#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_AAChange	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_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TranscriptID	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_dbSNPPopFreq	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
AANAT	15	broad.mit.edu;bcgsc.ca	37	17	74465897	74465897	+	Missense_Mutation	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr17:74465897G>A	ENST00000392492.3	+	4	703	c.469G>A	c.(469-471)Gcg>Acg	p.A157T	AANAT_ENST00000250615.3_Missense_Mutation_p.A202T	NM_001088.2	NP_001079.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	157	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|N-terminal protein amino acid acetylation (GO:0006474)|response to calcium ion (GO:0051592)|response to copper ion (GO:0046688)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to insulin (GO:0032868)|response to light stimulus (GO:0009416)|response to prostaglandin E (GO:0034695)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	aralkylamine N-acetyltransferase activity (GO:0004059)|arylamine N-acetyltransferase activity (GO:0004060)			lung(1)	1						GCGCCGGGCCGCGCTCATGTG	0.711																																					p.A202T		.											.	AANAT	90	0			c.G604A						.						15.0	14.0	14.0					17																	74465897		2196	4291	6487	SO:0001583	missense	15	exon7			CGGGCCGCGCTCA	U40347	CCDS11745.1, CCDS54169.1	17q25.1	2013-10-15	2010-05-07		ENSG00000129673	ENSG00000129673	2.3.1.87		19	protein-coding gene	gene with protein product	"""serotonin N-acetyltransferase"""	600950	"""arylalkylamine N-acetyltransferase"""			8661026	Standard	NM_001088		Approved	SNAT	uc002jro.3	Q16613	OTTHUMG00000180179	ENST00000392492.3:c.469G>A	17.37:g.74465897G>A	ENSP00000376282:p.Ala157Thr	65.0	0.0		91.0	7.0	NM_001166579	A0AVF2|J3KMZ5|Q562F4	Missense_Mutation	SNP	ENST00000392492.3	37	CCDS11745.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252358	0.22880	.	.	ENSG00000129673	ENST00000250615;ENST00000392492	T;T	0.23950	1.88;1.88	5.12	3.01	0.34805	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.530369	0.20571	N	0.089721	T	0.12902	0.0313	N	0.12663	0.25	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.17471	-1.0368	10	0.35671	T	0.21	-18.8444	7.4452	0.27207	0.1501:0.2464:0.6035:0.0	.	157	Q16613	SNAT_HUMAN	T	202;157	ENSP00000250615:A202T;ENSP00000376282:A157T	ENSP00000250615:A202T	A	+	1	0	AANAT	71977492	0.714000	0.27936	0.272000	0.24630	0.098000	0.18820	1.081000	0.30791	1.153000	0.42468	0.455000	0.32223	GCG	.		0.711	AANAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450130.1	NM_001088	
ABCB10	23456	hgsc.bcm.edu;bcgsc.ca	37	1	229666086	229666086	+	Missense_Mutation	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:229666086G>A	ENST00000344517.4	-	8	1547	c.1505C>T	c.(1504-1506)cCa>cTa	p.P502L		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	502	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TGGGCGAGCTGGATAGGCAAA	0.448																																					p.P502L		.											.	ABCB10	153	0			c.C1505T						.						134.0	134.0	134.0					1																	229666086		2203	4300	6503	SO:0001583	missense	23456	exon8			CGAGCTGGATAGG	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1505C>T	1.37:g.229666086G>A	ENSP00000355637:p.Pro502Leu	119.0	0.0		90.0	5.0	NM_012089	Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	37	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761626	0.89932	.	.	ENSG00000135776	ENST00000344517	D	0.91124	-2.79	5.83	5.83	0.93111	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.94918	0.8357	M	0.62209	1.925	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94792	0.7963	10	0.87932	D	0	-27.3017	20.1082	0.97900	0.0:0.0:1.0:0.0	.	502	Q9NRK6	ABCBA_HUMAN	L	502	ENSP00000355637:P502L	ENSP00000355637:P502L	P	-	2	0	ABCB10	227732709	1.000000	0.71417	0.437000	0.26809	0.788000	0.44548	8.643000	0.91040	2.745000	0.94114	0.563000	0.77884	CCA	.		0.448	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089	
ABCC4	10257	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	95887013	95887013	+	Missense_Mutation	SNP	A	A	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr13:95887013A>C	ENST00000376887.4	-	4	496	c.382T>G	c.(382-384)Tct>Gct	p.S128A	ABCC4_ENST00000431522.1_Missense_Mutation_p.S128A|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.S128A|ABCC4_ENST00000536256.1_Intron	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	128	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	AAAGCCACAGAATCCATGGGA	0.368																																					p.S128A		.											.	ABCC4	515	0			c.T382G						.						58.0	53.0	55.0					13																	95887013		2203	4300	6503	SO:0001583	missense	10257	exon4			CCACAGAATCCAT	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.382T>G	13.37:g.95887013A>C	ENSP00000366084:p.Ser128Ala	118.0	0.0		105.0	26.0	NM_005845	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	A	4.480	0.088894	0.08583	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000431522	T;T;T	0.37752	1.18;1.18;1.18	5.21	-4.27	0.03744	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.182340	0.05868	N	0.624216	T	0.26268	0.0641	L	0.41415	1.275	0.09310	N	1	B;B;B;B	0.26547	0.152;0.004;0.152;0.066	B;B;B;B	0.36766	0.232;0.012;0.232;0.102	T	0.40098	-0.9581	10	0.27082	T	0.32	.	0.3115	0.00288	0.3462:0.1317:0.2242:0.2979	.	128;128;128;128	A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	A	128	ENSP00000388657:S128A;ENSP00000366084:S128A;ENSP00000398562:S128A	ENSP00000366084:S128A	S	-	1	0	ABCC4	94685014	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.277000	0.08502	-0.248000	0.09583	-1.140000	0.01884	TCT	.		0.368	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845	
ACE	1636	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	61556398	61556398	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr17:61556398A>G	ENST00000290866.4	+	3	472	c.448A>G	c.(448-450)Atc>Gtc	p.I150V	ACE_ENST00000428043.1_Missense_Mutation_p.I150V|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.I150V	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	150	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CATGAGCAGGATCTACTCCAC	0.637											OREG0024639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I150V		.											.	ACE	94	0			c.A448G						.						124.0	79.0	94.0					17																	61556398		2203	4300	6503	SO:0001583	missense	1636	exon3			AGCAGGATCTACT	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.448A>G	17.37:g.61556398A>G	ENSP00000290866:p.Ile150Val	98.0	0.0	1054	91.0	44.0	NM_000789	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	A	9.080	0.999162	0.19121	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.35421	1.31;1.31;1.31	4.64	3.56	0.40772	.	0.103999	0.64402	N	0.000007	T	0.42359	0.1199	M	0.78223	2.4	0.80722	D	1	B;B	0.23591	0.033;0.088	B;B	0.34418	0.025;0.182	T	0.26608	-1.0098	10	0.34782	T	0.22	-18.3126	10.1463	0.42767	0.92:0.0:0.08:0.0	.	150;150	F5H1K1;P12821	.;ACE_HUMAN	V	150	ENSP00000439591:I150V;ENSP00000290866:I150V;ENSP00000397593:I150V	ENSP00000290866:I150V	I	+	1	0	ACE	58910130	1.000000	0.71417	0.932000	0.37286	0.807000	0.45602	7.091000	0.76923	0.744000	0.32741	0.459000	0.35465	ATC	.		0.637	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2		
ADAMTS19	171019	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	129070694	129070694	+	Missense_Mutation	SNP	C	C	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr5:129070694C>A	ENST00000274487.4	+	22	3509	c.3364C>A	c.(3364-3366)Cat>Aat	p.H1122N	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1122	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CACAGGAAGACATGGAAATGA	0.403																																					p.H1122N		.											.	ADAMTS19	295	0			c.C3364A						.						117.0	116.0	116.0					5																	129070694		2203	4300	6503	SO:0001583	missense	171019	exon22			GGAAGACATGGAA	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3364C>A	5.37:g.129070694C>A	ENSP00000274487:p.His1122Asn	425.0	2.0		496.0	228.0	NM_133638		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263759	0.80358	.	.	ENSG00000145808	ENST00000274487	T	0.59772	0.24	4.26	4.26	0.50523	.	0.000000	0.64402	D	0.000005	T	0.63686	0.2532	N	0.21583	0.68	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	T	0.61826	-0.6983	9	.	.	.	.	17.9861	0.89156	0.0:1.0:0.0:0.0	.	1122	Q8TE59	ATS19_HUMAN	N	1122	ENSP00000274487:H1122N	.	H	+	1	0	ADAMTS19	129098593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.079000	0.76829	2.661000	0.90470	0.585000	0.79938	CAT	.		0.403	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
ADORA3	140	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	112042758	112042758	+	Silent	SNP	A	A	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:112042758A>T	ENST00000241356.4	-	2	1176	c.771T>A	c.(769-771)ggT>ggA	p.G257G	ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	257					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	GTGGTACCTCACCATTAAAGT	0.443																																					p.G257G		.											.	ADORA3	156	0			c.T771A						.						100.0	95.0	97.0					1																	112042758		2203	4300	6503	SO:0001819	synonymous_variant	140	exon2			TACCTCACCATTA	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.771T>A	1.37:g.112042758A>T		202.0	1.0		341.0	20.0	NM_000677	A2A3P4|Q6UWU0|Q9BYZ1	Silent	SNP	ENST00000241356.4	37	CCDS839.1																																																																																			.		0.443	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683	
AFF1	4299	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	4	88035706	88035706	+	Missense_Mutation	SNP	C	C	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr4:88035706C>A	ENST00000307808.6	+	11	2120	c.1700C>A	c.(1699-1701)tCc>tAc	p.S567Y	AFF1_ENST00000544085.1_Missense_Mutation_p.S205Y|AFF1_ENST00000395146.4_Missense_Mutation_p.S574Y	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	567					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCTAAAAGCTCCAGCAAAGCC	0.632																																					p.S574Y		.											.	AFF1	289	0			c.C1721A						.						9.0	13.0	12.0					4																	88035706		2182	4278	6460	SO:0001583	missense	4299	exon12			AAAGCTCCAGCAA	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1700C>A	4.37:g.88035706C>A	ENSP00000305689:p.Ser567Tyr	76.0	0.0		62.0	17.0	NM_001166693	B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983544	0.35036	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.66995	-0.24;-0.24;-0.24	6.04	5.18	0.71444	.	0.319347	0.31636	N	0.007315	T	0.77177	0.4092	M	0.66939	2.045	0.43583	D	0.995929	D;D;D	0.58970	0.984;0.984;0.984	P;P;P	0.62184	0.899;0.865;0.899	T	0.79369	-0.1832	10	0.72032	D	0.01	-8.2015	11.7338	0.51752	0.1392:0.727:0.1338:0.0	.	574;567;567	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	Y	574;226;567;205	ENSP00000378578:S574Y;ENSP00000305689:S567Y;ENSP00000440843:S205Y	ENSP00000305689:S567Y	S	+	2	0	AFF1	88254730	0.343000	0.24818	0.986000	0.45419	0.133000	0.20885	1.907000	0.39897	1.528000	0.49103	0.561000	0.74099	TCC	.		0.632	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935	
AFMID	125061	broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	76198608	76198608	+	Silent	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr17:76198608G>A	ENST00000327898.5	+	3	192	c.183G>A	c.(181-183)aaG>aaA	p.K61K	AFMID_ENST00000588800.1_Intron|AFMID_ENST00000409257.5_Silent_p.K61K|AFMID_ENST00000591952.1_Intron					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CCACCAGGAAGAGCCTGCTGC	0.537																																					p.K61K		.											.	AFMID	136	0			c.G183A						.						58.0	62.0	61.0					17																	76198608		2203	4300	6503	SO:0001819	synonymous_variant	125061	exon3			CAGGAAGAGCCTG	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.183G>A	17.37:g.76198608G>A		55.0	0.0		53.0	31.0	NM_001145526		Silent	SNP	ENST00000327898.5	37	CCDS45801.1																																																																																			.		0.537	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1	XM_058889	
AK2	204	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	33478978	33478978	+	Missense_Mutation	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:33478978C>T	ENST00000373449.2	-	6	565	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000548033.1_Missense_Mutation_p.R133Q|AK2_ENST00000467905.1_Missense_Mutation_p.R175Q|AK2_ENST00000354858.6_Missense_Mutation_p.R175Q|AK2_ENST00000480134.1_3'UTR|AK2_ENST00000491241.1_5'Flank	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1			adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ATCATCTGATCGACGGATCAA	0.488																																					p.R175Q		.											.	AK2	252	0			c.G524A						.						69.0	65.0	66.0					1																	33478978		2203	4300	6503	SO:0001583	missense	204	exon6			TCTGATCGACGGA	U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"""Adenylate kinases"""	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000373449.2:c.524G>A	1.37:g.33478978C>T	ENSP00000362548:p.Arg175Gln	161.0	0.0		109.0	44.0	NM_013411		Missense_Mutation	SNP	ENST00000373449.2	37	CCDS373.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260021	0.95368	.	.	ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000354858;ENST00000398192	D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1	5.17	4.26	0.50523	Adenylate kinase, active site lid domain (1);	0.000000	0.85682	D	0.000000	D	0.98732	0.9574	H	0.96889	3.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.998	D	0.99655	1.0992	10	0.87932	D	0	-7.9968	14.7526	0.69536	0.0:0.929:0.0:0.071	.	167;133;175;175	P54819-5;F8VY04;P54819;P54819-2	.;.;KAD2_HUMAN;.	Q	175;133;175;175;175	ENSP00000362548:R175Q;ENSP00000449003:R133Q;ENSP00000447082:R175Q;ENSP00000346921:R175Q	ENSP00000346921:R175Q	R	-	2	0	AK2	33251565	1.000000	0.71417	0.974000	0.42286	0.976000	0.68499	7.786000	0.85741	1.504000	0.48704	0.563000	0.77884	CGA	.		0.488	AK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011884.1	NM_001625	
ALOX12	239	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	6905064	6905064	+	Silent	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr17:6905064C>T	ENST00000251535.6	+	8	1148	c.1095C>T	c.(1093-1095)caC>caT	p.H365H	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000399540.2_3'UTR|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	365	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						TGAACACTCACCTGGTGGCTG	0.527																																					p.H365H		.											.	ALOX12	226	0			c.C1095T						.						105.0	91.0	96.0					17																	6905064		2203	4300	6503	SO:0001819	synonymous_variant	239	exon8			CACTCACCTGGTG	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1095C>T	17.37:g.6905064C>T		95.0	0.0		73.0	19.0	NM_000697	O95569|Q6ISF8|Q9UQM4	Silent	SNP	ENST00000251535.6	37	CCDS11084.1																																																																																			.		0.527	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2		
ALPK2	115701	broad.mit.edu;bcgsc.ca	37	18	56246726	56246726	+	Missense_Mutation	SNP	C	C	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr18:56246726C>G	ENST00000361673.3	-	4	1495	c.1282G>C	c.(1282-1284)Ggg>Cgg	p.G428R	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	428						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGAGTCATCCCTGTTTGTGGG	0.542											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G428R		.											.	ALPK2	765	0			c.G1282C						.						80.0	82.0	82.0					18																	56246726		2203	4300	6503	SO:0001583	missense	115701	exon4			TCATCCCTGTTTG	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1282G>C	18.37:g.56246726C>G	ENSP00000354991:p.Gly428Arg	149.0	0.0	1014	130.0	9.0	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913235	0.52439	.	.	ENSG00000198796	ENST00000361673	T	0.60040	0.22	4.91	4.91	0.64330	.	0.770543	0.10634	N	0.651786	T	0.73713	0.3622	L	0.55481	1.735	0.28421	N	0.917718	D	0.89917	1.0	D	0.69654	0.965	T	0.67764	-0.5586	10	0.66056	D	0.02	-7.2683	17.7068	0.88311	0.0:1.0:0.0:0.0	.	428	Q86TB3	ALPK2_HUMAN	R	428	ENSP00000354991:G428R	ENSP00000354991:G428R	G	-	1	0	ALPK2	54397706	1.000000	0.71417	0.856000	0.33681	0.196000	0.23810	5.093000	0.64517	2.281000	0.76405	0.561000	0.74099	GGG	.		0.542	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
ARHGAP25	9938	hgsc.bcm.edu;bcgsc.ca	37	2	69053300	69053300	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:69053300A>G	ENST00000295381.3	+	11	2331	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.M631V|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.M632V|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.M639V|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.M332V|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.M599V	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	638					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGTCAAATCCATGAAGGAACC	0.547																																					p.M639V		.											.	ARHGAP25	274	0			c.A1915G						.						76.0	80.0	79.0					2																	69053300		2203	4300	6503	SO:0001583	missense	9938	exon11			AAATCCATGAAGG	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1912A>G	2.37:g.69053300A>G	ENSP00000295381:p.Met638Val	102.0	0.0		67.0	4.0	NM_001007231	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37		.	.	.	.	.	.	.	.	.	.	A	11.11	1.542141	0.27563	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000543533;ENST00000479844	T;T;T;T;T;T	0.16457	2.93;2.93;2.67;2.93;2.93;2.34	5.95	-2.02	0.07388	.	0.321333	0.30649	N	0.009176	T	0.05914	0.0154	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.06405	0.0;0.0;0.0;0.0;0.002	T	0.17837	-1.0356	10	0.52906	T	0.07	.	2.262	0.04069	0.5152:0.116:0.2572:0.1116	.	599;639;632;631;638	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331	.;.;.;.;RHG25_HUMAN	V	638;639;599;631;632;623;332	ENSP00000295381:M638V;ENSP00000386911:M639V;ENSP00000420583:M599V;ENSP00000386863:M631V;ENSP00000386241:M632V;ENSP00000417467:M332V	ENSP00000295381:M638V	M	+	1	0	ARHGAP25	68906804	0.003000	0.15002	0.023000	0.16930	0.823000	0.46562	0.493000	0.22451	-0.324000	0.08589	-0.250000	0.11733	ATG	.		0.547	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882	
ARHGEF40	55701	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	21552186	21552186	+	Missense_Mutation	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr14:21552186G>A	ENST00000298694.4	+	17	3893	c.3766G>A	c.(3766-3768)Gtg>Atg	p.V1256M	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.V1256M			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1256						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCTGCTGGCCGTGGAGGCGGT	0.652																																					p.V1256M		.											.	ARHGEF40	228	0			c.G3766A						.						15.0	18.0	17.0					14																	21552186		2199	4300	6499	SO:0001583	missense	55701	exon17			CTGGCCGTGGAGG		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.3766G>A	14.37:g.21552186G>A	ENSP00000298694:p.Val1256Met	160.0	0.0		97.0	35.0	NM_018071	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	9.955	1.221184	0.22457	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02552	4.34;4.25	5.76	5.76	0.90799	.	0.000000	0.47093	D	0.000245	T	0.02418	0.0074	N	0.00823	-1.155	0.40804	D	0.983362	B;B;D	0.89917	0.44;0.313;1.0	B;B;D	0.87578	0.237;0.17;0.998	T	0.60984	-0.7154	10	0.02654	T	1	.	10.8231	0.46617	0.0854:0.0:0.9146:0.0	.	1256;1256;542	Q8TER5-4;Q8TER5;Q8TER5-2	.;ARH40_HUMAN;.	M	1256	ENSP00000298694:V1256M;ENSP00000298693:V1256M	ENSP00000298693:V1256M	V	+	1	0	ARHGEF40	20622026	1.000000	0.71417	0.977000	0.42913	0.684000	0.39900	4.151000	0.58105	2.736000	0.93811	0.655000	0.94253	GTG	.		0.652	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1		
ARID1A	8289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	27056354	27056354	+	Splice_Site	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:27056354G>A	ENST00000324856.7	+	2	1721	c.1350G>A	c.(1348-1350)caG>caA	p.Q450Q	ARID1A_ENST00000457599.2_Splice_Site_p.Q450Q|ARID1A_ENST00000374152.2_Splice_Site_p.Q67Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	450					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATACACAGCAGGTAGATGGTG	0.552			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.Q450Q		.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	ARID1A	584	0			c.G1350A						.						32.0	35.0	34.0					1																	27056354		2203	4300	6503	SO:0001630	splice_region_variant	8289	exon2			ACAGCAGGTAGAT	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1350+1G>A	1.37:g.27056354G>A		315.0	1.0		223.0	129.0	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	CCDS285.1																																																																																			.		0.552	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	Silent
