	388558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53057358	53057358	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EU-5906-01A-11D-1669-08	TCGA-EU-5906-10A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	050dc3b7-e560-44f4-a05c-8c792d8467a8	e096d1a2-684d-43cc-b84c-b302aaf33c3f	g.chr19:53057358A>T	ENST00000359798.4	+	5	1369	c.1189A>T	c.(1189-1191)Aaa>Taa	p.K397*		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K397*(1)		endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TAGTGGAGAGAAAACATACAA	0.373																																																	1	Substitution - Nonsense(1)	kidney(1)											94.0	101.0	98.0					19																	53057358		2197	4293	6490	SO:0001587	stop_gained	388558			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1189A>T	19.37:g.53057358A>T	ENSP00000352846:p.Lys397*		Q68CN7	Nonsense_Mutation	SNP	ENST00000359798.4	37	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	25.1	4.607890	0.87258	.	.	ENSG00000198482	ENST00000359798	.	.	.	1.5	1.5	0.22942	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.836	0.29369	1.0:0.0:0.0:0.0	.	.	.	.	X	397	.	ENSP00000352846:K397X	K	+	1	0	ZNF808	57749170	0.445000	0.25657	0.023000	0.16930	0.014000	0.08584	3.395000	0.52558	0.666000	0.31087	0.164000	0.16699	AAA		0.373	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3		NM_001039886	