ASAP2	8853	hgsc.bcm.edu;bcgsc.ca	37	2	9541497	9541497	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:9541497T>C	ENST00000281419.3	+	27	3258	c.2918T>C	c.(2917-2919)gTg>gCg	p.V973A	ASAP2_ENST00000315273.4_Missense_Mutation_p.V928A	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	973	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GTGATCATCGTGGACGGGGAG	0.622																																					p.V973A		.											.	ASAP2	90	0			c.T2918C						.						74.0	80.0	78.0					2																	9541497		2198	4297	6495	SO:0001583	missense	8853	exon27			TCATCGTGGACGG	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2918T>C	2.37:g.9541497T>C	ENSP00000281419:p.Val973Ala	138.0	0.0		148.0	7.0	NM_003887	D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	T	32	5.158533	0.94686	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.59906	0.23;0.23	5.66	5.66	0.87406	Src homology-3 domain (4);	0.057951	0.64402	D	0.000002	D	0.82577	0.5067	H	0.94542	3.55	0.58432	D	0.999998	D;P	0.67145	0.996;0.881	D;P	0.76071	0.987;0.777	D	0.87726	0.2576	10	0.87932	D	0	.	15.8923	0.79309	0.0:0.0:0.0:1.0	.	928;973	O43150-2;O43150	.;ASAP2_HUMAN	A	973;928	ENSP00000281419:V973A;ENSP00000316404:V928A	ENSP00000281419:V973A	V	+	2	0	ASAP2	9458948	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	7.679000	0.84048	2.157000	0.67596	0.533000	0.62120	GTG	.		0.622	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887	
ASIP	434	broad.mit.edu;bcgsc.ca;mdanderson.org	37	20	32856830	32856830	+	Silent	SNP	C	C	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr20:32856830C>A	ENST00000568305.1	+	4	458	c.256C>A	c.(256-258)Cgg>Agg	p.R86R	RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Silent_p.R86R			P42127	ASIP_HUMAN	agouti signaling protein	86	Arg/Lys-rich (basic).				adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|generation of precursor metabolites and energy (GO:0006091)|genetic imprinting (GO:0071514)|hormone-mediated signaling pathway (GO:0009755)|melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|regulation of molecular function, epigenetic (GO:0040030)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(2)	3						GGTGCGGCCCCGGACCCCCCT	0.697																																					p.R86R		.											.	ASIP	90	0			c.C256A						.						9.0	12.0	11.0					20																	32856830		2179	4279	6458	SO:0001819	synonymous_variant	434	exon3			CGGCCCCGGACCC		CCDS13232.1	20q11.2-q12	2010-06-24	2010-06-24		ENSG00000101440	ENSG00000101440			745	protein-coding gene	gene with protein product	"""nonagouti homolog (mouse)"""	600201	"""agouti (mouse)-signaling protein"", ""agouti signaling protein, nonagouti homolog (mouse)"""	AGTIL		7937887, 7757071	Standard	NM_001672		Approved	ASP	uc002xah.1	P42127	OTTHUMG00000032289	ENST00000568305.1:c.256C>A	20.37:g.32856830C>A		42.0	0.0		51.0	26.0	NM_001672	Q3SXL2	Silent	SNP	ENST00000568305.1	37	CCDS13232.1																																																																																			.		0.697	ASIP-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430541.1		
ATM	472	broad.mit.edu;ucsc.edu;mdanderson.org	37	11	108127032	108127032	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr11:108127032G>T	ENST00000452508.2	+	15	2404	c.2215G>T	c.(2215-2217)Gaa>Taa	p.E739*	ATM_ENST00000278616.4_Nonsense_Mutation_p.E739*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	739					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGCTGAAGAGGAAGCATATAA	0.353			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.E739X		.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	ATM	3419	0			c.G2215T						.						101.0	99.0	100.0					11																	108127032		2201	4298	6499	SO:0001587	stop_gained	472	exon14	Familial Cancer Database	AT, Louis-Bar syndrome	GAAGAGGAAGCAT	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2215G>T	11.37:g.108127032G>T	ENSP00000388058:p.Glu739*	136.0	1.0		120.0	43.0	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	45	11.624216	0.99583	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	.	.	.	5.45	4.51	0.55191	.	0.169147	0.51477	D	0.000093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	16.3103	0.82865	0.0:0.1326:0.8674:0.0	.	.	.	.	X	739	.	ENSP00000278616:E739X	E	+	1	0	ATM	107632242	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	4.593000	0.61034	1.368000	0.46115	0.557000	0.71058	GAA	.		0.353	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATP10B	23120	hgsc.bcm.edu;bcgsc.ca	37	5	160063301	160063301	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr5:160063301T>C	ENST00000327245.5	-	11	1862	c.1016A>G	c.(1015-1017)aAt>aGt	p.N339S	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	339					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAGGTCCCATTCCAGATGCT	0.498																																					p.N339S		.											.	ATP10B	72	0			c.A1016G						.						91.0	90.0	90.0					5																	160063301		1957	4154	6111	SO:0001583	missense	23120	exon11			GTCCCATTCCAGA	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1016A>G	5.37:g.160063301T>C	ENSP00000313600:p.Asn339Ser	65.0	0.0		85.0	4.0	NM_025153	Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.740137	0.30865	.	.	ENSG00000118322	ENST00000327245	D	0.88354	-2.37	5.18	4.02	0.46733	ATPase, P-type, ATPase-associated domain (1);	0.391334	0.28510	N	0.015087	T	0.75459	0.3852	N	0.10945	0.07	0.26882	N	0.967521	B;B;B;B	0.22683	0.073;0.002;0.008;0.023	B;B;B;B	0.25987	0.065;0.022;0.006;0.033	T	0.61530	-0.7044	9	.	.	.	.	6.6745	0.23085	0.0:0.0824:0.2552:0.6624	.	383;339;311;339	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	S	339	ENSP00000313600:N339S	.	N	-	2	0	ATP10B	159995879	0.997000	0.39634	0.791000	0.31998	0.864000	0.49448	2.903000	0.48711	0.920000	0.36970	-0.389000	0.06534	AAT	.		0.498	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153	
BHLHE40	8553	hgsc.bcm.edu;bcgsc.ca	37	3	5025019	5025019	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr3:5025019T>C	ENST00000256495.3	+	5	1484	c.881T>C	c.(880-882)cTt>cCt	p.L294P		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	294					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CGGATGCAGCTTTCGGATGAT	0.547																																					p.L294P		.											.	BHLHE40	91	0			c.T881C						.						103.0	97.0	99.0					3																	5025019		2203	4300	6503	SO:0001583	missense	8553	exon5			TGCAGCTTTCGGA	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.881T>C	3.37:g.5025019T>C	ENSP00000256495:p.Leu294Pro	95.0	0.0		83.0	5.0	NM_003670	Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	T	2.778	-0.254100	0.05829	.	.	ENSG00000134107	ENST00000256495	T	0.42131	0.98	5.62	3.09	0.35607	.	2.530130	0.02512	N	0.091610	T	0.31606	0.0802	N	0.22421	0.69	0.20403	N	0.99991	B	0.06786	0.001	B	0.06405	0.002	T	0.16958	-1.0385	10	0.36615	T	0.2	-10.7409	5.6528	0.17627	0.0:0.2083:0.1334:0.6584	.	294	O14503	BHE40_HUMAN	P	294	ENSP00000256495:L294P	ENSP00000256495:L294P	L	+	2	0	BHLHE40	5000019	0.511000	0.26179	0.379000	0.26080	0.163000	0.22366	2.540000	0.45727	0.354000	0.24105	0.533000	0.62120	CTT	.		0.547	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670	
BTBD19	149478	hgsc.bcm.edu;bcgsc.ca	37	1	45275896	45275896	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:45275896T>C	ENST00000450269.1	+	2	437	c.98T>C	c.(97-99)tTc>tCc	p.F33S	BTBD19_ENST00000453418.1_Missense_Mutation_p.F33S|BTBD19_ENST00000409335.2_Missense_Mutation_p.F33S|TCTEX1D4_ENST00000372200.1_5'Flank	NM_001136537.1	NP_001130009.1	C9JJ37	BTBDJ_HUMAN	BTB (POZ) domain containing 19	33	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|endometrium(1)	2						GATGTTTGCTTCGTGGTTGGT	0.592																																					p.F33S		.											.	.	.	0			c.T98C						.						54.0	48.0	50.0					1																	45275896		692	1591	2283	SO:0001583	missense	149478	exon2			TTTGCTTCGTGGT			1p34.1	2013-01-08			ENSG00000222009	ENSG00000222009		"""BTB/POZ domain containing"""	27145	protein-coding gene	gene with protein product							Standard	NM_001136537		Approved		uc010ole.1	C9JJ37	OTTHUMG00000008493	ENST00000450269.1:c.98T>C	1.37:g.45275896T>C	ENSP00000395461:p.Phe33Ser	65.0	0.0		80.0	4.0	NM_001136537	B4E384|B7ZC36|B7ZC37	Missense_Mutation	SNP	ENST00000450269.1	37		.	.	.	.	.	.	.	.	.	.	T	23.4	4.412191	0.83340	.	.	ENSG00000222009	ENST00000450269;ENST00000453418;ENST00000409335	T;T;T	0.73258	-0.73;-0.73;-0.73	5.1	5.1	0.69264	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	D	0.87229	0.6125	M	0.92317	3.295	0.36378	D	0.861704	D	0.76494	0.999	D	0.87578	0.998	D	0.92635	0.6119	9	0.87932	D	0	-10.9258	14.091	0.64990	0.0:0.0:0.0:1.0	.	33	C9JJ37	BTBDJ_HUMAN	S	33	ENSP00000395461:F33S;ENSP00000405193:F33S;ENSP00000386506:F33S	ENSP00000386506:F33S	F	+	2	0	BTBD19	45048483	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.741000	0.68638	1.911000	0.55334	0.459000	0.35465	TTC	.		0.592	BTBD19-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001136537	
C4orf22	255119	hgsc.bcm.edu;bcgsc.ca	37	4	81791253	81791254	+	Frame_Shift_Ins	INS	-	-	A	rs146690045		TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr4:81791253_81791254insA	ENST00000358105.3	+	4	489_490	c.440_441insA	c.(439-444)ggaaaafs	p.GK147fs	C4orf22_ENST00000508675.1_Frame_Shift_Ins_p.GK164fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	147								p.G147E(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TACTTTACTGGAAAAAAAAGAC	0.371																																					p.G164fs		.											C4orf22,upper_back,malignant_melanoma,0	C4orf22	93	1	Substitution - Missense(1)	skin(1)	c.491_492insA						.																																			SO:0001589	frameshift_variant	255119	exon5			TTACTGGAAAAAA	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.448dupA	4.37:g.81791261_81791261dupA	ENSP00000350818:p.Gly147fs	279.0	0.0		257.0	74.0	NM_001206997	E7EQ13|Q6ZQY4|Q8N4G9	Frame_Shift_Ins	INS	ENST00000358105.3	37	CCDS3587.1																																																																																			.		0.371	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770	
DRC7	84229	ucsc.edu;bcgsc.ca	37	16	57758704	57758704	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr16:57758704A>G	ENST00000360716.3	+	13	1936	c.1715A>G	c.(1714-1716)aAg>aGg	p.K572R	CCDC135_ENST00000394337.4_Missense_Mutation_p.K572R|CCDC135_ENST00000336825.8_Missense_Mutation_p.K507R			Q8IY82	CC135_HUMAN		572					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CGAGTCAAGAAGCTCACTCTG	0.597																																					p.K572R		.											.	CCDC135	90	0			c.A1715G						.						59.0	51.0	54.0					16																	57758704		2198	4299	6497	SO:0001583	missense	84229	exon12			TCAAGAAGCTCAC																												ENST00000360716.3:c.1715A>G	16.37:g.57758704A>G	ENSP00000353942:p.Lys572Arg	54.0	0.0		40.0	4.0	NM_032269	A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	.	15.09	2.731614	0.48939	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.11063	2.99;2.81;2.99	5.29	5.29	0.74685	.	0.337220	0.31963	N	0.006787	T	0.27278	0.0669	L	0.56340	1.77	0.37466	D	0.915407	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.05517	-1.0880	10	0.33141	T	0.24	-52.4056	14.0587	0.64786	1.0:0.0:0.0:0.0	.	507;572	Q8IY82-2;Q8IY82	.;CC135_HUMAN	R	572;507;572	ENSP00000377869:K572R;ENSP00000338938:K507R;ENSP00000353942:K572R	ENSP00000338938:K507R	K	+	2	0	CCDC135	56316205	0.073000	0.21202	0.927000	0.36925	0.094000	0.18550	2.178000	0.42519	2.004000	0.58718	0.533000	0.62120	AAG	.		0.597	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2		
CCNB1	891	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	68467214	68467214	+	Missense_Mutation	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr5:68467214G>A	ENST00000256442.5	+	4	734	c.481G>A	c.(481-483)Gga>Aga	p.G161R		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	161					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TGCAGAAGATGGAGCTGATCC	0.388																																					p.G161R		.											.	CCNB1	650	0			c.G481A						.						145.0	143.0	143.0					5																	68467214		2203	4300	6503	SO:0001583	missense	891	exon4			GAAGATGGAGCTG	U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.481G>A	5.37:g.68467214G>A	ENSP00000256442:p.Gly161Arg	237.0	0.0		286.0	88.0	NM_031966	A8K066|Q5TZP9	Missense_Mutation	SNP	ENST00000256442.5	37	CCDS3997.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601127	0.28534	.	.	ENSG00000134057	ENST00000256442;ENST00000506572;ENST00000508407;ENST00000505500	T;T;T;T	0.31510	2.78;2.78;1.49;2.56	5.62	4.56	0.56223	Cyclin-like (1);	0.330907	0.32301	N	0.006291	T	0.29256	0.0728	L	0.56769	1.78	0.32326	N	0.56171	P;B;B	0.41475	0.751;0.01;0.001	B;B;B	0.41723	0.365;0.007;0.007	T	0.28427	-1.0044	10	0.24483	T	0.36	.	9.1402	0.36899	0.0875:0.0:0.7618:0.1507	.	161;161;161	E9PC90;Q5TZP9;P14635	.;.;CCNB1_HUMAN	R	161	ENSP00000256442:G161R;ENSP00000423387:G161R;ENSP00000426092:G161R;ENSP00000424588:G161R	ENSP00000256442:G161R	G	+	1	0	CCNB1	68502970	0.140000	0.22579	1.000000	0.80357	0.892000	0.51952	1.519000	0.35888	2.640000	0.89533	0.591000	0.81541	GGA	.		0.388	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1	NM_031966	
CENPE	1062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	104053878	104053878	+	Missense_Mutation	SNP	A	A	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr4:104053878A>T	ENST00000265148.3	-	42	6985	c.6896T>A	c.(6895-6897)gTg>gAg	p.V2299E	CENPE_ENST00000380026.3_Missense_Mutation_p.V2178E	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2299	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GAAGTTATTCACTTGACAAAT	0.289																																					p.V2299E		.											.	CENPE	277	0			c.T6896A						.						71.0	75.0	74.0					4																	104053878		2201	4295	6496	SO:0001583	missense	1062	exon42			TTATTCACTTGAC	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6896T>A	4.37:g.104053878A>T	ENSP00000265148:p.Val2299Glu	348.0	0.0		236.0	92.0	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016421	0.75161	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.76578	-1.03;-0.98	5.36	5.36	0.76844	.	.	.	.	.	D	0.85340	0.5674	L	0.56769	1.78	0.23537	N	0.997464	D;D	0.89917	1.0;0.998	D;P	0.87578	0.998;0.905	T	0.77086	-0.2718	9	0.66056	D	0.02	.	12.0565	0.53538	1.0:0.0:0.0:0.0	.	2178;2299	Q02224-3;Q02224	.;CENPE_HUMAN	E	2299;2263;2178	ENSP00000265148:V2299E;ENSP00000369365:V2178E	ENSP00000265148:V2299E	V	-	2	0	CENPE	104273327	1.000000	0.71417	0.995000	0.50966	0.925000	0.55904	4.702000	0.61817	2.158000	0.67659	0.523000	0.50628	GTG	.		0.289	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CHD5	26038	hgsc.bcm.edu;bcgsc.ca	37	1	6188597	6188597	+	Missense_Mutation	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:6188597G>A	ENST00000262450.3	-	24	3791	c.3692C>T	c.(3691-3693)gCc>gTc	p.A1231V	CHD5_ENST00000378021.1_Missense_Mutation_p.A88V	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCACTGGCGGCCAAGTTCCC	0.627																																					p.A1231V		.											.	CHD5	719	0			c.C3692T						.						58.0	61.0	60.0					1																	6188597		2203	4300	6503	SO:0001583	missense	26038	exon24			CTGGCGGCCAAGT	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3692C>T	1.37:g.6188597G>A	ENSP00000262450:p.Ala1231Val	153.0	0.0		79.0	4.0	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172138	0.57584	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.90620	-2.7;2.27	4.48	4.48	0.54585	.	1.006430	0.07998	N	0.988353	D	0.83940	0.5363	N	0.19112	0.55	0.19300	N	0.99997	B;B	0.15719	0.014;0.008	B;B	0.14023	0.01;0.004	T	0.64651	-0.6357	10	0.11182	T	0.66	-1.0944	14.289	0.66265	0.0:0.0:1.0:0.0	.	1231;88	Q8TDI0;Q5TG85	CHD5_HUMAN;.	V	1231;747;88;639;639;88	ENSP00000262450:A1231V;ENSP00000367260:A88V	ENSP00000262450:A1231V	A	-	2	0	CHD5	6111184	0.950000	0.32346	0.760000	0.31359	0.688000	0.40055	5.667000	0.68067	2.045000	0.60652	0.313000	0.20887	GCC	.		0.627	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
CHRNA2	1135	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	27320514	27320514	+	Silent	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr8:27320514A>G	ENST00000520933.2	-	5	1599	c.1446T>C	c.(1444-1446)tcT>tcC	p.S482S	CHRNA2_ENST00000240132.2_Silent_p.S467S|CHRNA2_ENST00000407991.1_Silent_p.S482S			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	482					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	CAGCATCCTCAGACCGCAGGT	0.617																																					p.S482S		.											.	CHRNA2	91	0			c.T1446C						.						138.0	120.0	126.0					8																	27320514		2203	4300	6503	SO:0001819	synonymous_variant	1135	exon6			ATCCTCAGACCGC	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.1446T>C	8.37:g.27320514A>G		120.0	0.0		117.0	26.0	NM_000742	A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Silent	SNP	ENST00000520933.2	37	CCDS6059.1																																																																																			.		0.617	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4		
CLASP1	23332	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	122227423	122227423	+	Missense_Mutation	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:122227423G>A	ENST00000263710.4	-	9	1215	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	CLASP1_ENST00000545861.1_Missense_Mutation_p.R44C|CLASP1_ENST00000409078.3_Missense_Mutation_p.R276C|CLASP1_ENST00000541859.1_Missense_Mutation_p.R45C|CLASP1_ENST00000541377.1_Missense_Mutation_p.R276C|CLASP1_ENST00000455322.2_Missense_Mutation_p.R276C|CLASP1_ENST00000397587.3_Missense_Mutation_p.R276C|CLASP1_ENST00000430234.1_5'UTR	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	276					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CCAAGCCGGCGGGTGGTTCCC	0.517																																					p.R276C		.											.	CLASP1	91	0			c.C826T						.						68.0	70.0	69.0					2																	122227423		1904	4138	6042	SO:0001583	missense	23332	exon9			GCCGGCGGGTGGT	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.826C>T	2.37:g.122227423G>A	ENSP00000263710:p.Arg276Cys	96.0	0.0		108.0	6.0	NM_001207051	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37		.	.	.	.	.	.	.	.	.	.	G	21.4	4.140626	0.77775	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861;ENST00000418989;ENST00000449975	T;T;T;T;T;T;T;T	0.50813	1.99;2.01;2.0;2.02;0.73;2.01;0.73;0.75	4.75	4.75	0.60458	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67183	0.2866	M	0.61703	1.905	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.997;0.995;0.997	T	0.70044	-0.4980	10	0.59425	D	0.04	-19.0472	18.1235	0.89579	0.0:0.0:1.0:0.0	.	276;276;276;276	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	C	276;276;276;276;45;276;44;45;45	ENSP00000263710:R276C;ENSP00000389372:R276C;ENSP00000380717:R276C;ENSP00000441625:R276C;ENSP00000441770:R45C;ENSP00000386442:R276C;ENSP00000392886:R45C;ENSP00000402101:R45C	ENSP00000263710:R276C	R	-	1	0	CLASP1	121943893	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	3.889000	0.56212	2.363000	0.80096	0.460000	0.39030	CGC	.		0.517	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	
CNKSR1	10256	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	26514760	26514760	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:26514760A>G	ENST00000374253.5	+	17	1550	c.1511A>G	c.(1510-1512)tAc>tGc	p.Y504C	CNKSR1_ENST00000531191.1_Missense_Mutation_p.Y239C|CATSPER4_ENST00000456354.2_5'Flank|CNKSR1_ENST00000361530.6_Missense_Mutation_p.Y497C	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	504					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTCCAAGTACCAGTCTCCA	0.607																																					p.Y497C	NSCLC(180;1396 2109 28270 30756 34275)	.											.	CNKSR1	846	0			c.A1490G						.						85.0	83.0	84.0					1																	26514760		2203	4300	6503	SO:0001583	missense	10256	exon17			CCAAGTACCAGTC	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1511A>G	1.37:g.26514760A>G	ENSP00000363371:p.Tyr504Cys	118.0	0.0		78.0	42.0	NM_006314	B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37		.	.	.	.	.	.	.	.	.	.	A	21.0	4.078803	0.76528	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.16597	2.36;2.37;2.33	5.82	4.7	0.59300	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.119371	0.56097	D	0.000021	T	0.36276	0.0961	M	0.63428	1.95	0.39724	D	0.971518	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.16394	-1.0404	10	0.72032	D	0.01	-21.9064	10.4071	0.44266	0.9263:0.0:0.0737:0.0	.	504;497	Q969H4;Q53GM7	CNKR1_HUMAN;.	C	497;504;239	ENSP00000354609:Y497C;ENSP00000363371:Y504C;ENSP00000431817:Y239C	ENSP00000354609:Y497C	Y	+	2	0	CNKSR1	26387347	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.837000	0.55820	1.041000	0.40125	0.533000	0.62120	TAC	.		0.607	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314	
CNOT10	25904	hgsc.bcm.edu;bcgsc.ca	37	3	32811404	32811404	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr3:32811404A>G	ENST00000328834.5	+	18	2346	c.2030A>G	c.(2029-2031)gAg>gGg	p.E677G	CNOT10_ENST00000331889.6_Missense_Mutation_p.E650G|CNOT10_ENST00000454516.2_Missense_Mutation_p.E737G	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	677					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CATCCTAAAGAGGTGCCCCCT	0.453																																					p.E737G		.											.	CNOT10	91	0			c.A2210G						.						126.0	127.0	127.0					3																	32811404		2203	4300	6503	SO:0001583	missense	25904	exon18			CTAAAGAGGTGCC	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.2030A>G	3.37:g.32811404A>G	ENSP00000330060:p.Glu677Gly	93.0	0.0		82.0	4.0	NM_001256742	B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	ENST00000328834.5	37	CCDS2655.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.985415	0.93044	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000454516;ENST00000430408	T;T;T	0.29397	1.57;1.57;1.57	5.52	5.52	0.82312	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.63880	0.98;0.974;0.993;0.979	P;P;D;P	0.63033	0.718;0.736;0.91;0.628	T	0.38308	-0.9667	10	0.39692	T	0.17	-22.7079	15.6346	0.76941	1.0:0.0:0.0:0.0	.	737;650;676;677	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	G	650;677;737;212	ENSP00000329376:E650G;ENSP00000330060:E677G;ENSP00000399862:E737G	ENSP00000330060:E677G	E	+	2	0	CNOT10	32786408	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	9.339000	0.96797	2.093000	0.63338	0.460000	0.39030	GAG	.		0.453	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442	
COBLL1	22837	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	165552127	165552127	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:165552127T>C	ENST00000392717.2	-	13	2007	c.2003A>G	c.(2002-2004)aAt>aGt	p.N668S	COBLL1_ENST00000375458.2_Missense_Mutation_p.N592S|COBLL1_ENST00000194871.6_Missense_Mutation_p.N697S|COBLL1_ENST00000342193.4_Missense_Mutation_p.N630S|COBLL1_ENST00000409184.3_Missense_Mutation_p.N630S			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	668						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ACTGGGTTGATTCAGTTTTTG	0.398																																					p.N630S		.											.	COBLL1	93	0			c.A1889G						.						304.0	298.0	300.0					2																	165552127		2203	4300	6503	SO:0001583	missense	22837	exon12			GGTTGATTCAGTT	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2003A>G	2.37:g.165552127T>C	ENSP00000376478:p.Asn668Ser	667.0	0.0		654.0	232.0	NM_014900	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	T	5.660	0.306376	0.10733	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.06	0.816	0.18768	.	0.379490	0.28290	N	0.015888	T	0.26666	0.0652	L	0.44542	1.39	0.09310	N	1	B;B;B	0.20671	0.028;0.028;0.047	B;B;B	0.22152	0.017;0.019;0.038	T	0.24048	-1.0171	9	0.09338	T	0.73	-10.2753	5.9997	0.19513	0.1127:0.2637:0.0:0.6236	.	668;697;630	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	S	592;630;630;668;697	.	ENSP00000194871:N697S	N	-	2	0	COBLL1	165260373	0.920000	0.31207	0.789000	0.31954	0.744000	0.42396	0.644000	0.24766	0.148000	0.19059	0.533000	0.62120	AAT	.		0.398	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900	
COL16A1	1307	hgsc.bcm.edu;bcgsc.ca	37	1	32149600	32149600	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:32149600T>C	ENST00000373672.3	-	33	2804	c.2288A>G	c.(2287-2289)cAa>cGa	p.Q763R	COL16A1_ENST00000373668.3_Missense_Mutation_p.Q763R|COL16A1_ENST00000271069.6_Missense_Mutation_p.Q762R	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	763	Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TAGACCGGGTTGGCCCTAAAA	0.647																																					p.Q763R	Colon(143;498 1786 21362 25193 36625)	.											.	COL16A1	98	0			c.A2288G						.						46.0	51.0	50.0					1																	32149600		1966	4130	6096	SO:0001583	missense	1307	exon33			CCGGGTTGGCCCT	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2288A>G	1.37:g.32149600T>C	ENSP00000362776:p.Gln763Arg	164.0	0.0		105.0	5.0	NM_001856	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.059818	0.55325	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	D;D;D	0.93547	-3.24;-3.24;-3.24	4.92	4.92	0.64577	.	0.222271	0.37906	N	0.001885	D	0.87912	0.6297	L	0.28014	0.82	0.33396	D	0.576764	B;B;B	0.23650	0.089;0.043;0.073	B;B;B	0.29077	0.098;0.01;0.022	D	0.86160	0.1593	10	0.17369	T	0.5	.	12.7489	0.57298	0.0:0.0:0.0:1.0	.	763;763;763	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	R	763;762;763	ENSP00000362776:Q763R;ENSP00000271069:Q762R;ENSP00000362772:Q763R	ENSP00000271069:Q762R	Q	-	2	0	COL16A1	31922187	0.996000	0.38824	1.000000	0.80357	0.958000	0.62258	1.164000	0.31810	2.152000	0.67230	0.402000	0.26972	CAA	.		0.647	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	
COL11A1	1301	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	103364262	103364262	+	Missense_Mutation	SNP	T	T	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:103364262T>A	ENST00000370096.3	-	56	4520	c.4208A>T	c.(4207-4209)aAg>aTg	p.K1403M	COL11A1_ENST00000512756.1_Missense_Mutation_p.K1287M|COL11A1_ENST00000353414.4_Missense_Mutation_p.K1364M|COL11A1_ENST00000358392.2_Missense_Mutation_p.K1415M	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1403	Collagen-like 6.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGACCAGGCTTTCCTGCAGG	0.458																																					p.K1415M		.											.	COL11A1	586	0			c.A4244T						.						45.0	48.0	47.0					1																	103364262		2203	4300	6503	SO:0001583	missense	1301	exon56			CCAGGCTTTCCTG	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4208A>T	1.37:g.103364262T>A	ENSP00000359114:p.Lys1403Met	202.0	0.0		421.0	63.0	NM_080629	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.160808	0.78226	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.93012	0.7776	N	0.21448	0.665	0.80722	D	1	D;D;B;D;D	0.89917	1.0;1.0;0.126;1.0;1.0	D;D;P;D;D	0.91635	0.999;0.998;0.766;0.999;0.998	D	0.94853	0.8015	10	0.72032	D	0.01	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	1287;1364;1415;1403;623	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	M	1403;1415;1364;623;1287	ENSP00000359114:K1403M;ENSP00000351163:K1415M;ENSP00000302551:K1364M;ENSP00000426533:K1287M	ENSP00000302551:K1364M	K	-	2	0	COL11A1	103136850	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.968000	0.87980	2.323000	0.78572	0.528000	0.53228	AAG	.		0.458	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
COL6A6	131873	hgsc.bcm.edu;bcgsc.ca	37	3	130285737	130285737	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr3:130285737A>G	ENST00000358511.6	+	4	1505	c.1474A>G	c.(1474-1476)Aaa>Gaa	p.K492E	COL6A6_ENST00000453409.2_Missense_Mutation_p.K492E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	492	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAGATCAATAAATACTCCAA	0.488																																					p.K492E		.											.	COL6A6	76	0			c.A1474G						.						114.0	116.0	115.0					3																	130285737		1909	4116	6025	SO:0001583	missense	131873	exon4			ATCAATAAATACT	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1474A>G	3.37:g.130285737A>G	ENSP00000351310:p.Lys492Glu	148.0	0.0		123.0	5.0	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	A	3.309	-0.141255	0.06669	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.77098	-1.07;-1.07	5.18	4.0	0.46444	von Willebrand factor, type A (3);	0.185922	0.37955	N	0.001874	T	0.54127	0.1839	N	0.16066	0.365	0.09310	N	1	B	0.22909	0.077	B	0.24848	0.056	T	0.44267	-0.9339	10	0.02654	T	1	.	6.5047	0.22188	0.6208:0.3012:0.0781:0.0	.	492	A6NMZ7	CO6A6_HUMAN	E	492	ENSP00000351310:K492E;ENSP00000399236:K492E	ENSP00000351310:K492E	K	+	1	0	COL6A6	131768427	0.000000	0.05858	0.073000	0.20177	0.867000	0.49689	0.386000	0.20702	0.794000	0.33899	0.459000	0.35465	AAA	.		0.488	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
CPS1	1373	hgsc.bcm.edu;bcgsc.ca	37	2	211523405	211523405	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:211523405A>G	ENST00000233072.5	+	31	3945	c.3749A>G	c.(3748-3750)gAt>gGt	p.D1250G	CPS1_ENST00000451903.2_Missense_Mutation_p.D799G|CPS1_ENST00000430249.2_Missense_Mutation_p.D1256G	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1250	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AAAGGAAATGATGTCTTGGTA	0.438																																					p.D1256G		.											.	CPS1	162	0			c.A3767G						.						101.0	93.0	95.0					2																	211523405		2203	4300	6503	SO:0001583	missense	1373	exon32			GAAATGATGTCTT	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3749A>G	2.37:g.211523405A>G	ENSP00000233072:p.Asp1250Gly	121.0	0.0		91.0	4.0	NM_001122633	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.139075	0.56936	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97303	-4.33;-4.33;-4.33	5.76	4.6	0.57074	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.145114	0.64402	D	0.000011	D	0.97077	0.9045	M	0.85945	2.785	0.43267	D	0.995213	B;B	0.33883	0.43;0.43	B;B	0.40982	0.345;0.345	D	0.96161	0.9115	10	0.87932	D	0	-14.2383	11.5602	0.50772	0.9302:0.0:0.0698:0.0	.	1260;1250	Q59HF8;P31327	.;CPSM_HUMAN	G	1256;1258;1250;799	ENSP00000402608:D1256G;ENSP00000233072:D1250G;ENSP00000406136:D799G	ENSP00000233072:D1250G	D	+	2	0	CPS1	211231650	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	8.625000	0.90965	0.995000	0.38917	0.460000	0.39030	GAT	.		0.438	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
CPT1C	126129	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	50209501	50209501	+	Missense_Mutation	SNP	C	C	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr19:50209501C>A	ENST00000392518.4	+	12	1546	c.1174C>A	c.(1174-1176)Cag>Aag	p.Q392K	CPT1C_ENST00000354199.5_Missense_Mutation_p.Q392K|CPT1C_ENST00000323446.5_Missense_Mutation_p.Q392K|CPT1C_ENST00000405931.2_Missense_Mutation_p.Q381K|CPT1C_ENST00000598293.1_Missense_Mutation_p.Q392K	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	392					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CACGTGGGCCCAGGTGCGGAC	0.697																																					p.Q392K		.											.	CPT1C	92	0			c.C1174A						.						23.0	31.0	28.0					19																	50209501		2192	4290	6482	SO:0001583	missense	126129	exon12			TGGGCCCAGGTGC	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1174C>A	19.37:g.50209501C>A	ENSP00000376303:p.Gln392Lys	49.0	0.0		67.0	15.0	NM_001199752	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.578559	0.00879	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	4.01	2.95	0.34219	.	0.155307	0.30320	N	0.009886	T	0.77377	0.4121	N	0.11255	0.115	0.29003	N	0.887367	B;P;B;B	0.50272	0.018;0.933;0.002;0.0	B;P;B;B	0.47251	0.055;0.542;0.004;0.006	T	0.71104	-0.4689	10	0.09843	T	0.71	-10.9048	8.0047	0.30319	0.1816:0.6424:0.176:0.0	.	263;392;381;392	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	K	392;392;381;392;263	ENSP00000376303:Q392K;ENSP00000346138:Q392K;ENSP00000384465:Q381K;ENSP00000319343:Q392K	ENSP00000295404:Q263K	Q	+	1	0	CPT1C	54901313	0.657000	0.27393	0.990000	0.47175	0.116000	0.19942	0.693000	0.25497	0.889000	0.36185	-0.519000	0.04390	CAG	.		0.697	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359	
CTSK	1513	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	150778691	150778691	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:150778691T>C	ENST00000271651.3	-	3	240	c.130A>G	c.(130-132)Atc>Gtc	p.I44V	CTSK_ENST00000480670.1_Intron	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	44					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGCCGAGAGATTTCATCCACC	0.368																																					p.I44V		.											.	CTSK	91	0			c.A130G						.						51.0	52.0	52.0					1																	150778691		2203	4300	6503	SO:0001583	missense	1513	exon3			GAGAGATTTCATC	BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"""Cathepsins"""	2536	protein-coding gene	gene with protein product		601105	"""cathepsin K (pycnodysostosis)"""	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.130A>G	1.37:g.150778691T>C	ENSP00000271651:p.Ile44Val	133.0	1.0		341.0	258.0	NM_000396	Q6FHS6	Missense_Mutation	SNP	ENST00000271651.3	37	CCDS969.1	.	.	.	.	.	.	.	.	.	.	T	7.890	0.732120	0.15507	.	.	ENSG00000143387	ENST00000271651;ENST00000443913	D;D	0.85339	-1.97;-1.97	5.57	3.21	0.36854	Proteinase inhibitor I29, cathepsin propeptide (2);	0.596147	0.18243	N	0.147179	T	0.38852	0.1056	N	0.02142	-0.665	0.33544	D	0.595303	B	0.02656	0.0	B	0.01281	0.0	T	0.03202	-1.1061	10	0.14656	T	0.56	.	6.2491	0.20835	0.0:0.0804:0.3058:0.6137	.	44	P43235	CATK_HUMAN	V	44;103	ENSP00000271651:I44V;ENSP00000405083:I103V	ENSP00000271651:I44V	I	-	1	0	CTSK	149045315	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.138000	0.16016	0.382000	0.24878	0.459000	0.35465	ATC	.		0.368	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084732.1	NM_000396	
CYP27C1	339761	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	127958787	127958787	+	Missense_Mutation	SNP	T	T	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:127958787T>G	ENST00000335247.7	-	3	429	c.299A>C	c.(298-300)tAt>tCt	p.Y100S	CYP27C1_ENST00000409327.1_Missense_Mutation_p.Y100S	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	100						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GGCGCCTGCATACATGGAGGT	0.537																																					p.Y100S		.											.	CYP27C1	90	0			c.A299C						.						116.0	117.0	116.0					2																	127958787		2203	4300	6503	SO:0001583	missense	339761	exon3			CCTGCATACATGG	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"""Cytochrome P450s"""	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.299A>C	2.37:g.127958787T>G	ENSP00000334128:p.Tyr100Ser	94.0	0.0		88.0	31.0	NM_001001665	Q6ZNI7	Missense_Mutation	SNP	ENST00000335247.7	37	CCDS33285.1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.280568	0.59758	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.67171	-0.25;-0.25	4.04	2.82	0.32997	.	0.072732	0.56097	D	0.000023	T	0.61999	0.2392	L	0.35487	1.065	0.44719	D	0.99771	P	0.51240	0.943	P	0.52109	0.69	T	0.59241	-0.7491	10	0.51188	T	0.08	-10.4256	8.4863	0.33074	0.0:0.1022:0.0:0.8978	.	100	Q4G0S4	C27C1_HUMAN	S	100	ENSP00000334128:Y100S;ENSP00000387198:Y100S	ENSP00000334128:Y100S	Y	-	2	0	CYP27C1	127675257	1.000000	0.71417	0.529000	0.27951	0.866000	0.49608	2.923000	0.48868	0.394000	0.25230	-0.366000	0.07423	TAT	.		0.537	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665	
DBR1	51163	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	137880850	137880850	+	Missense_Mutation	SNP	T	T	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr3:137880850T>A	ENST00000260803.4	-	8	1669	c.1516A>T	c.(1516-1518)Acc>Tcc	p.T506S	DBR1_ENST00000505015.2_Missense_Mutation_p.T272S	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	506					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GGCACCTTGGTTAAGTCCTCT	0.448																																					p.T506S		.											.	DBR1	90	0			c.A1516T						.						208.0	195.0	200.0					3																	137880850		2203	4300	6503	SO:0001583	missense	51163	exon8			CCTTGGTTAAGTC	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1516A>T	3.37:g.137880850T>A	ENSP00000260803:p.Thr506Ser	602.0	0.0		540.0	194.0	NM_016216	Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	37	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	T	1.206	-0.631146	0.03584	.	.	ENSG00000138231	ENST00000260803;ENST00000505015	T	0.42513	0.97	5.59	1.79	0.24919	.	1.023440	0.07748	N	0.948007	T	0.23611	0.0571	N	0.25647	0.755	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.28235	-1.0050	10	0.08381	T	0.77	-8.8053	2.2824	0.04118	0.148:0.084:0.3067:0.4612	.	506;274	Q9UK59;Q9UK59-2	DBR1_HUMAN;.	S	506;272	ENSP00000260803:T506S	ENSP00000260803:T506S	T	-	1	0	DBR1	139363540	0.000000	0.05858	0.009000	0.14445	0.497000	0.33675	0.240000	0.18042	0.063000	0.16370	0.533000	0.62120	ACC	.		0.448	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1		
DND1	373863	hgsc.bcm.edu;bcgsc.ca	37	5	140052972	140052972	+	Splice_Site	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr5:140052972A>G	ENST00000542735.1	-	2	69	c.26T>C	c.(25-27)cTg>cCg	p.L9P	HARS_ENST00000504156.1_3'UTR	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	9					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACACCACAGCTGAGAGGG	0.647																																					p.L9P		.											.	DND1	90	0			c.T26C						.						53.0	53.0	53.0					5																	140052972		2203	4300	6503	SO:0001630	splice_region_variant	373863	exon2			CACCACAGCTGAG	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"""RNA binding motif (RRM) containing"""	23799	protein-coding gene	gene with protein product		609385	"""dead end homolog 1 (zebrafish)"""			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.25-1T>C	5.37:g.140052972A>G		97.0	0.0		121.0	5.0	NM_194249		Missense_Mutation	SNP	ENST00000542735.1	37	CCDS4236.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852215	0.32699	.	.	ENSG00000256453	ENST00000542735	T	0.33865	1.39	4.7	3.52	0.40303	.	0.299359	0.22494	N	0.059325	T	0.16300	0.0392	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.05750	-1.0866	10	0.30854	T	0.27	-2.1486	5.2348	0.15441	0.4857:0.125:0.0:0.3893	.	9	Q8IYX4	DND1_HUMAN	P	9	ENSP00000445366:L9P	ENSP00000445366:L9P	L	-	2	0	DND1	140033156	0.193000	0.23313	0.998000	0.56505	0.705000	0.40729	1.105000	0.31086	0.790000	0.33803	0.379000	0.24179	CTG	.		0.647	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249	Missense_Mutation
DXO	1797	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	31938796	31938796	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr6:31938796A>G	ENST00000375349.3	-	3	896	c.485T>C	c.(484-486)cTg>cCg	p.L162P	DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_5'Flank|DXO_ENST00000337523.5_Missense_Mutation_p.L162P|DXO_ENST00000375356.3_Missense_Mutation_p.L162P|STK19_ENST00000375331.2_5'Flank			O77932	DXO_HUMAN	decapping exoribonuclease	162					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)										CACTTCACTCAGGTATAGTGT	0.602																																					p.L162P		.											.	DOM3Z	90	0			c.T485C						.						87.0	101.0	96.0					6																	31938796		1510	2707	4217	SO:0001583	missense	1797	exon3			TCACTCAGGTATA	AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"""DOM-3 (C. elegans) homolog Z"", ""dom-3 homolog Z (C. elegans)"""	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.485T>C	6.37:g.31938796A>G	ENSP00000364498:p.Leu162Pro	86.0	1.0		77.0	32.0	NM_005510	A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Missense_Mutation	SNP	ENST00000375349.3	37	CCDS4732.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.391947	0.62066	.	.	ENSG00000204348	ENST00000337523;ENST00000375349;ENST00000375356	T;T;T	0.24538	1.85;1.85;1.85	4.71	4.71	0.59529	.	0.152498	0.42420	D	0.000710	T	0.40694	0.1127	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.965;0.975	T	0.43523	-0.9386	10	0.87932	D	0	-10.8244	13.288	0.60253	1.0:0.0:0.0:0.0	.	162;162	F8WC68;O77932	.;DOM3Z_HUMAN	P	162	ENSP00000337759:L162P;ENSP00000364498:L162P;ENSP00000364505:L162P	ENSP00000337759:L162P	L	-	2	0	DOM3Z	32046775	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	8.329000	0.90017	1.970000	0.57323	0.459000	0.35465	CTG	.		0.602	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076592.3		
DPPA2	151871	hgsc.bcm.edu;bcgsc.ca	37	3	109028179	109028179	+	Splice_Site	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr3:109028179T>C	ENST00000478945.1	-	4	428		c.e4-2			NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2						lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTAGATGACCTAAGACAAGAA	0.393																																					.		.											.	DPPA2	93	0			c.182-2A>G						.						89.0	88.0	88.0					3																	109028179		2203	4300	6503	SO:0001630	splice_region_variant	151871	exon5			ATGACCTAAGACA	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.182-2A>G	3.37:g.109028179T>C		210.0	0.0		124.0	5.0	NM_138815	Q8WVF0	Splice_Site	SNP	ENST00000478945.1	37	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.455084	0.26161	.	.	ENSG00000163530	ENST00000478945	.	.	.	4.97	1.23	0.21249	.	.	.	.	.	.	.	.	.	.	.	0.29211	N	0.874552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.9406	0.09325	0.0:0.1895:0.1832:0.6273	.	.	.	.	.	-1	.	.	.	-	.	.	DPPA2	110510869	0.003000	0.15002	0.003000	0.11579	0.379000	0.30106	-0.024000	0.12435	0.130000	0.18549	0.459000	0.35465	.	.		0.393	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815	Intron
E2F6	1876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	11587894	11587894	+	Missense_Mutation	SNP	T	T	C	rs371114161		TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:11587894T>C	ENST00000381525.3	-	6	927	c.658A>G	c.(658-660)Atc>Gtc	p.I220V	E2F6_ENST00000546212.1_Missense_Mutation_p.I145V|E2F6_ENST00000307236.4_Missense_Mutation_p.I188V|E2F6_ENST00000542100.1_Missense_Mutation_p.I145V|E2F6_ENST00000362009.4_Silent_p.L129L	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	220	Dimerization. {ECO:0000255}.|Transcription repression.			I -> V (in Ref. 10; AAC14694). {ECO:0000305}.	negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		TGCACTGTGATAGAGTCCTAG	0.413																																					p.I220V		.											.	E2F6	838	0			c.A658G						.	T	VAL/ILE	1,3783		0,1,1891	59.0	52.0	54.0		658	4.1	0.6	2		54	0,8254		0,0,4127	no	missense	E2F6	NM_198256.2	29	0,1,6018	CC,CT,TT		0.0,0.0264,0.0083	benign	220/282	11587894	1,12037	1892	4127	6019	SO:0001583	missense	1876	exon6			CTGTGATAGAGTC	AF041381	CCDS1680.2, CCDS62858.1, CCDS62859.1	2p25.1	2008-02-05			ENSG00000169016	ENSG00000169016			3120	protein-coding gene	gene with protein product		602944				9501179	Standard	NM_198256		Approved	E2F-6	uc002rbh.4	O75461	OTTHUMG00000090565	ENST00000381525.3:c.658A>G	2.37:g.11587894T>C	ENSP00000370936:p.Ile220Val	265.0	0.0		141.0	55.0	NM_198256	A8K2Z8|G5E936|O60544|Q53QY9|Q6Q9Z6|Q7Z2H6	Missense_Mutation	SNP	ENST00000381525.3	37	CCDS1680.2	.	.	.	.	.	.	.	.	.	.	T	12.81	2.050901	0.36181	2.64E-4	0.0	ENSG00000169016	ENST00000381525;ENST00000307236;ENST00000542100;ENST00000546212	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.21	4.05	0.47172	.	0.092120	0.64402	N	0.000001	D	0.82765	0.5108	M	0.62723	1.935	0.80722	D	1	B;B	0.21452	0.004;0.056	B;B	0.17722	0.006;0.019	T	0.75434	-0.3319	10	0.24483	T	0.36	-33.8571	9.0229	0.36211	0.0:0.0941:0.0:0.9059	.	220;188	O75461;G5E936	E2F6_HUMAN;.	V	220;188;145;145	ENSP00000370936:I220V;ENSP00000302159:I188V;ENSP00000446315:I145V;ENSP00000438864:I145V	ENSP00000302159:I188V	I	-	1	0	E2F6	11505345	0.963000	0.33076	0.622000	0.29159	0.904000	0.53231	1.662000	0.37418	0.923000	0.37045	0.533000	0.62120	ATC	.		0.413	E2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207101.2	NM_001952	
ECEL1	9427	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	233344956	233344956	+	Silent	SNP	C	C	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:233344956C>A	ENST00000304546.1	-	18	2445	c.2235G>T	c.(2233-2235)ctG>ctT	p.L745L	ECEL1_ENST00000409941.1_Silent_p.L743L	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	745					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACACACTGCCCAGCACCCTGG	0.617																																					p.L745L		.											.	ECEL1	90	0			c.G2235T						.						74.0	61.0	65.0					2																	233344956		2203	4300	6503	SO:0001819	synonymous_variant	9427	exon18			ACTGCCCAGCACC	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.2235G>T	2.37:g.233344956C>A		143.0	0.0		102.0	49.0	NM_004826	Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Silent	SNP	ENST00000304546.1	37	CCDS2493.1																																																																																			.		0.617	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826	
ENO1	2023	hgsc.bcm.edu;bcgsc.ca	37	1	8930511	8930511	+	Splice_Site	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:8930511C>T	ENST00000234590.4	-	4	359	c.240G>A	c.(238-240)aaG>aaA	p.K80K		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	80					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CAGGTCCTACCTTGCTAACCA	0.458																																					p.K80K	Esophageal Squamous(21;302 608 19946 22210 33560)	.											.	ENO1	652	0			c.G240A						.						96.0	82.0	87.0					1																	8930511		2203	4300	6503	SO:0001630	splice_region_variant	2023	exon4			TCCTACCTTGCTA	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.240+1G>A	1.37:g.8930511C>T		85.0	0.0		54.0	4.0	NM_001428	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Silent	SNP	ENST00000234590.4	37	CCDS97.1																																																																																			.		0.458	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428	Silent
EPHA10	284656	hgsc.bcm.edu;bcgsc.ca	37	1	38186511	38186511	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:38186511T>C	ENST00000373048.4	-	12	2151	c.2152A>G	c.(2152-2154)Acc>Gcc	p.T718A	EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.T718A|EPHA10_ENST00000330210.7_Missense_Mutation_p.T213A|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	718	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATCATCAAGGTGCTTCCTGTG	0.582																																					p.T718A		.											.	EPHA10	1246	0			c.A2152G						.						72.0	80.0	77.0					1																	38186511		2047	4189	6236	SO:0001583	missense	284656	exon12			TCAAGGTGCTTCC	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2152A>G	1.37:g.38186511T>C	ENSP00000362139:p.Thr718Ala	94.0	0.0		84.0	5.0	NM_001099439	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.947019	0.34377	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	D;D;D	0.82255	-1.59;-1.59;-1.59	4.57	0.998	0.19857	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.373991	0.16770	N	0.200224	T	0.72382	0.3453	N	0.13327	0.33	0.80722	D	1	B	0.21381	0.055	B	0.29942	0.109	T	0.64613	-0.6366	10	0.66056	D	0.02	.	14.1443	0.65339	0.0:0.0:0.695:0.305	.	718	Q5JZY3	EPHAA_HUMAN	A	213;718;718	ENSP00000330379:T213A;ENSP00000397746:T718A;ENSP00000362139:T718A	ENSP00000330379:T213A	T	-	1	0	EPHA10	37959098	1.000000	0.71417	0.948000	0.38648	0.651000	0.38670	1.168000	0.31859	-0.003000	0.14444	-0.435000	0.05868	ACC	.		0.582	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641	
EXTL3	2137	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	28574774	28574774	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr8:28574774T>C	ENST00000220562.4	+	3	2100	c.1198T>C	c.(1198-1200)Tgc>Cgc	p.C400R	EXTL3_ENST00000523149.1_Missense_Mutation_p.C16R|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	400					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GGAATTCACCTGCAAAAACCA	0.602																																					p.C400R		.											.	EXTL3	92	0			c.T1198C						.						59.0	46.0	50.0					8																	28574774		2203	4300	6503	SO:0001583	missense	2137	exon3			TTCACCTGCAAAA	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1198T>C	8.37:g.28574774T>C	ENSP00000220562:p.Cys400Arg	88.0	0.0		103.0	43.0	NM_001440	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.571327	0.45798	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.98192	-4.78;-4.1	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.98635	0.9543	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99751	1.1018	10	0.59425	D	0.04	-27.8587	15.6016	0.76628	0.0:0.0:0.0:1.0	.	400	O43909	EXTL3_HUMAN	R	16;400	ENSP00000428691:C16R;ENSP00000220562:C400R	ENSP00000220562:C400R	C	+	1	0	EXTL3	28630693	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	7.868000	0.87116	2.258000	0.74832	0.533000	0.62120	TGC	.		0.602	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440	
FAM180A	389558	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	135421867	135421867	+	Missense_Mutation	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr7:135421867C>T	ENST00000338588.3	-	2	422	c.157G>A	c.(157-159)Gag>Aag	p.E53K	FAM180A_ENST00000415751.1_Missense_Mutation_p.E53K|FAM180A_ENST00000435869.1_5'UTR	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	53						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						AGCTCCACCTCCTCCAGGGAG	0.522																																					p.E53K		.											.	FAM180A	92	0			c.G157A						.						75.0	62.0	66.0					7																	135421867		2203	4300	6503	SO:0001583	missense	389558	exon2			CCACCTCCTCCAG	AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.157G>A	7.37:g.135421867C>T	ENSP00000342336:p.Glu53Lys	124.0	0.0		75.0	38.0	NM_205855	B2RP85	Missense_Mutation	SNP	ENST00000338588.3	37	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811132	0.90707	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.33654	1.4;1.4	5.02	5.02	0.67125	.	0.258207	0.43919	N	0.000511	T	0.40694	0.1127	M	0.61703	1.905	0.54753	D	0.999983	P	0.43094	0.799	B	0.42214	0.38	T	0.30031	-0.9992	10	0.38643	T	0.18	-8.6974	16.1988	0.82053	0.0:1.0:0.0:0.0	.	53	Q6UWF9	F180A_HUMAN	K	53	ENSP00000342336:E53K;ENSP00000395467:E53K	ENSP00000342336:E53K	E	-	1	0	FAM180A	135072407	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	5.860000	0.69546	2.505000	0.84491	0.455000	0.32223	GAG	.		0.522	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855	
FAM184B	27146	hgsc.bcm.edu;bcgsc.ca	37	4	17641002	17641002	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr4:17641002T>C	ENST00000265018.3	-	14	2749	c.2537A>G	c.(2536-2538)cAg>cGg	p.Q846R		NM_015688.1	NP_056503.1	Q9ULE4	F184B_HUMAN	family with sequence similarity 184, member B	846										NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						CTGGGCTTGCTGAGTCTCCTC	0.622																																					p.Q846R		.											.	FAM184B	23	0			c.A2537G						.						29.0	31.0	30.0					4																	17641002		692	1591	2283	SO:0001583	missense	27146	exon14			GCTTGCTGAGTCT		CCDS47033.1	4p16	2009-04-22			ENSG00000047662	ENSG00000047662			29235	protein-coding gene	gene with protein product						10574462	Standard	NM_015688		Approved	KIAA1276	uc003gpm.4	Q9ULE4	OTTHUMG00000160287	ENST00000265018.3:c.2537A>G	4.37:g.17641002T>C	ENSP00000265018:p.Gln846Arg	105.0	0.0		85.0	4.0	NM_015688		Missense_Mutation	SNP	ENST00000265018.3	37	CCDS47033.1	.	.	.	.	.	.	.	.	.	.	T	4.863	0.160419	0.09287	.	.	ENSG00000047662	ENST00000265018	T	0.30714	1.52	5.02	3.78	0.43462	.	0.301359	0.32093	N	0.006581	T	0.27967	0.0689	L	0.29908	0.895	0.26459	N	0.975473	D	0.57257	0.979	P	0.54140	0.743	T	0.06588	-1.0818	10	0.19590	T	0.45	-28.5006	6.9356	0.24464	0.3188:0.0:0.0:0.6812	.	846	Q9ULE4	F184B_HUMAN	R	846	ENSP00000265018:Q846R	ENSP00000265018:Q846R	Q	-	2	0	FAM184B	17250100	0.997000	0.39634	0.995000	0.50966	0.248000	0.25809	0.969000	0.29370	1.897000	0.54924	0.402000	0.26972	CAG	.		0.622	FAM184B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360137.1	NM_015688	
FAM47A	158724	broad.mit.edu;bcgsc.ca	37	X	34148612	34148612	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chrX:34148612A>G	ENST00000346193.3	-	1	1835	c.1784T>C	c.(1783-1785)gTt>gCt	p.V595A		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	595										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGAGTCAGAAACGCACTCTTT	0.453																																					p.V595A		.											.	FAM47A	134	0			c.T1784C						.						99.0	90.0	93.0					X																	34148612		2152	4259	6411	SO:0001583	missense	158724	exon1			TCAGAAACGCACT	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1784T>C	X.37:g.34148612A>G	ENSP00000345029:p.Val595Ala	113.0	1.0		147.0	9.0	NM_203408	A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	a	2.927	-0.221797	0.06061	.	.	ENSG00000185448	ENST00000346193	T	0.40225	1.04	1.23	-2.45	0.06481	.	.	.	.	.	T	0.27697	0.0681	L	0.39898	1.24	0.09310	N	1	P	0.36837	0.571	B	0.41917	0.37	T	0.25502	-1.0130	9	0.09590	T	0.72	.	2.232	0.03999	0.3793:0.0:0.3812:0.2395	.	595	Q5JRC9	FA47A_HUMAN	A	595	ENSP00000345029:V595A	ENSP00000345029:V595A	V	-	2	0	FAM47A	34058533	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.693000	0.05121	-1.391000	0.02085	-1.521000	0.00933	GTT	.		0.453	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
FAM71D	161142	ucsc.edu;mdanderson.org	37	14	67671395	67671395	+	3'UTR	SNP	G	G	A	rs546523990		TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr14:67671395G>A	ENST00000556046.1	+	0	1042							Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D							cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		TTTCTCAATGGGTGGCCCTCA	0.473																																					p.W167X		.											.	FAM71D	23	0			c.G501A						.						92.0	79.0	83.0					14																	67671395		2203	4300	6503	SO:0001624	3_prime_UTR_variant	161142	exon5			TCAATGGGTGGCC		CCDS9778.1	14q23.3	2007-11-20	2007-11-20	2007-11-20		ENSG00000172717			20101	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 54"""	C14orf54			Standard	NM_173526		Approved		uc001xja.2	Q8N9W8		ENST00000556046.1:c.*557G>A	14.37:g.67671395G>A		270.0	0.0		228.0	86.0	NM_173526	Q86VN4	Nonsense_Mutation	SNP	ENST00000556046.1	37																																																																																				.		0.473	FAM71D-009	KNOWN	not_organism_supported|basic|appris_candidate	nonsense_mediated_decay	protein_coding	OTTHUMT00000412390.1	NM_173526	
FAM89A	375061	ucsc.edu;bcgsc.ca	37	1	231155652	231155652	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:231155652A>G	ENST00000366654.4	-	2	546	c.512T>C	c.(511-513)gTc>gCc	p.V171A	FAM89A_ENST00000494111.1_5'UTR|MIR1182_ENST00000408363.1_RNA	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	171										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GAGGGAGGAGACAGGCAGTGA	0.572																																					p.V171A		.											.	FAM89A	90	0			c.T512C						.						65.0	62.0	63.0					1																	231155652		2203	4300	6503	SO:0001583	missense	375061	exon2			GAGGAGACAGGCA	BC009447	CCDS1590.1	1q42.2	2008-02-05	2005-09-13	2005-09-13	ENSG00000182118	ENSG00000182118			25057	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 153"""	C1orf153		12477932	Standard	NM_198552		Approved	MGC15887	uc001hui.2	Q96GI7	OTTHUMG00000037960	ENST00000366654.4:c.512T>C	1.37:g.231155652A>G	ENSP00000355614:p.Val171Ala	77.0	0.0		43.0	4.0	NM_198552		Missense_Mutation	SNP	ENST00000366654.4	37	CCDS1590.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.993739	0.35131	.	.	ENSG00000182118	ENST00000366654	.	.	.	5.67	-3.88	0.04205	.	1.516080	0.03925	N	0.284200	T	0.28995	0.0720	L	0.40543	1.245	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.10706	-1.0618	9	0.23891	T	0.37	-0.1112	3.9995	0.09574	0.4291:0.104:0.3659:0.101	.	171	Q96GI7	FA89A_HUMAN	A	171	.	ENSP00000355614:V171A	V	-	2	0	FAM89A	229222275	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.070000	0.14573	-0.655000	0.05387	-0.288000	0.09946	GTC	.		0.572	FAM89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092652.1	NM_198552	
FAT1	2195	hgsc.bcm.edu;bcgsc.ca	37	4	187541014	187541014	+	Silent	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr4:187541014C>T	ENST00000441802.2	-	10	6935	c.6726G>A	c.(6724-6726)ctG>ctA	p.L2242L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2242	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCTCAAAGTCCAGAGGAGCTA	0.488										HNSCC(5;0.00058)																											p.L2242L	Colon(197;1040 2055 4143 4984 49344)	.											.	FAT1	34	0			c.G6726A						.						145.0	151.0	149.0					4																	187541014		2037	4215	6252	SO:0001819	synonymous_variant	2195	exon10			AAAGTCCAGAGGA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6726G>A	4.37:g.187541014C>T		168.0	0.0		76.0	4.0	NM_005245		Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																			.		0.488	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FBXW4	6468	ucsc.edu;bcgsc.ca	37	10	103436144	103436144	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr10:103436144T>C	ENST00000331272.7	-	2	928	c.310A>G	c.(310-312)Aga>Gga	p.R104G		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	104					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		CGCCCCAGTCTCCAGTTCTGA	0.473																																					p.R104G		.											.	FBXW4	226	0			c.A310G						.						179.0	180.0	180.0					10																	103436144		2203	4300	6503	SO:0001583	missense	6468	exon2			CCAGTCTCCAGTT	AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.310A>G	10.37:g.103436144T>C	ENSP00000359149:p.Arg104Gly	62.0	0.0		45.0	4.0	NM_022039	Q5SVS1|Q96IM6	Missense_Mutation	SNP	ENST00000331272.7	37	CCDS31271.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.666794	0.47677	.	.	ENSG00000107829	ENST00000331272;ENST00000389046;ENST00000457105;ENST00000431477	T	0.75821	-0.97	5.32	4.17	0.49024	F-box domain, Skp2-like (1);	0.554175	0.21383	N	0.075432	T	0.59004	0.2162	N	0.24115	0.695	0.39625	D	0.970082	B	0.31193	0.312	B	0.24394	0.053	T	0.57452	-0.7809	10	0.44086	T	0.13	-6.1856	12.077	0.53649	0.0:0.0:0.1494:0.8506	.	104	P57775	FBXW4_HUMAN	G	104;104;17;60	ENSP00000359149:R104G	ENSP00000359149:R104G	R	-	1	2	FBXW4	103426134	0.992000	0.36948	0.999000	0.59377	0.995000	0.86356	2.263000	0.43293	0.833000	0.34828	0.482000	0.46254	AGA	.		0.473	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049979.2	NM_022039	
FGD5	152273	hgsc.bcm.edu;bcgsc.ca	37	3	14862587	14862587	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr3:14862587A>G	ENST00000285046.5	+	1	2119	c.2009A>G	c.(2008-2010)cAt>cGt	p.H670R	FGD5_ENST00000543601.1_Missense_Mutation_p.H429R	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	670					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AACAAATTGCATGTGGATGTG	0.512																																					p.H670R		.											.	FGD5	231	0			c.A2009G						.						79.0	78.0	78.0					3																	14862587		1976	4174	6150	SO:0001583	missense	152273	exon1			AATTGCATGTGGA	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2009A>G	3.37:g.14862587A>G	ENSP00000285046:p.His670Arg	148.0	0.0		123.0	5.0	NM_152536	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	A	4.077	0.012113	0.07912	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.76448	-1.02;-0.83	5.32	4.15	0.48705	.	0.000000	0.64402	D	0.000013	T	0.68513	0.3009	L	0.55481	1.735	0.23611	N	0.99729	P;P	0.40834	0.553;0.73	B;B	0.32533	0.109;0.147	T	0.59085	-0.7520	10	0.36615	T	0.2	-24.7629	11.6535	0.51304	0.8671:0.0:0.0:0.1329	.	429;670	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	R	670;429	ENSP00000285046:H670R;ENSP00000445949:H429R	ENSP00000285046:H670R	H	+	2	0	FGD5	14837591	0.969000	0.33509	0.054000	0.19295	0.001000	0.01503	3.642000	0.54367	0.842000	0.35045	-0.327000	0.08410	CAT	.		0.512	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
FGF6	2251	ucsc.edu;bcgsc.ca	37	12	4554699	4554699	+	Missense_Mutation	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr12:4554699C>T	ENST00000228837.2	-	1	81	c.38G>A	c.(37-39)cGg>cAg	p.R13Q		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	13					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TCCTGCTCCCCGGGACATAGT	0.582																																					p.R13Q		.											.	FGF6	659	0			c.G38A						.						54.0	62.0	60.0					12																	4554699		2203	4300	6503	SO:0001583	missense	2251	exon1			GCTCCCCGGGACA	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.38G>A	12.37:g.4554699C>T	ENSP00000228837:p.Arg13Gln	24.0	0.0		29.0	4.0	NM_020996	Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894135	0.33442	.	.	ENSG00000111241	ENST00000228837	T	0.74209	-0.82	5.0	-3.61	0.04556	.	0.487944	0.25272	N	0.031869	T	0.35624	0.0938	N	0.02011	-0.69	0.24705	N	0.993237	B	0.02656	0.0	B	0.01281	0.0	T	0.26395	-1.0104	10	0.24483	T	0.36	.	2.277	0.04104	0.1077:0.3174:0.316:0.2589	.	13	P10767	FGF6_HUMAN	Q	13	ENSP00000228837:R13Q	ENSP00000228837:R13Q	R	-	2	0	FGF6	4424960	0.982000	0.34865	0.992000	0.48379	0.992000	0.81027	0.233000	0.17911	-0.302000	0.08869	-0.254000	0.11334	CGG	.		0.582	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996	
FIGN	55137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	164466794	164466794	+	Silent	SNP	C	C	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:164466794C>A	ENST00000333129.3	-	3	1862	c.1548G>T	c.(1546-1548)acG>acT	p.T516T	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	516					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GAGGTAAGGCCGTCAGTCCAC	0.507																																					p.T516T		.											.	FIGN	156	0			c.G1548T						.						96.0	90.0	92.0					2																	164466794		1995	4167	6162	SO:0001819	synonymous_variant	55137	exon3			TAAGGCCGTCAGT	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1548G>T	2.37:g.164466794C>A		175.0	0.0		148.0	55.0	NM_018086	B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	CCDS2221.2																																																																																			.		0.507	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086	
FNDC3B	64778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	171965470	171965470	+	Missense_Mutation	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr3:171965470C>T	ENST00000336824.4	+	5	511	c.412C>T	c.(412-414)Cac>Tac	p.H138Y	FNDC3B_ENST00000416957.1_Missense_Mutation_p.H138Y|FNDC3B_ENST00000415807.2_Missense_Mutation_p.H138Y	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	138					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.H138Y(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TCATAACTCACACACGGCTTA	0.502																																					p.H138Y		.											.	FNDC3B	155	1	Substitution - Missense(1)	lung(1)	c.C412T						.						248.0	212.0	224.0					3																	171965470		2203	4300	6503	SO:0001583	missense	64778	exon5			AACTCACACACGG	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.412C>T	3.37:g.171965470C>T	ENSP00000338523:p.His138Tyr	289.0	0.0		263.0	101.0	NM_001135095	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082043	0.94050	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957;ENST00000443501	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.58	5.58	0.84498	.	0.046445	0.85682	D	0.000000	T	0.53514	0.1801	L	0.57536	1.79	0.80722	D	1	D;B	0.67145	0.996;0.409	D;B	0.78314	0.991;0.119	T	0.41466	-0.9507	10	0.34782	T	0.22	-16.8634	19.5677	0.95401	0.0:1.0:0.0:0.0	.	138;138	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	Y	138;138;138;111	ENSP00000411242:H138Y;ENSP00000338523:H138Y;ENSP00000389094:H138Y;ENSP00000389064:H111Y	ENSP00000338523:H138Y	H	+	1	0	FNDC3B	173448164	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.339000	0.65953	2.617000	0.88574	0.655000	0.94253	CAC	.		0.502	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763	
FTMT	94033	hgsc.bcm.edu;bcgsc.ca	37	5	121187671	121187671	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr5:121187671T>C	ENST00000321339.1	+	1	22	c.13T>C	c.(13-15)Ttc>Ctc	p.F5L		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	5					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GCTGTCCTGCTTCAGGCTCCT	0.692																																					p.F5L		.											.	FTMT	91	0			c.T13C						.						31.0	35.0	34.0					5																	121187671		2201	4297	6498	SO:0001583	missense	94033	exon1			TCCTGCTTCAGGC	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.13T>C	5.37:g.121187671T>C	ENSP00000313691:p.Phe5Leu	60.0	0.0		76.0	4.0	NM_177478		Missense_Mutation	SNP	ENST00000321339.1	37	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.282230	0.40394	.	.	ENSG00000181867	ENST00000321339	T	0.67865	-0.29	3.1	1.94	0.25998	.	.	.	.	.	T	0.46889	0.1416	L	0.27053	0.805	0.09310	N	1	B	0.29037	0.231	B	0.19391	0.025	T	0.32771	-0.9894	9	0.44086	T	0.13	.	4.7468	0.13042	0.0:0.1469:0.0:0.8531	.	5	Q8N4E7	FTMT_HUMAN	L	5	ENSP00000313691:F5L	ENSP00000313691:F5L	F	+	1	0	FTMT	121215570	0.001000	0.12720	0.017000	0.16124	0.113000	0.19764	0.358000	0.20216	0.577000	0.29470	0.528000	0.53228	TTC	.		0.692	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478	
GAB1	2549	hgsc.bcm.edu;bcgsc.ca	37	4	144378870	144378870	+	Intron	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr4:144378870T>C	ENST00000262994.4	+	7	1887				GAB1_ENST00000262995.4_Silent_p.G541G|GAB1_ENST00000505913.1_Intron	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1						activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AACCCCATGGTTTAGAGCGAA	0.348																																					p.G541G		.											.	GAB1	1146	0			c.T1623C						.						53.0	48.0	50.0					4																	144378870		2203	4300	6503	SO:0001627	intron_variant	2549	exon7			CCATGGTTTAGAG	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1586-1668T>C	4.37:g.144378870T>C		107.0	0.0		94.0	5.0	NM_207123	A8K152|Q4W5G2|Q6P1W2	Silent	SNP	ENST00000262994.4	37	CCDS3759.1																																																																																			.		0.348	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039	
GABRG2	2566	hgsc.bcm.edu;bcgsc.ca	37	5	161576259	161576259	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr5:161576259delG	ENST00000361925.4	+	8	1288	c.1068delG	c.(1066-1068)ttgfs	p.L356fs	GABRG2_ENST00000393933.4_Frame_Shift_Del_p.L261fs|GABRG2_ENST00000356592.3_Frame_Shift_Del_p.L356fs|GABRG2_ENST00000414552.2_Frame_Shift_Del_p.L396fs			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	356					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	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)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|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)	ATGGCACCTTGCATTATTTTG	0.408																																					p.L396fs		.											.	GABRG2	95	0			c.1188delG						.						192.0	162.0	172.0					5																	161576259		2203	4300	6503	SO:0001589	frameshift_variant	2566	exon9			CACCTTGCATTAT		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1068delG	5.37:g.161576259delG	ENSP00000354651:p.Leu356fs	822.0	0.0		924.0	222.0	NM_198903	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Frame_Shift_Del	DEL	ENST00000361925.4	37	CCDS4358.1																																																																																			.		0.408	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
GABRG2	2566	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	161580269	161580269	+	Silent	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr5:161580269G>A	ENST00000361925.4	+	9	1519	c.1299G>A	c.(1297-1299)agG>agA	p.R433R	GABRG2_ENST00000393933.4_Silent_p.R338R|GABRG2_ENST00000356592.3_Silent_p.R441R|GABRG2_ENST00000414552.2_Silent_p.R481R			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	433	Interaction with GABARAP. {ECO:0000255}.				adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	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)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|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)	GACATGGGAGGATACATATCC	0.488																																					p.R481R		.											.	GABRG2	95	0			c.G1443A						.						252.0	246.0	248.0					5																	161580269		2203	4300	6503	SO:0001819	synonymous_variant	2566	exon11			TGGGAGGATACAT		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1299G>A	5.37:g.161580269G>A		589.0	0.0		718.0	200.0	NM_198903	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	CCDS4358.1																																																																																			.		0.488	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
GALNTL6	442117	hgsc.bcm.edu;bcgsc.ca	37	4	173730521	173730521	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr4:173730521A>G	ENST00000506823.1	+	6	1220	c.563A>G	c.(562-564)aAg>aGg	p.K188R	GALNTL6_ENST00000508122.1_Missense_Mutation_p.K171R	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	188	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GAACACCTGAAGGATAAATTG	0.433																																					p.K188R		.											.	GALNTL6	137	0			c.A563G						.						92.0	90.0	91.0					4																	173730521		2203	4300	6503	SO:0001583	missense	442117	exon6			ACCTGAAGGATAA		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.563A>G	4.37:g.173730521A>G	ENSP00000423313:p.Lys188Arg	171.0	0.0		97.0	4.0	NM_001034845	Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359869	0.24598	.	.	ENSG00000174473	ENST00000506823;ENST00000404275;ENST00000508122	T;T	0.61859	0.07;0.07	5.45	5.45	0.79879	Glycosyl transferase, family 2 (1);	0.160836	0.42294	N	0.000734	T	0.53642	0.1809	M	0.64080	1.96	0.53688	D	0.999972	B	0.12013	0.005	B	0.12156	0.007	T	0.54234	-0.8324	10	0.52906	T	0.07	.	10.2026	0.43094	0.9255:0.0:0.0745:0.0	.	188	Q49A17	GLTL6_HUMAN	R	188;188;171	ENSP00000423313:K188R;ENSP00000423827:K171R	ENSP00000385382:K188R	K	+	2	0	GALNTL6	173967096	1.000000	0.71417	0.997000	0.53966	0.138000	0.21146	6.279000	0.72620	2.196000	0.70406	0.402000	0.26972	AAG	.		0.433	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845	
GHSR	2693	hgsc.bcm.edu;bcgsc.ca	37	3	172163000	172163000	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr3:172163000A>G	ENST00000241256.2	-	2	1094	c.1052T>C	c.(1051-1053)cTg>cCg	p.L351P		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	351					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TTCATCTTTCAGAGTGGAGAG	0.463																																					p.L351P	Esophageal Squamous(93;641 1401 20883 29581 34638)	.											.	GHSR	501	0			c.T1052C						.						87.0	98.0	94.0					3																	172163000		2203	4300	6503	SO:0001583	missense	2693	exon2			TCTTTCAGAGTGG	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.1052T>C	3.37:g.172163000A>G	ENSP00000241256:p.Leu351Pro	84.0	0.0		78.0	4.0	NM_198407	Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.989569	0.35131	.	.	ENSG00000121853	ENST00000241256	T	0.69175	-0.38	5.91	5.91	0.95273	.	0.515542	0.19252	N	0.118895	T	0.48205	0.1487	N	0.22421	0.69	0.80722	D	1	B	0.31193	0.312	B	0.31290	0.127	T	0.49652	-0.8917	10	0.34782	T	0.22	-8.276	4.4458	0.11597	0.6547:0.1727:0.1726:0.0	.	351	Q92847	GHSR_HUMAN	P	351	ENSP00000241256:L351P	ENSP00000241256:L351P	L	-	2	0	GHSR	173645694	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	3.789000	0.55454	2.252000	0.74401	0.528000	0.53228	CTG	.		0.463	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122	
GPR148	344561	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	131487061	131487061	+	Missense_Mutation	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:131487061G>A	ENST00000309926.4	+	1	419	c.337G>A	c.(337-339)Ggc>Agc	p.G113S		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CAGCCTGGGTGGCTGGGAGCT	0.622																																					p.G113S		.											.	GPR148	91	0			c.G337A						.						53.0	58.0	56.0					2																	131487061		2203	4300	6503	SO:0001583	missense	344561	exon1			CTGGGTGGCTGGG	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.337G>A	2.37:g.131487061G>A	ENSP00000308908:p.Gly113Ser	166.0	0.0		140.0	7.0	NM_207364	Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	3.436	-0.115181	0.06881	.	.	ENSG00000173302	ENST00000309926	T	0.36340	1.26	3.15	-0.467	0.12150	GPCR, rhodopsin-like superfamily (1);	0.226724	0.26995	N	0.021450	T	0.17874	0.0429	N	0.19112	0.55	0.09310	N	1	B	0.23937	0.094	B	0.31614	0.133	T	0.13845	-1.0494	10	0.22109	T	0.4	-0.2022	2.1136	0.03708	0.1305:0.3404:0.3565:0.1726	.	113	Q8TDV2	GP148_HUMAN	S	113	ENSP00000308908:G113S	ENSP00000308908:G113S	G	+	1	0	GPR148	131203531	0.006000	0.16342	0.532000	0.27989	0.166000	0.22503	0.010000	0.13242	-0.176000	0.10707	0.462000	0.41574	GGC	.		0.622	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092	
GPT	2875	broad.mit.edu;bcgsc.ca;mdanderson.org	37	8	145730179	145730179	+	Missense_Mutation	SNP	A	A	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr8:145730179A>T	ENST00000528431.1	+	4	435	c.278A>T	c.(277-279)gAt>gTt	p.D93V	GPT_ENST00000394955.2_Missense_Mutation_p.D93V			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	93					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	GTTAACCCTGATCTTCTGAGC	0.652																																					p.D93V		.											.	GPT	91	0			c.A278T						.						179.0	201.0	193.0					8																	145730179		2203	4300	6503	SO:0001583	missense	2875	exon3			ACCCTGATCTTCT		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.278A>T	8.37:g.145730179A>T	ENSP00000433586:p.Asp93Val	175.0	0.0		229.0	22.0	NM_005309	B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	ENST00000528431.1	37	CCDS6430.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.531310	0.27387	.	.	ENSG00000167701	ENST00000528431;ENST00000394955	D;D	0.90004	-2.6;-2.6	5.23	4.04	0.47022	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.359591	0.31145	N	0.008172	D	0.86079	0.5847	L	0.58583	1.82	0.49213	D	0.999769	B;B	0.29341	0.242;0.091	B;B	0.32583	0.101;0.148	T	0.81064	-0.1102	10	0.35671	T	0.21	-8.676	10.3331	0.43833	0.8343:0.1657:0.0:0.0	.	93;93	B4DPT5;P24298	.;ALAT1_HUMAN	V	93	ENSP00000433586:D93V;ENSP00000378408:D93V	ENSP00000378408:D93V	D	+	2	0	GPT	145700987	0.434000	0.25570	0.551000	0.28230	0.087000	0.18053	1.813000	0.38962	0.787000	0.33731	0.459000	0.35465	GAT	.		0.652	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1		
GRID2	2895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	94006348	94006348	+	Silent	SNP	T	T	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr4:94006348T>G	ENST00000282020.4	+	3	705	c.447T>G	c.(445-447)ccT>ccG	p.P149P	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	149					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TTCGCCCACCTGTCTACTTGC	0.458																																					p.P149P		.											.	GRID2	159	0			c.T447G						.						107.0	103.0	105.0					4																	94006348		2203	4300	6503	SO:0001819	synonymous_variant	2895	exon3			CCCACCTGTCTAC	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.447T>G	4.37:g.94006348T>G		193.0	0.0		136.0	53.0	NM_001510	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	CCDS3637.1																																																																																			.		0.458	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		
GRM1	2911	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	146720308	146720308	+	Silent	SNP	A	A	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr6:146720308A>T	ENST00000282753.1	+	7	2368	c.2133A>T	c.(2131-2133)tcA>tcT	p.S711S	GRM1_ENST00000392299.2_Silent_p.S711S|GRM1_ENST00000355289.4_Silent_p.S711S|GRM1_ENST00000507907.1_Silent_p.S711S|GRM1_ENST00000492807.2_Silent_p.S711S|GRM1_ENST00000361719.2_Silent_p.S711S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	711					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TCATTGCCTCAATTCTGATTA	0.502																																					p.S711S		.											.	GRM1	1080	0			c.A2133T						.						117.0	112.0	114.0					6																	146720308		2203	4300	6503	SO:0001819	synonymous_variant	2911	exon8			TGCCTCAATTCTG	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2133A>T	6.37:g.146720308A>T		207.0	0.0		194.0	72.0	NM_000838	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	CCDS5209.1																																																																																			.		0.502	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
GSDMD	79792	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	144644902	144644902	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr8:144644902T>C	ENST00000526406.1	+	14	2166	c.1283T>C	c.(1282-1284)cTg>cCg	p.L428P	GSDMD_ENST00000262580.4_Missense_Mutation_p.L428P|GSDMD_ENST00000533063.1_Missense_Mutation_p.L476P	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	428				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861). {ECO:0000305}.	cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						CCCGGGCTCCTGGGGAACAGC	0.682																																					p.L428P		.											.	GSDMD	90	0			c.T1283C						.						24.0	24.0	24.0					8																	144644902		2188	4291	6479	SO:0001583	missense	79792	exon14			GGCTCCTGGGGAA	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.1283T>C	8.37:g.144644902T>C	ENSP00000433209:p.Leu428Pro	95.0	1.0		114.0	81.0	NM_001166237	D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	CCDS34956.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.07|14.07	2.426363|2.426363	0.43020|0.43020	.|.	.|.	ENSG00000104518|ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580|ENST00000525208	T;T;T|.	0.45668|.	0.89;0.89;0.89|.	4.41|4.41	2.0|2.0	0.26442|0.26442	.|.	0.774407|.	0.11595|.	N|.	0.548294|.	T|T	0.46268|0.46268	0.1384|0.1384	M|M	0.69823|0.69823	2.125|2.125	0.23411|0.23411	N|N	0.997736|0.997736	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.75020|.	0.985;0.985;0.982|.	T|T	0.35943|0.35943	-0.9768|-0.9768	10|5	0.72032|.	D|.	0.01|.	-4.3103|-4.3103	6.1123|6.1123	0.20108|0.20108	0.0:0.2191:0.0:0.7809|0.0:0.2191:0.0:0.7809	.|.	428;428;476|.	A8K702;P57764;G3V1A6|.	.;GSDMD_HUMAN;.|.	P|R	428;476;428|121	ENSP00000433209:L428P;ENSP00000433958:L476P;ENSP00000262580:L428P|.	ENSP00000262580:L428P|.	L|W	+|+	2|1	0|0	GSDMD|GSDMD	144716045|144716045	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.004000|0.004000	0.04260|0.04260	0.077000|0.077000	0.14738|0.14738	0.315000|0.315000	0.23110|0.23110	0.472000|0.472000	0.43445|0.43445	CTG|TGG	.		0.682	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736	
GSDMD	79792	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	144644913	144644913	+	Missense_Mutation	SNP	T	T	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr8:144644913T>A	ENST00000526406.1	+	14	2177	c.1294T>A	c.(1294-1296)Tgg>Agg	p.W432R	GSDMD_ENST00000262580.4_Missense_Mutation_p.W432R|GSDMD_ENST00000533063.1_Missense_Mutation_p.W480R	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	432				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861). {ECO:0000305}.	cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GGGGAACAGCTGGGGCGAAGG	0.706																																					p.W432R		.											.	GSDMD	90	0			c.T1294A						.						28.0	26.0	27.0					8																	144644913		2187	4289	6476	SO:0001583	missense	79792	exon14			AACAGCTGGGGCG	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.1294T>A	8.37:g.144644913T>A	ENSP00000433209:p.Trp432Arg	113.0	0.0		131.0	92.0	NM_001166237	D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	T	9.485	1.099169	0.20552	.	.	ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580	T;T;T	0.21031	2.03;2.03;2.03	4.24	4.24	0.50183	.	0.406586	0.23498	N	0.047532	T	0.35711	0.0941	M	0.65320	2	0.32239	N	0.573022	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.22312	-1.0220	10	0.07990	T	0.79	-22.5943	10.0058	0.41957	0.0:0.0:0.0:1.0	.	432;432;480	A8K702;P57764;G3V1A6	.;GSDMD_HUMAN;.	R	432;480;432	ENSP00000433209:W432R;ENSP00000433958:W480R;ENSP00000262580:W432R	ENSP00000262580:W432R	W	+	1	0	GSDMD	144716056	0.911000	0.30947	0.914000	0.36105	0.011000	0.07611	1.262000	0.32992	2.143000	0.66587	0.523000	0.50628	TGG	.		0.706	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736	
HAUS6	54801	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	19070270	19070270	+	Silent	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr9:19070270A>G	ENST00000380502.3	-	12	1790	c.1323T>C	c.(1321-1323)aaT>aaC	p.N441N	HAUS6_ENST00000380496.1_Silent_p.N305N	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	441					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCTGCAACCATTTTCTTGGT	0.308																																					p.N441N		.											.	HAUS6	92	0			c.T1323C						.						70.0	63.0	65.0					9																	19070270		2203	4300	6503	SO:0001819	synonymous_variant	54801	exon12			GCAACCATTTTCT	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1323T>C	9.37:g.19070270A>G		607.0	2.0		482.0	175.0	NM_017645	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Silent	SNP	ENST00000380502.3	37	CCDS6489.1																																																																																			.		0.308	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645	
HDLBP	3069	broad.mit.edu;ucsc.edu	37	2	242174540	242174540	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:242174540T>C	ENST00000391975.1	-	23	3367	c.3140A>G	c.(3139-3141)gAc>gGc	p.D1047G	HDLBP_ENST00000427183.2_Missense_Mutation_p.D1014G|HDLBP_ENST00000310931.4_Missense_Mutation_p.D1047G|HDLBP_ENST00000391976.2_Missense_Mutation_p.D1047G	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1047	KH 12. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GCTCACCCGGTCCTCCTGCTC	0.612																																					p.D1047G		.											.	HDLBP	290	0			c.A3140G						.						48.0	42.0	44.0					2																	242174540		2203	4300	6503	SO:0001583	missense	3069	exon23			ACCCGGTCCTCCT		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3140A>G	2.37:g.242174540T>C	ENSP00000375836:p.Asp1047Gly	51.0	0.0		45.0	6.0	NM_005336	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	T	31	5.080828	0.94050	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.49	5.49	0.81192	.	0.044407	0.85682	D	0.000000	T	0.70395	0.3219	M	0.88775	2.98	0.80722	D	1	P;D	0.89917	0.877;1.0	P;D	0.91635	0.606;0.999	T	0.76963	-0.2764	10	0.72032	D	0.01	-45.8127	15.884	0.79226	0.0:0.0:0.0:1.0	.	1014;1047	E7EM71;Q00341	.;VIGLN_HUMAN	G	1047;1047;1047;1014	ENSP00000375836:D1047G;ENSP00000375837:D1047G;ENSP00000312042:D1047G;ENSP00000399139:D1014G	ENSP00000312042:D1047G	D	-	2	0	HDLBP	241823213	1.000000	0.71417	0.976000	0.42696	0.979000	0.70002	7.838000	0.86804	2.213000	0.71641	0.455000	0.32223	GAC	.		0.612	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346	
HEG1	57493	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	124720775	124720775	+	Missense_Mutation	SNP	C	C	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr3:124720775C>G	ENST00000311127.4	-	11	3505	c.3438G>C	c.(3436-3438)agG>agC	p.R1146S		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1146					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ATTTCTGCATCCTATCAGCCA	0.532																																					p.R1146S		.											.	HEG1	70	0			c.G3438C						.						74.0	72.0	73.0					3																	124720775		1998	4167	6165	SO:0001583	missense	57493	exon11			CTGCATCCTATCA	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.3438G>C	3.37:g.124720775C>G	ENSP00000311502:p.Arg1146Ser	247.0	1.0		241.0	77.0	NM_020733	Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	C	3.416	-0.119111	0.06838	.	.	ENSG00000173706	ENST00000311127;ENST00000487661	D;T	0.87571	-2.27;1.03	5.65	2.71	0.32032	.	0.449907	0.16423	U	0.215099	T	0.67988	0.2952	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.52786	-0.8529	10	0.11794	T	0.64	.	4.4394	0.11566	0.0:0.5047:0.2165:0.2788	.	1146	Q9ULI3	HEG1_HUMAN	S	1146;30	ENSP00000311502:R1146S;ENSP00000417648:R30S	ENSP00000311502:R1146S	R	-	3	2	HEG1	126203465	0.000000	0.05858	0.698000	0.30274	0.976000	0.68499	-0.243000	0.08915	0.938000	0.37419	0.655000	0.94253	AGG	.		0.532	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386	
HK2	3099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	75113635	75113635	+	Missense_Mutation	SNP	G	G	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:75113635G>T	ENST00000290573.2	+	15	2654	c.2054G>T	c.(2053-2055)tGc>tTc	p.C685F	HK2_ENST00000409174.1_Missense_Mutation_p.C657F	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	685	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGCAATGCCTGCTACATGGAG	0.587																																					p.C685F		.											.	HK2	252	0			c.G2054T						.						105.0	98.0	101.0					2																	75113635		2203	4300	6503	SO:0001583	missense	3099	exon15			ATGCCTGCTACAT		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2054G>T	2.37:g.75113635G>T	ENSP00000290573:p.Cys685Phe	143.0	0.0		129.0	50.0	NM_000189	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571500	0.86542	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.98701	-5.08;-5.08	5.49	5.49	0.81192	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99507	0.9824	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98130	1.0430	10	0.87932	D	0	-25.4229	16.9239	0.86170	0.0:0.0:1.0:0.0	.	685	P52789	HXK2_HUMAN	F	685;685;657	ENSP00000290573:C685F;ENSP00000387140:C657F	ENSP00000290573:C685F	C	+	2	0	HK2	74967143	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.584000	0.98220	2.865000	0.98341	0.655000	0.94253	TGC	.		0.587	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189	
HNRNPCL1	343069	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	12908011	12908011	+	Silent	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:12908011C>T	ENST00000317869.6	-	2	357	c.132G>A	c.(130-132)gcG>gcA	p.A44A		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	44	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A44A(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CAGAGCAGCCCGCAATTTTGC	0.478																																					p.A44A		.											.	HNRNPCL1	68	1	Substitution - coding silent(1)	lung(1)	c.G132A						.						117.0	112.0	114.0					1																	12908011		2203	4300	6503	SO:0001819	synonymous_variant	343069	exon2			GCAGCCCGCAATT	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.132G>A	1.37:g.12908011C>T		495.0	0.0		301.0	60.0	NM_001013631	B2RP44	Silent	SNP	ENST00000317869.6	37	CCDS30591.1																																																																																			.		0.478	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631	
IAH1	285148	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	9628439	9628439	+	Missense_Mutation	SNP	T	T	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:9628439T>G	ENST00000497473.1	+	6	765	c.728T>G	c.(727-729)cTg>cGg	p.L243R	IAH1_ENST00000545602.1_Missense_Mutation_p.L130R|IAH1_ENST00000482918.1_Missense_Mutation_p.L130R|IAH1_ENST00000470914.1_Missense_Mutation_p.L130R	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	243					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTAAGTCTGCTGGGAGATGGA	0.448																																					p.L243R		.											.	IAH1	22	0			c.T728G						.						94.0	85.0	88.0					2																	9628439		1899	4123	6022	SO:0001583	missense	285148	exon6			GTCTGCTGGGAGA	BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.728T>G	2.37:g.9628439T>G	ENSP00000417580:p.Leu243Arg	162.0	1.0		146.0	57.0	NM_001039613	B4DMV3	Missense_Mutation	SNP	ENST00000497473.1	37	CCDS42651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.3|26.3	4.723131|4.723131	0.89298|0.89298	.|.	.|.	ENSG00000134330|ENSG00000134330	ENST00000482918;ENST00000497473;ENST00000470914;ENST00000545602|ENST00000481367	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62672|0.62672	0.2447|0.2447	L|L	0.48642|0.48642	1.525|1.525	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.55605|.	0.972|.	P|.	0.51415|.	0.669|.	T|T	0.59742|0.59742	-0.7397|-0.7397	9|5	0.87932|.	D|.	0|.	-16.7095|-16.7095	15.0551|15.0551	0.71908|0.71908	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	243|.	Q2TAA2|.	IAH1_HUMAN|.	R|G	130;243;130;130|223	.|.	ENSP00000419224:L130R|.	L|W	+|+	2|1	0|0	IAH1|IAH1	9545890|9545890	0.989000|0.989000	0.36119|0.36119	0.995000|0.995000	0.50966|0.50966	0.993000|0.993000	0.82548|0.82548	4.713000|4.713000	0.61895|0.61895	2.288000|2.288000	0.76882|0.76882	0.528000|0.528000	0.53228|0.53228	CTG|TGG	.		0.448	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353192.1	NM_001039613	
IQCC	55721	hgsc.bcm.edu;bcgsc.ca	37	1	32673299	32673299	+	Silent	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:32673299G>A	ENST00000291358.6	+	5	1038	c.1017G>A	c.(1015-1017)agG>agA	p.R339R	RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000537469.1_Silent_p.R419R|DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000373604.4_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	339										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGAAGTCCAGGACACAGCTGT	0.507																																					p.R419R		.											.	IQCC	94	0			c.G1257A						.						66.0	74.0	71.0					1																	32673299		2203	4300	6503	SO:0001819	synonymous_variant	55721	exon5			GTCCAGGACACAG	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1017G>A	1.37:g.32673299G>A		139.0	0.0		72.0	4.0	NM_001160042	F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Silent	SNP	ENST00000291358.6	37	CCDS355.1																																																																																			.		0.507	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134	
ITGA10	8515	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	145530929	145530929	+	Missense_Mutation	SNP	G	G	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:145530929G>T	ENST00000369304.3	+	7	836	c.661G>T	c.(661-663)Gat>Tat	p.D221Y	ITGA10_ENST00000538811.1_Missense_Mutation_p.D90Y|ITGA10_ENST00000539363.1_Missense_Mutation_p.D78Y	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	221	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCCCTGGGAGATTTCCGAAC	0.522																																					p.D221Y		.											.	ITGA10	231	0			c.G661T						.						102.0	98.0	99.0					1																	145530929		2203	4300	6503	SO:0001583	missense	8515	exon7			CTGGGAGATTTCC	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.661G>T	1.37:g.145530929G>T	ENSP00000358310:p.Asp221Tyr	175.0	0.0		482.0	23.0	NM_003637	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984862	0.74474	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	D;D;D	0.85013	-1.93;-1.93;-1.93	5.4	5.4	0.78164	von Willebrand factor, type A (3);	0.068341	0.56097	D	0.000039	D	0.90655	0.7069	M	0.81802	2.56	0.50171	D	0.999856	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.993;0.993;0.986;0.997	D	0.91702	0.5374	10	0.87932	D	0	.	12.4144	0.55486	0.0:0.1691:0.8308:0.0	.	187;90;78;221	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	Y	221;187;78;90	ENSP00000358310:D221Y;ENSP00000439894:D78Y;ENSP00000440011:D90Y	ENSP00000358310:D221Y	D	+	1	0	ITGA10	144242286	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.758000	0.62220	2.539000	0.85634	0.655000	0.94253	GAT	.		0.522	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637	
ITGAM	3684	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	31284710	31284710	+	Silent	SNP	C	C	T	rs372119875	byFrequency	TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr16:31284710C>T	ENST00000287497.8	+	8	804	c.729C>T	c.(727-729)aaC>aaT	p.N243N	ITGAM_ENST00000544665.3_Silent_p.N243N			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	243	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ACATCACCAACGGAGCCCGAA	0.428													C|||	2	0.000399361	0.0	0.0	5008	,	,		20462	0.0		0.0	False		,,,				2504	0.002				p.N243N		.											.	ITGAM	226	0			c.C729T						.	C	,	0,3852		0,0,1926	131.0	121.0	124.0		729,729	-9.9	0.0	16		124	1,8277		0,1,4138	no	coding-synonymous,coding-synonymous	ITGAM	NM_000632.3,NM_001145808.1	,	0,1,6064	TT,TC,CC		0.0121,0.0,0.0082	,	243/1153,243/1154	31284710	1,12129	1926	4139	6065	SO:0001819	synonymous_variant	3684	exon8			CACCAACGGAGCC	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.729C>T	16.37:g.31284710C>T		106.0	0.0		102.0	18.0	NM_000632	Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	CCDS45470.1																																																																																			.		0.428	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
JAK2	3717	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	5126358	5126358	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr9:5126358A>G	ENST00000381652.3	+	24	3697	c.3203A>G	c.(3202-3204)gAc>gGc	p.D1068G	JAK2_ENST00000544510.1_Missense_Mutation_p.D919G|JAK2_ENST00000487310.1_3'UTR|JAK2_ENST00000539801.1_Missense_Mutation_p.D1068G	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1068	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ATTGGCAATGACAAACAAGGA	0.333		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																												p.D1068G		.		Dom	yes		9	9p24	3717	Janus kinase 2		L	.	JAK2	75307	0			c.A3203G						.						128.0	120.0	123.0					9																	5126358		2203	4300	6503	SO:0001583	missense	3717	exon24	Familial Cancer Database		GCAATGACAAACA		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.3203A>G	9.37:g.5126358A>G	ENSP00000371067:p.Asp1068Gly	139.0	0.0		138.0	45.0	NM_004972	O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980982	0.53827	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.79454	-1.16;-1.16;-1.27	5.41	5.41	0.78517	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.046821	0.85682	D	0.000000	T	0.79131	0.4394	L	0.34521	1.04	0.80722	D	1	D	0.58620	0.983	P	0.58172	0.834	T	0.77289	-0.2643	10	0.30078	T	0.28	-17.5064	15.4354	0.75143	1.0:0.0:0.0:0.0	.	1068	O60674	JAK2_HUMAN	G	1068;1068;919	ENSP00000440387:D1068G;ENSP00000371067:D1068G;ENSP00000443103:D919G	ENSP00000371067:D1068G	D	+	2	0	JAK2	5116358	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	8.946000	0.92992	2.053000	0.61076	0.533000	0.62120	GAC	.		0.333	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
KCNB2	9312	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	73849371	73849371	+	Missense_Mutation	SNP	T	T	A	rs575721225		TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr8:73849371T>A	ENST00000523207.1	+	3	2369	c.1781T>A	c.(1780-1782)aTt>aAt	p.I594N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	594					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	ACCGAGGTCATTGTGGACATG	0.567																																					p.I594N		.											.	KCNB2	158	0			c.T1781A						.						70.0	68.0	69.0					8																	73849371		2203	4300	6503	SO:0001583	missense	9312	exon3			AGGTCATTGTGGA	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1781T>A	8.37:g.73849371T>A	ENSP00000430846:p.Ile594Asn	66.0	0.0		134.0	94.0	NM_004770	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.056530	0.55325	.	.	ENSG00000182674	ENST00000523207	T	0.26957	1.7	5.13	5.13	0.70059	.	1.041150	0.07672	N	0.935596	T	0.39886	0.1095	L	0.46157	1.445	0.36428	D	0.864714	P	0.51147	0.942	P	0.53360	0.724	T	0.13098	-1.0522	10	0.35671	T	0.21	.	15.0952	0.72229	0.0:0.0:0.0:1.0	.	594	Q92953	KCNB2_HUMAN	N	594	ENSP00000430846:I594N	ENSP00000430846:I594N	I	+	2	0	KCNB2	74011925	0.805000	0.28982	0.998000	0.56505	0.994000	0.84299	4.813000	0.62620	2.140000	0.66376	0.533000	0.62120	ATT	.		0.567	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
KHDC3L	154288	broad.mit.edu;ucsc.edu;mdanderson.org	37	6	74072866	74072866	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr6:74072866T>A	ENST00000370367.3	+	2	271	c.218T>A	c.(217-219)tTg>tAg	p.L73*		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	73	KH; atypical.						RNA binding (GO:0003723)										TCCCAAATCTTGATTCACGTG	0.582																																					p.L73X		.											.	.	.	0			c.T218A						.						134.0	117.0	122.0					6																	74072866		2203	4300	6503	SO:0001587	stop_gained	154288	exon2			AAATCTTGATTCA	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.218T>A	6.37:g.74072866T>A	ENSP00000359392:p.Leu73*	108.0	0.0		96.0	38.0	NM_001017361	B2RNW7	Nonsense_Mutation	SNP	ENST00000370367.3	37	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.915005	0.52546	.	.	ENSG00000203908	ENST00000370367	.	.	.	3.52	2.32	0.28847	.	0.226705	0.22654	N	0.057282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.6021	6.074	0.19905	0.2277:0.0:0.0:0.7723	.	.	.	.	X	73	.	ENSP00000359392:L73X	L	+	2	0	C6orf221	74129587	0.003000	0.15002	0.001000	0.08648	0.009000	0.06853	2.029000	0.41098	0.704000	0.31869	-0.333000	0.08304	TTG	.		0.582	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361	
KIAA0586	9786	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	58937380	58937380	+	Missense_Mutation	SNP	T	T	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr14:58937380T>A	ENST00000556134.1	+	18	2721	c.2447T>A	c.(2446-2448)gTc>gAc	p.V816D	KIAA0586_ENST00000261244.5_Missense_Mutation_p.V755D|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.V884D|KIAA0586_ENST00000423743.3_Missense_Mutation_p.V787D	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	816					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGTGCTGATGTCCTTTCACCT	0.333																																					p.V884D		.											.	KIAA0586	23	0			c.T2651A						.						135.0	129.0	131.0					14																	58937380		1898	4116	6014	SO:0001583	missense	9786	exon19			CTGATGTCCTTTC	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.2447T>A	14.37:g.58937380T>A	ENSP00000452351:p.Val816Asp	190.0	0.0		166.0	25.0	NM_001244189	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.565710	0.27915	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.5	-3.72	0.04411	.	0.976288	0.08369	N	0.956388	T	0.39064	0.1064	L	0.50333	1.59	0.09310	N	0.999999	B;B;P;B;B;B	0.46220	0.145;0.145;0.874;0.045;0.145;0.145	B;B;P;B;B;B	0.45712	0.033;0.092;0.491;0.05;0.075;0.075	T	0.39860	-0.9593	10	0.52906	T	0.07	.	2.5032	0.04638	0.092:0.2636:0.2291:0.4154	.	691;691;884;755;816;787	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	D	884;816;787;755;691	ENSP00000346359:V884D;ENSP00000452351:V816D;ENSP00000399427:V787D;ENSP00000261244:V755D	ENSP00000261244:V755D	V	+	2	0	KIAA0586	58007133	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.726000	0.04936	-0.111000	0.12001	-1.055000	0.02315	GTC	.		0.333	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749	
KIAA1324L	222223	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	86569424	86569424	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr7:86569424A>G	ENST00000450689.2	-	6	934	c.749T>C	c.(748-750)cTg>cCg	p.L250P	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.L250P|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.L10P|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.L83P	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	250						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GCCTGATTTCAGCATTACCTA	0.388																																					p.L250P		.											.	KIAA1324L	97	0			c.T749C						.						140.0	130.0	133.0					7																	86569424		2203	4300	6503	SO:0001583	missense	222223	exon6			GATTTCAGCATTA	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.749T>C	7.37:g.86569424A>G	ENSP00000413445:p.Leu250Pro	246.0	1.0		217.0	69.0	NM_001142749	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.640215	0.87859	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000001	T	0.64283	0.2584	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.69624	-0.5095	10	0.87932	D	0	.	15.5086	0.75760	1.0:0.0:0.0:0.0	.	250;10;83	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	P	250;10;250;83	ENSP00000413445:L250P;ENSP00000297222:L10P;ENSP00000397377:L250P;ENSP00000402390:L83P	ENSP00000297222:L10P	L	-	2	0	KIAA1324L	86407360	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.284000	0.95882	2.266000	0.75297	0.528000	0.53228	CTG	.		0.388	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	
KIF19	124602	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	72342619	72342619	+	Missense_Mutation	SNP	A	A	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr17:72342619A>C	ENST00000389916.4	+	8	1018	c.880A>C	c.(880-882)Aag>Cag	p.K294Q		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	294	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GGGTAGCAACAAGTACATCAA	0.597																																					p.K294Q		.											.	KIF19	90	0			c.A880C						.						82.0	50.0	61.0					17																	72342619		2155	4180	6335	SO:0001583	missense	124602	exon8			AGCAACAAGTACA	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.880A>C	17.37:g.72342619A>C	ENSP00000374566:p.Lys294Gln	152.0	0.0		157.0	84.0	NM_153209	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	A	13.83	2.354840	0.41700	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.75589	-0.95;-0.95	5.8	3.47	0.39725	Kinesin, motor domain (3);	.	.	.	.	T	0.69780	0.3149	N	0.25031	0.7	0.43959	D	0.996632	B;D;B;B	0.54207	0.392;0.965;0.024;0.01	B;P;B;B	0.60949	0.27;0.881;0.039;0.022	T	0.62464	-0.6849	9	0.17369	T	0.5	.	7.8148	0.29252	0.6688:0.262:0.0693:0.0	.	294;252;252;294	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	Q	252;294	ENSP00000449134:K252Q;ENSP00000374566:K294Q	ENSP00000374566:K294Q	K	+	1	0	KIF19	69854214	1.000000	0.71417	0.843000	0.33291	0.195000	0.23768	5.788000	0.69020	0.409000	0.25649	0.454000	0.30748	AAG	.		0.597	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209	
KPNA6	23633	hgsc.bcm.edu;bcgsc.ca	37	1	32631794	32631794	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:32631794T>C	ENST00000373625.3	+	11	1172	c.1079T>C	c.(1078-1080)aTt>aCt	p.I360T	KPNA6_ENST00000537234.1_Missense_Mutation_p.I357T|KPNA6_ENST00000545542.1_Missense_Mutation_p.I365T	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	360	NLS binding site (minor). {ECO:0000250}.				maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGCTGGACTATTTCAAATATT	0.473																																					p.I360T		.											.	KPNA6	226	0			c.T1079C						.						95.0	89.0	91.0					1																	32631794		2203	4300	6503	SO:0001583	missense	23633	exon11			GGACTATTTCAAA	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.1079T>C	1.37:g.32631794T>C	ENSP00000362728:p.Ile360Thr	142.0	0.0		91.0	4.0	NM_012316	B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	CCDS352.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.893297	0.91889	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542;ENST00000446515	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.11	5.11	0.69529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89588	0.6758	H	0.98199	4.17	0.80722	D	1	D;D;D	0.58970	0.98;0.984;0.96	P;D;D	0.66979	0.897;0.938;0.948	D	0.93410	0.6768	10	0.87932	D	0	-10.365	15.6231	0.76824	0.0:0.0:0.0:1.0	.	365;365;360	F5GYL8;B4DWX3;O60684	.;.;IMA7_HUMAN	T	360;290;357;365;267	ENSP00000362728:I360T;ENSP00000444930:I357T;ENSP00000440609:I365T;ENSP00000415677:I267T	ENSP00000362719:I290T	I	+	2	0	KPNA6	32404381	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.993000	0.88291	2.234000	0.73211	0.528000	0.53228	ATT	.		0.473	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316	
KRT4	3851	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	53202117	53202117	+	Silent	SNP	G	G	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr12:53202117G>T	ENST00000551956.1	-	6	1578	c.1086C>A	c.(1084-1086)atC>atA	p.I362I	KRT4_ENST00000458244.2_Silent_p.I342I|KRT4_ENST00000293774.4_Silent_p.I436I			P19013	K2C4_HUMAN	keratin 4	376	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCAGCCTCTGGATCATCCTGT	0.537																																					p.I362I	Pancreas(190;284 2995 41444 45903)	.											.	KRT4	96	0			c.C1086A						.						155.0	159.0	158.0					12																	53202117		2199	4300	6499	SO:0001819	synonymous_variant	3851	exon6			CCTCTGGATCATC		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1086C>A	12.37:g.53202117G>T		290.0	0.0		273.0	42.0	NM_002272	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	CCDS41787.2																																																																																			.		0.537	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	
KRTAP4-11	653240	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	39274012	39274012	+	Missense_Mutation	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr17:39274012G>A	ENST00000391413.2	-	1	594	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	186						keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CACAAGGGGCGGGGGCAGCTG	0.627																																					p.R186C		.											.	.	.	0			c.C556T						.						54.0	65.0	62.0					17																	39274012		692	1590	2282	SO:0001583	missense	653240	exon1			AGGGGCGGGGGCA	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.556C>T	17.37:g.39274012G>A	ENSP00000375232:p.Arg186Cys	190.0	0.0		288.0	158.0	NM_033059	A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	11.82	1.752937	0.31046	.	.	ENSG00000212721	ENST00000391413	T	0.00646	6.0	4.15	0.8	0.18672	.	.	.	.	.	T	0.00906	0.0030	M	0.77313	2.365	0.42061	D	0.991167	B	0.22604	0.072	B	0.15052	0.012	T	0.53989	-0.8360	9	0.62326	D	0.03	.	1.5419	0.02557	0.1858:0.1731:0.4637:0.1774	.	186	Q9BYQ6	KR411_HUMAN	C	186	ENSP00000375232:R186C	ENSP00000375232:R186C	R	-	1	0	KRTAP4-11	36527538	1.000000	0.71417	0.998000	0.56505	0.463000	0.32649	2.962000	0.49176	0.370000	0.24538	-0.233000	0.12211	CGC	.		0.627	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
LAMB2	3913	hgsc.bcm.edu;bcgsc.ca	37	3	49169091	49169091	+	Silent	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr3:49169091G>A	ENST00000418109.1	-	6	689	c.525C>T	c.(523-525)taC>taT	p.Y175Y	LAMB2_ENST00000305544.4_Silent_p.Y175Y	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	175	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGAAATATCGGTACACATGCC	0.582																																					p.Y175Y		.											.	LAMB2	93	0			c.C525T						.						87.0	91.0	90.0					3																	49169091		2203	4300	6503	SO:0001819	synonymous_variant	3913	exon5			ATATCGGTACACA		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.525C>T	3.37:g.49169091G>A		68.0	0.0		92.0	5.0	NM_002292	Q16321	Silent	SNP	ENST00000418109.1	37	CCDS2789.1																																																																																			.		0.582	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292	
LCE1F	353137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	152748869	152748869	+	Missense_Mutation	SNP	C	C	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:152748869C>A	ENST00000334371.2	+	1	22	c.22C>A	c.(22-24)Cag>Aag	p.Q8K		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	8					keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGAGCCAGCAGCAGTGCCA	0.617																																					p.Q8K		.											.	LCE1F	68	0			c.C22A						.						60.0	60.0	60.0					1																	152748869		2203	4300	6503	SO:0001583	missense	353137	exon1			AGCCAGCAGCAGT		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.22C>A	1.37:g.152748869C>A	ENSP00000334187:p.Gln8Lys	260.0	0.0		841.0	640.0	NM_178354		Missense_Mutation	SNP	ENST00000334371.2	37	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049933	0.36181	.	.	ENSG00000240386	ENST00000334371	T	0.04194	3.68	4.28	4.28	0.50868	.	0.000000	0.33534	N	0.004804	T	0.10078	0.0247	M	0.70595	2.14	0.26403	N	0.976398	P	0.52577	0.954	D	0.65140	0.932	T	0.00867	-1.1534	10	0.87932	D	0	.	12.392	0.55364	0.0:1.0:0.0:0.0	.	8	Q5T754	LCE1F_HUMAN	K	8	ENSP00000334187:Q8K	ENSP00000334187:Q8K	Q	+	1	0	LCE1F	151015493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.596000	0.54024	2.356000	0.79943	0.563000	0.77884	CAG	.		0.617	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354	
LEAP2	116842	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	132209684	132209685	+	Frame_Shift_Ins	INS	-	-	G	rs377649330		TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr5:132209684_132209685insG	ENST00000296877.2	+	2	1473_1474	c.100_101insG	c.(100-102)aggfs	p.R34fs	LEAP2_ENST00000485457.1_3'UTR	NM_052971.2	NP_443203.1	Q969E1	LEAP2_HUMAN	liver expressed antimicrobial peptide 2	34					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				NS(1)|endometrium(1)	2		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCAAAGAGAAGGCCACGGAGA	0.51																																					p.R34fs		.											.	LEAP2	90	0			c.100_101insG						.																																			SO:0001589	frameshift_variant	116842	exon2			AAGAGAAGGCCAC	AJ409065, BX443829	CCDS4163.1	5q31.1	2008-02-05			ENSG00000164406	ENSG00000164406			29571	protein-coding gene	gene with protein product		611373				12493837	Standard	NM_052971		Approved	LEAP-2	uc003kyc.3	Q969E1	OTTHUMG00000059837	ENST00000296877.2:c.102dupG	5.37:g.132209686_132209686dupG	ENSP00000296877:p.Arg34fs	137.0	0.0		135.0	63.0	NM_052971	D3DQ91	Frame_Shift_Ins	INS	ENST00000296877.2	37	CCDS4163.1																																																																																			.		0.510	LEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133046.1	NM_052971	
LIX1L	128077	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	145497479	145497479	+	Silent	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:145497479G>A	ENST00000369308.3	+	4	758	c.684G>A	c.(682-684)ttG>ttA	p.L228L	RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	228										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AATCAATGTTGGAGTTCCAGG	0.453																																					p.L228L		.											.	LIX1L	91	0			c.G684A						.						81.0	66.0	71.0					1																	145497479		2203	4300	6503	SO:0001819	synonymous_variant	128077	exon4			AATGTTGGAGTTC	AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"""Lix1 homolog (mouse) like"", ""Lix1 homolog (chicken)-like"""			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.684G>A	1.37:g.145497479G>A		205.0	0.0		537.0	73.0	NM_153713	Q6AI36	Silent	SNP	ENST00000369308.3	37	CCDS915.1																																																																																			.		0.453	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038513.1	NM_153713	
LOXL3	84695	hgsc.bcm.edu;bcgsc.ca	37	2	74763252	74763252	+	Silent	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:74763252T>C	ENST00000264094.3	-	7	1190	c.1119A>G	c.(1117-1119)gaA>gaG	p.E373E	LOXL3_ENST00000409549.1_Silent_p.E373E|LOXL3_ENST00000409986.1_Silent_p.E228E|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000393937.2_Silent_p.E228E	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	373	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AGCAGCGAACTTCACTCAGGT	0.542																																					p.E373E		.											.	LOXL3	226	0			c.A1119G						.						81.0	83.0	82.0					2																	74763252		2203	4300	6503	SO:0001819	synonymous_variant	84695	exon7			GCGAACTTCACTC	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1119A>G	2.37:g.74763252T>C		73.0	0.0		61.0	4.0	NM_032603	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	37	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	T	6.948	0.544686	0.13312	.	.	ENSG00000115318	ENST00000420535	.	.	.	5.09	-2.87	0.05700	.	.	.	.	.	T	0.50718	0.1632	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47032	-0.9148	4	.	.	.	.	7.337	0.26615	0.0:0.5076:0.1569:0.3355	.	.	.	.	G	100	.	.	S	-	1	0	LOXL3	74616760	0.998000	0.40836	0.909000	0.35828	0.986000	0.74619	0.600000	0.24104	-0.339000	0.08401	0.450000	0.29827	AGT	.		0.542	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603	
LRP2	4036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	170031784	170031784	+	Missense_Mutation	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:170031784C>T	ENST00000263816.3	-	55	10972	c.10687G>A	c.(10687-10689)Ggc>Agc	p.G3563S	LRP2_ENST00000461418.1_5'Flank	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3563	LDL-receptor class A 27. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GTGCAGTTGCCGTCACTGCAC	0.527																																					p.G3563S		.											.	LRP2	175	0			c.G10687A						.						81.0	80.0	80.0					2																	170031784		2203	4300	6503	SO:0001583	missense	4036	exon55			AGTTGCCGTCACT		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10687G>A	2.37:g.170031784C>T	ENSP00000263816:p.Gly3563Ser	213.0	0.0		200.0	88.0	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352685	0.61293	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.92595	-3.07	5.71	3.9	0.45041	.	0.050715	0.85682	D	0.000000	D	0.95503	0.8539	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93670	0.6989	10	0.25751	T	0.34	.	11.4275	0.50020	0.0:0.8052:0.1269:0.0679	.	3563	P98164	LRP2_HUMAN	S	3563;258	ENSP00000263816:G3563S	ENSP00000263816:G3563S	G	-	1	0	LRP2	169740030	1.000000	0.71417	0.861000	0.33841	0.116000	0.19942	6.089000	0.71384	0.746000	0.32786	-0.300000	0.09419	GGC	.		0.527	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LYST	1130	hgsc.bcm.edu;bcgsc.ca	37	1	235922305	235922305	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:235922305T>C	ENST00000389794.3	-	23	7022	c.6848A>G	c.(6847-6849)gAg>gGg	p.E2283G	LYST_ENST00000389793.2_Missense_Mutation_p.E2283G			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2283					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTAATTTGGCTCATAACCAAG	0.418																																					p.E2283G		.											.	LYST	143	0			c.A6848G						.						79.0	72.0	75.0					1																	235922305		2203	4300	6503	SO:0001583	missense	1130	exon23			TTTGGCTCATAAC	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6848A>G	1.37:g.235922305T>C	ENSP00000374444:p.Glu2283Gly	126.0	0.0		85.0	5.0	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.640388	0.47153	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.65364	-0.15;-0.15	4.93	2.58	0.30949	.	1.094320	0.06799	N	0.788353	T	0.53465	0.1798	L	0.36672	1.1	0.80722	D	1	B	0.16166	0.016	B	0.12837	0.008	T	0.46205	-0.9208	10	0.66056	D	0.02	.	8.822	0.35032	0.0:0.1556:0.0:0.8444	.	2283	Q99698	LYST_HUMAN	G	2283	ENSP00000374444:E2283G;ENSP00000374443:E2283G	ENSP00000374443:E2283G	E	-	2	0	LYST	233988928	0.996000	0.38824	0.631000	0.29282	0.969000	0.65631	3.596000	0.54024	0.839000	0.34971	0.456000	0.33151	GAG	.		0.418	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
MAK16	84549	broad.mit.edu;bcgsc.ca	37	8	33355953	33355953	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr8:33355953A>G	ENST00000360128.6	+	10	1166	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	237	Asp-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						GTAATAGGATATGGATAAACT	0.443																																					p.M237V		.											.	MAK16	69	0			c.A709G						.						50.0	49.0	49.0					8																	33355953		2203	4300	6503	SO:0001583	missense	84549	exon10			TAGGATATGGATA	AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"""RNA binding motif (RRM) containing"""	13703	protein-coding gene	gene with protein product			"""RNA binding motif protein 13"""	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.709A>G	8.37:g.33355953A>G	ENSP00000353246:p.Met237Val	96.0	0.0		90.0	5.0	NM_032509	B2RB44|Q5U5T1|Q86UC4|Q96SY6	Missense_Mutation	SNP	ENST00000360128.6	37	CCDS6089.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.287128	0.23478	.	.	ENSG00000198042	ENST00000360128	T	0.39787	1.06	5.92	4.76	0.60689	.	0.077646	0.85682	D	0.000000	T	0.41351	0.1155	M	0.73598	2.24	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26258	-1.0108	10	0.16896	T	0.51	-25.8714	11.5726	0.50843	0.9298:0.0:0.0702:0.0	.	237	Q9BXY0	MAK16_HUMAN	V	237	ENSP00000353246:M237V	ENSP00000353246:M237V	M	+	1	0	MAK16	33475495	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.873000	0.75541	1.065000	0.40693	0.383000	0.25322	ATG	.		0.443	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376559.3	NM_032509	
MAP7D2	256714	broad.mit.edu;bcgsc.ca	37	X	20074814	20074814	+	Silent	SNP	T	T	C	rs371876821		TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chrX:20074814T>C	ENST00000379651.3	-	4	486	c.468A>G	c.(466-468)ggA>ggG	p.G156G	MAP7D2_ENST00000379643.5_Silent_p.G156G|MAP7D2_ENST00000452324.3_Silent_p.G112G|MAP7D2_ENST00000443379.3_Silent_p.G156G|MAP7D2_ENST00000543767.1_Silent_p.G27G	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	156					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GTCCTCCGGGTCCAATGGCCA	0.582																																					p.G156G		.											.	MAP7D2	195	0			c.A468G						.	T	,,,	1,3834		0,1,1631,571	124.0	82.0	96.0		468,468,336,468	-3.9	0.0	X		96	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MAP7D2	NM_001168465.1,NM_001168466.1,NM_001168467.1,NM_152780.3	,,,	0,1,4059,2443	CC,CT,TT,T		0.0,0.0261,0.0095	,,,	156/774,156/688,112/681,156/733	20074814	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	256714	exon4			TCCGGGTCCAATG	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.468A>G	X.37:g.20074814T>C		62.0	0.0		67.0	6.0	NM_001168466	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	ENST00000379651.3	37	CCDS14195.1																																																																																			.		0.582	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780	
MLH1	4292	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	37053518	37053518	+	Missense_Mutation	SNP	C	C	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr3:37053518C>G	ENST00000231790.2	+	8	821	c.605C>G	c.(604-606)gCt>gGt	p.A202G	MLH1_ENST00000435176.1_Missense_Mutation_p.A104G|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000458205.2_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	202					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GAGACAGTAGCTGATGTTAGG	0.408		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.A202G		.	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	.	MLH1	2559	1	Whole gene deletion(1)	ovary(1)	c.C605G						.						144.0	130.0	135.0					3																	37053518		2203	4300	6503	SO:0001583	missense	4292	exon8	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	CAGTAGCTGATGT	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.605C>G	3.37:g.37053518C>G	ENSP00000231790:p.Ala202Gly	209.0	0.0		178.0	56.0	NM_000249	B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.54|19.54	3.846296|3.846296	0.71603|0.71603	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000383761;ENST00000435176|ENST00000456676	T;T|.	0.81247|.	-1.47;-1.47|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (2);|.	0.173869|.	0.49305|.	D|.	0.000145|.	T|T	0.78799|0.78799	0.4340|0.4340	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	P;B;B|.	0.38455|.	0.632;0.275;0.151|.	B;B;B|.	0.41946|.	0.371;0.24;0.185|.	T|T	0.77656|0.77656	-0.2506|-0.2506	10|5	0.25751|.	T|.	0.34|.	-7.6496|-7.6496	19.9576|19.9576	0.97228|0.97228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	104;202;202|.	E9PCU2;Q53GX1;P40692|.	.;.;MLH1_HUMAN|.	G|V	202;168;168;66;104|194	ENSP00000231790:A202G;ENSP00000402564:A104G|.	ENSP00000231790:A202G|.	A|L	+|+	2|1	0|2	MLH1|MLH1	37028522|37028522	1.000000|1.000000	0.71417|0.71417	0.437000|0.437000	0.26809|0.26809	0.769000|0.769000	0.43574|0.43574	7.417000|7.417000	0.80156|0.80156	2.736000|2.736000	0.93811|0.93811	0.655000|0.655000	0.94253|0.94253	GCT|CTG	.		0.408	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249	
KMT2C	58508	broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	151962208	151962208	+	Missense_Mutation	SNP	G	G	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr7:151962208G>C	ENST00000262189.6	-	8	1317	c.1099C>G	c.(1099-1101)Cat>Gat	p.H367D	KMT2C_ENST00000355193.2_Missense_Mutation_p.H367D	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	367					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.H367Y(2)									CACATTCCATGATAGTGCTGA	0.448																																					p.H367D		.											.	MLL3	1398	2	Substitution - Missense(2)	breast(2)	c.C1099G						.						408.0	365.0	380.0					7																	151962208		2203	4300	6503	SO:0001583	missense	58508	exon8			TTCCATGATAGTG	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1099C>G	7.37:g.151962208G>C	ENSP00000262189:p.His367Asp	527.0	0.0		566.0	41.0	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101910	0.37048	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.99853	-7.18;-7.18	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.42964	U	0.000636	D	0.99887	0.9946	M	0.92507	3.315	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.96105	0.9072	10	0.87932	D	0	.	17.9157	0.88950	0.0:0.0:1.0:0.0	.	367	Q8NEZ4	MLL3_HUMAN	D	367	ENSP00000262189:H367D;ENSP00000347325:H367D	ENSP00000262189:H367D	H	-	1	0	MLL3	151593141	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	9.813000	0.99286	2.271000	0.75665	0.557000	0.71058	CAT	.		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
MN1	4330	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	28193394	28193394	+	Silent	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr22:28193394C>T	ENST00000302326.4	-	1	4092	c.3138G>A	c.(3136-3138)tcG>tcA	p.S1046S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1046					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TCACCTCGTCCGAGGCGAACT	0.632			T	ETV6	"""AML, meningioma"""																																p.S1046S		.		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	.	MN1	993	0			c.G3138A						.						60.0	67.0	65.0					22																	28193394		2139	4230	6369	SO:0001819	synonymous_variant	4330	exon1			CTCGTCCGAGGCG	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3138G>A	22.37:g.28193394C>T		72.0	0.0		71.0	21.0	NM_002430	A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																			.		0.632	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430	
DPM1	8813	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	49576556	49576556	+	5'Flank	SNP	A	A	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr20:49576556A>T	ENST00000371588.5	-	0	0				DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000371583.5_5'Flank|MOCS3_ENST00000244051.1_Missense_Mutation_p.I393F|DPM1_ENST00000466152.1_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						AAAAGAAGCAATCTGGGAAGA	0.498																																					p.I393F		.											.	MOCS3	93	0			c.A1177T						.						144.0	145.0	145.0					20																	49576556		2203	4300	6503	SO:0001631	upstream_gene_variant	27304	exon1			GAAGCAATCTGGG	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576556A>T	Exception_encountered	90.0	0.0		75.0	28.0	NM_014484	O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	A	7.852	0.724138	0.15439	.	.	ENSG00000124217	ENST00000244051	T	0.25912	1.77	4.9	2.32	0.28847	Rhodanese-like (4);Molybdenum cofactor biosynthesis, MoeB (1);	0.054579	0.64402	D	0.000001	T	0.21267	0.0512	L	0.46614	1.455	0.51233	D	0.999915	B	0.24368	0.102	B	0.32805	0.153	T	0.05146	-1.0903	9	.	.	.	-3.607	6.1536	0.20326	0.7444:0.1639:0.0918:0.0	.	393	O95396	MOCS3_HUMAN	F	393	ENSP00000244051:I393F	.	I	+	1	0	MOCS3	49009963	0.338000	0.24775	0.445000	0.26908	0.140000	0.21249	0.929000	0.28844	0.262000	0.21774	0.482000	0.46254	ATC	.		0.498	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859	
MTMR4	9110	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	56585600	56585600	+	Missense_Mutation	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr17:56585600G>A	ENST00000323456.5	-	8	711	c.587C>T	c.(586-588)cCt>cTt	p.P196L	MTMR4_ENST00000579925.1_Missense_Mutation_p.P196L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	196	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GATCCACACAGGAACCAGCAG	0.567																																					p.P196L		.											.	MTMR4	91	0			c.C587T						.						76.0	72.0	73.0					17																	56585600		2203	4300	6503	SO:0001583	missense	9110	exon8			CACACAGGAACCA	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.587C>T	17.37:g.56585600G>A	ENSP00000325285:p.Pro196Leu	57.0	0.0		57.0	11.0	NM_004687	D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	35	5.576119	0.96553	.	.	ENSG00000108389	ENST00000323456	D	0.99080	-5.4	5.53	5.53	0.82687	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.99521	0.9829	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98358	1.0547	10	0.87932	D	0	.	18.8095	0.92053	0.0:0.0:1.0:0.0	.	196	Q9NYA4	MTMR4_HUMAN	L	196	ENSP00000325285:P196L	ENSP00000325285:P196L	P	-	2	0	MTMR4	53940599	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.789000	0.99068	2.775000	0.95449	0.650000	0.86243	CCT	.		0.567	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687	
MRC2	9902	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	60765748	60765748	+	Silent	SNP	A	A	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr17:60765748A>T	ENST00000303375.5	+	21	3447	c.3045A>T	c.(3043-3045)acA>acT	p.T1015T	MRC2_ENST00000446119.2_5'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1015	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TCACCATCACAAACCCCTTAG	0.562																																					p.T1015T		.											.	MRC2	117	0			c.A3045T						.						64.0	60.0	61.0					17																	60765748		2203	4300	6503	SO:0001819	synonymous_variant	9902	exon21			CATCACAAACCCC	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3045A>T	17.37:g.60765748A>T		123.0	0.0		108.0	48.0	NM_006039	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	CCDS11634.1																																																																																			.		0.562	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1		
MUC16	94025	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	9062181	9062181	+	Missense_Mutation	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr19:9062181C>T	ENST00000397910.4	-	3	25468	c.25265G>A	c.(25264-25266)aGc>aAc	p.S8422N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8424	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCAGAGCTGCTGGTCTCCCT	0.512																																					p.S8422N		.											.	MUC16	566	0			c.G25265A						.						77.0	75.0	75.0					19																	9062181		2005	4180	6185	SO:0001583	missense	94025	exon3			GAGCTGCTGGTCT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25265G>A	19.37:g.9062181C>T	ENSP00000381008:p.Ser8422Asn	255.0	0.0		123.0	70.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.249	0.414098	0.11870	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	2.89	1.82	0.25136	.	.	.	.	.	T	0.06600	0.0169	L	0.29908	0.895	.	.	.	D	0.76494	0.999	D	0.74348	0.983	T	0.27054	-1.0085	8	0.87932	D	0	.	7.2334	0.26055	0.2638:0.7362:0.0:0.0	.	8422	B5ME49	.	N	8422	ENSP00000381008:S8422N	ENSP00000381008:S8422N	S	-	2	0	MUC16	8923181	0.000000	0.05858	0.012000	0.15200	0.015000	0.08874	0.189000	0.17037	0.769000	0.33313	0.394000	0.25966	AGC	.		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUSK	4593	broad.mit.edu;ucsc.edu;mdanderson.org	37	9	113563239	113563239	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr9:113563239G>T	ENST00000374448.4	+	15	2715	c.2581G>T	c.(2581-2583)Gag>Tag	p.E861*	MUSK_ENST00000189978.5_Nonsense_Mutation_p.E861*|MUSK_ENST00000416899.2_Nonsense_Mutation_p.E853*	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	861					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ACGCATGTGTGAGAGGGCAGA	0.507																																					p.E861X		.											.	MUSK	1379	0			c.G2581T						.						32.0	30.0	31.0					9																	113563239		1998	4176	6174	SO:0001587	stop_gained	4593	exon14			ATGTGTGAGAGGG	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2581G>T	9.37:g.113563239G>T	ENSP00000363571:p.Glu861*	64.0	0.0		55.0	20.0	NM_005592	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Nonsense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	38	6.684088	0.97759	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	.	.	.	5.62	2.6	0.31112	.	0.413908	0.26338	N	0.024951	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	11.0794	0.48051	0.0678:0.3585:0.5737:0.0	.	.	.	.	X	867;861;861;775;775;859	.	ENSP00000189978:E867X	E	+	1	0	MUSK	112603060	1.000000	0.71417	0.942000	0.38095	0.995000	0.86356	3.481000	0.53179	0.340000	0.23745	0.557000	0.71058	GAG	.		0.507	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
MYH4	4622	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	10369612	10369612	+	Missense_Mutation	SNP	C	C	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr17:10369612C>A	ENST00000255381.2	-	4	436	c.326G>T	c.(325-327)cGt>cTt	p.R109L	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	109	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGCTGCGTAACGCTCTTTGAG	0.453																																					p.R109L		.											.	MYH4	102	0			c.G326T						.						265.0	222.0	236.0					17																	10369612		2203	4300	6503	SO:0001583	missense	4622	exon4			GCGTAACGCTCTT		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.326G>T	17.37:g.10369612C>A	ENSP00000255381:p.Arg109Leu	424.0	0.0		420.0	136.0	NM_017533		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507208	0.96386	.	.	ENSG00000141048;ENSG00000125414	ENST00000255381;ENST00000532288	D	0.84873	-1.91	4.85	4.85	0.62838	Myosin head, motor domain (2);	0.195388	0.24915	U	0.034593	D	0.96503	0.8859	H	0.99800	4.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98525	1.0625	10	0.87932	D	0	.	18.4991	0.90875	0.0:1.0:0.0:0.0	.	109	Q9Y623	MYH4_HUMAN	L	109	ENSP00000255381:R109L	ENSP00000431873:R109L	R	-	2	0	MYH2;MYH4	10310337	1.000000	0.71417	0.979000	0.43373	0.983000	0.72400	7.547000	0.82146	2.666000	0.90696	0.650000	0.86243	CGT	.		0.453	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
MYLIP	29116	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	16145168	16145168	+	Missense_Mutation	SNP	C	C	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr6:16145168C>A	ENST00000356840.3	+	6	1066	c.868C>A	c.(868-870)Cgt>Agt	p.R290S	MYLIP_ENST00000349606.4_Missense_Mutation_p.R109S	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	290					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GCAGTATAGCCGTGACTTGAA	0.438																																					p.R290S		.											.	MYLIP	91	0			c.C868A						.						129.0	126.0	127.0					6																	16145168		2203	4300	6503	SO:0001583	missense	29116	exon6			TATAGCCGTGACT	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.868C>A	6.37:g.16145168C>A	ENSP00000349298:p.Arg290Ser	200.0	0.0		182.0	58.0	NM_013262	Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	37	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308985	0.81247	.	.	ENSG00000007944	ENST00000356840;ENST00000349606	D;T	0.82893	-1.66;0.91	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.89005	0.6592	M	0.72118	2.19	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	D	0.89132	0.3510	10	0.72032	D	0.01	.	15.581	0.76439	0.1377:0.8623:0.0:0.0	.	290	Q8WY64	MYLIP_HUMAN	S	290;109	ENSP00000349298:R290S;ENSP00000008686:R109S	ENSP00000008686:R109S	R	+	1	0	MYLIP	16253147	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	2.512000	0.45485	2.941000	0.99782	0.655000	0.94253	CGT	.		0.438	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262	
MYO3B	140469	hgsc.bcm.edu;bcgsc.ca	37	2	171323061	171323061	+	Missense_Mutation	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:171323061C>T	ENST00000408978.4	+	25	2997	c.2854C>T	c.(2854-2856)Cac>Tac	p.H952Y	MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Missense_Mutation_p.H952Y|MYO3B_ENST00000334231.6_Missense_Mutation_p.H961Y	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	952	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGGACAGCCCCACTTTGTGCG	0.527																																					p.H952Y		.											.	MYO3B	530	0			c.C2854T						.						97.0	100.0	99.0					2																	171323061		1931	4134	6065	SO:0001583	missense	140469	exon25			CAGCCCCACTTTG		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2854C>T	2.37:g.171323061C>T	ENSP00000386213:p.His952Tyr	71.0	0.0		75.0	4.0	NM_001083615	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800726	0.90538	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.03	5.03	0.67393	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.87071	0.6086	M	0.80508	2.5	0.80722	D	1	D;P;D	0.89917	0.999;0.929;1.0	D;P;D	0.81914	0.979;0.729;0.995	D	0.89015	0.3431	10	0.87932	D	0	.	18.3721	0.90411	0.0:1.0:0.0:0.0	.	952;952;952	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	Y	952;952;951;961;961	ENSP00000386497:H952Y;ENSP00000386213:H952Y;ENSP00000446237:H961Y;ENSP00000335100:H961Y	ENSP00000314213:H951Y	H	+	1	0	MYO3B	171031307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.348000	0.79779	0.563000	0.77884	CAC	.		0.527	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
NCOA6	23054	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	33337355	33337355	+	Silent	SNP	C	C	T	rs147990465		TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr20:33337355C>T	ENST00000374796.2	-	10	5213	c.2643G>A	c.(2641-2643)acG>acA	p.T881T	NCOA6_ENST00000359003.2_Silent_p.T881T			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	881	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGCTCGTTAGCGTGACATCCT	0.443																																					p.T881T		.											.	NCOA6	292	0			c.G2643A						.	C	,	0,4406		0,0,2203	116.0	106.0	109.0		2643,2643	-10.9	0.2	20	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NCOA6	NM_001242539.1,NM_014071.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	881/1071,881/2064	33337355	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23054	exon9			CGTTAGCGTGACA	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2643G>A	20.37:g.33337355C>T		448.0	1.0		363.0	138.0	NM_014071	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	CCDS13241.1																																																																																			C|1.000;T|0.000		0.443	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
NEBL	10529	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	21074701	21074701	+	Missense_Mutation	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr10:21074701G>A	ENST00000377122.4	-	28	3416	c.3020C>T	c.(3019-3021)gCg>gTg	p.A1007V	NEBL_ENST00000377159.4_Missense_Mutation_p.A229V|NEBL_ENST00000417816.2_Missense_Mutation_p.A263V	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	1007	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AATGTAATTCGCTGGGAGCAT	0.413																																					p.A1007V		.											.	NEBL	92	0			c.C3020T						.						87.0	77.0	80.0					10																	21074701		2203	4300	6503	SO:0001583	missense	10529	exon28			TAATTCGCTGGGA	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.3020C>T	10.37:g.21074701G>A	ENSP00000366326:p.Ala1007Val	107.0	0.0		95.0	31.0	NM_006393	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925330	0.92319	.	.	ENSG00000078114	ENST00000377122;ENST00000417816;ENST00000377159	T;T;T	0.54071	0.59;0.59;0.59	5.46	5.46	0.80206	Src homology-3 domain (5);	0.000000	0.64402	D	0.000002	T	0.73497	0.3594	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.993;0.998	T	0.75977	-0.3127	10	0.87932	D	0	.	19.2953	0.94119	0.0:0.0:1.0:0.0	.	263;1007	Q70I54;O76041	.;NEBL_HUMAN	V	1007;263;229	ENSP00000366326:A1007V;ENSP00000393896:A263V;ENSP00000366364:A229V	ENSP00000366326:A1007V	A	-	2	0	NEBL	21114707	1.000000	0.71417	0.407000	0.26434	0.813000	0.45954	9.869000	0.99810	2.564000	0.86499	0.591000	0.81541	GCG	.		0.413	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	
NEU2	4759	hgsc.bcm.edu;bcgsc.ca	37	2	233898881	233898881	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:233898881A>G	ENST00000233840.3	+	2	257	c.257A>G	c.(256-258)aAc>aGc	p.N86S		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	86					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CGGTCCATGAACCCATGCCCC	0.612																																					p.N86S		.											.	NEU2	90	0			c.A257G						.						120.0	101.0	108.0					2																	233898881		2203	4300	6503	SO:0001583	missense	4759	exon2			CCATGAACCCATG	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.257A>G	2.37:g.233898881A>G	ENSP00000233840:p.Asn86Ser	119.0	0.0		107.0	5.0	NM_005383	Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.999122	0.54147	.	.	ENSG00000115488	ENST00000233840	D	0.92397	-3.03	4.88	3.74	0.42951	Neuraminidase (2);	0.083507	0.51477	D	0.000096	D	0.93070	0.7794	L	0.55103	1.725	0.44736	D	0.997735	D	0.58970	0.984	P	0.62089	0.898	D	0.92618	0.6105	10	0.59425	D	0.04	-48.0065	9.1916	0.37202	0.9143:0.0:0.0857:0.0	.	86	Q9Y3R4	NEUR2_HUMAN	S	86	ENSP00000233840:N86S	ENSP00000233840:N86S	N	+	2	0	NEU2	233607125	1.000000	0.71417	1.000000	0.80357	0.239000	0.25481	5.054000	0.64275	1.821000	0.53095	0.459000	0.35465	AAC	.		0.612	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383	
NFKBIB	4793	ucsc.edu;bcgsc.ca	37	19	39397949	39397949	+	Splice_Site	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr19:39397949G>A	ENST00000313582.5	+	4	742	c.708G>A	c.(706-708)ccG>ccA	p.P236P	NFKBIB_ENST00000572515.1_Splice_Site_p.P236P|NFKBIB_ENST00000392079.3_Splice_Site_p.P204P	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	236					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TTGACAAACCGGTGAGCCCCA	0.642																																					p.P236P	Pancreas(165;1492 2005 6979 7739 34483)	.											.	NFKBIB	658	0			c.G708A						.						63.0	62.0	62.0					19																	39397949		2203	4300	6503	SO:0001630	splice_region_variant	4793	exon4			CAAACCGGTGAGC	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"""Ankyrin repeat domain containing"""	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.708+1G>A	19.37:g.39397949G>A		45.0	0.0		37.0	4.0	NM_002503	A8K3F4|Q96BJ7	Silent	SNP	ENST00000313582.5	37	CCDS12524.1																																																																																			.		0.642	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503	Silent
NMUR1	10316	hgsc.bcm.edu;bcgsc.ca	37	2	232392897	232392897	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:232392897A>G	ENST00000305141.4	-	2	968	c.835T>C	c.(835-837)Tcc>Ccc	p.S279P		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	279					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTGTATCTGGACCTGGCTGCT	0.637																																					p.S279P		.											.	NMUR1	523	0			c.T835C						.						46.0	46.0	46.0					2																	232392897		2203	4300	6503	SO:0001583	missense	10316	exon2			ATCTGGACCTGGC	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.835T>C	2.37:g.232392897A>G	ENSP00000305877:p.Ser279Pro	86.0	0.0		74.0	5.0	NM_006056	O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	37	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	A	8.663	0.901073	0.17760	.	.	ENSG00000171596	ENST00000305141	T	0.38401	1.14	2.75	-5.33	0.02713	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.20740	0.0499	L	0.45581	1.43	0.09310	N	1	P	0.39157	0.662	B	0.33392	0.163	T	0.09465	-1.0673	9	0.30078	T	0.28	.	3.6817	0.08313	0.5167:0.2307:0.0:0.2525	.	279	Q9HB89	NMUR1_HUMAN	P	279	ENSP00000305877:S279P	ENSP00000305877:S279P	S	-	1	0	NMUR1	232101141	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.048000	0.03517	-1.146000	0.02854	0.374000	0.22700	TCC	.		0.637	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056	
NOTCH2	4853	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	120539927	120539927	+	Silent	SNP	G	G	A	rs587603360		TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:120539927G>A	ENST00000256646.2	-	4	663	c.444C>T	c.(442-444)tgC>tgT	p.C148C	NOTCH2_ENST00000602566.1_Silent_p.C109C	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	148	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|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)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGAGACAGGCAGGCATCCG	0.502			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				G|||	1	0.000199681	0.0008	0.0	5008	,	,		27585	0.0		0.0	False		,,,				2504	0.0				p.C148C		.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	NOTCH2	1441	0			c.C444T						.						124.0	98.0	107.0					1																	120539927		2201	4299	6500	SO:0001819	synonymous_variant	4853	exon4	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AGACAGGCAGGCA	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.444C>T	1.37:g.120539927G>A		317.0	1.0		614.0	406.0	NM_001200001	Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	CCDS908.1																																																																																			.		0.502	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
NPHP1	4867	hgsc.bcm.edu;bcgsc.ca	37	2	110881571	110881571	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:110881571A>G	ENST00000393272.3	-	20	2093	c.1996T>C	c.(1996-1998)Tcc>Ccc	p.S666P	NPHP1_ENST00000445609.2_Missense_Mutation_p.S611P|NPHP1_ENST00000355301.4_Missense_Mutation_p.S548P|NPHP1_ENST00000316534.4_Missense_Mutation_p.S667P|AC013268.1_ENST00000390802.1_RNA|NPHP1_ENST00000417665.1_Missense_Mutation_p.S645P	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	666					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						AGGCGTGTGGAGTGGAGAAGT	0.498																																					p.S667P		.											.	NPHP1	92	0			c.T1999C						.						119.0	119.0	119.0					2																	110881571		2203	4300	6503	SO:0001583	missense	4867	exon20			GTGTGGAGTGGAG	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1996T>C	2.37:g.110881571A>G	ENSP00000376953:p.Ser666Pro	105.0	0.0		66.0	4.0	NM_000272	O14837	Missense_Mutation	SNP	ENST00000393272.3	37	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.899515	0.52227	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.69926	-0.06;-0.05;-0.06;-0.04;-0.44	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.82167	0.4978	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.999	D	0.84741	0.0751	10	0.72032	D	0.01	-14.5899	14.4178	0.67163	1.0:0.0:0.0:0.0	.	610;548;666;611;667	B4DQY0;O15259-3;O15259;O15259-2;O15259-4	.;.;NPHP1_HUMAN;.;.	P	667;611;666;548;645	ENSP00000313169:S667P;ENSP00000389879:S611P;ENSP00000376953:S666P;ENSP00000347452:S548P;ENSP00000402176:S645P	ENSP00000313169:S667P	S	-	1	0	NPHP1	110238860	0.987000	0.35691	0.074000	0.20217	0.159000	0.22180	2.865000	0.48412	2.086000	0.62901	0.379000	0.24179	TCC	.		0.498	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272	
NR3C2	4306	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	149073680	149073680	+	Missense_Mutation	SNP	C	C	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr4:149073680C>A	ENST00000358102.3	-	6	2812	c.2450G>T	c.(2449-2451)aGa>aTa	p.R817I	NR3C2_ENST00000512865.1_Missense_Mutation_p.R700I|NR3C2_ENST00000355292.3_Missense_Mutation_p.R821I|NR3C2_ENST00000344721.4_Missense_Mutation_p.R817I|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Missense_Mutation_p.R821I|RP11-76G10.1_ENST00000514843.1_RNA	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	817	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TTTGTACGATCTCCAGCTCAA	0.363																																					p.R817I	Melanoma(27;428 957 40335 51025 51111)	.											.	NR3C2	154	0			c.G2450T						.						133.0	131.0	132.0					4																	149073680		2203	4300	6503	SO:0001583	missense	4306	exon6			TACGATCTCCAGC	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2450G>T	4.37:g.149073680C>A	ENSP00000350815:p.Arg817Ile	308.0	0.0		234.0	78.0	NM_000901	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080490	0.94050	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000511528	D;D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98;-3.98	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.98717	0.9569	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99293	1.0899	9	.	.	.	.	19.7686	0.96352	0.0:1.0:0.0:0.0	.	700;817	B0ZBF5;B0ZBF6	.;.	I	817;821;817;700;821	ENSP00000341390:R817I;ENSP00000347441:R821I;ENSP00000350815:R817I;ENSP00000423510:R700I;ENSP00000421481:R821I	.	R	-	2	0	NR3C2	149293130	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.665000	0.90641	0.591000	0.81541	AGA	.		0.363	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1		
NRBP2	340371	broad.mit.edu;bcgsc.ca	37	8	144919472	144919473	+	Splice_Site	INS	-	-	TGGCA			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	-	-	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr8:144919472_144919473insTGGCA	ENST00000442628.2	-	13	1216		c.e13-1		NRBP2_ENST00000327830.5_Splice_Site	NM_178564.3	NP_848659.2			nuclear receptor binding protein 2											central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TTCCGAGTACCTGGCATGGAAG	0.634																																					.		.											.	NRBP2	354	0			c.1077-1->TGCCA						.																																			SO:0001630	splice_region_variant	340371	exon14			GAGTACCTGGCAT	BC037396	CCDS34959.1, CCDS34959.2	8q24.3	2005-01-24							19339	protein-coding gene	gene with protein product		615563				14702039	Standard	NM_178564		Approved	DKFZp434P086	uc011lkt.2	Q9NSY0		ENST00000442628.2:c.1077-1->TGCCA	8.37:g.144919473_144919477dupTGGCA		75.0	0.0		118.0	20.0	NM_178564		Splice_Site	INS	ENST00000442628.2	37	CCDS34959.2																																																																																			.		0.634	NRBP2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382247.1	NM_178564	Intron
NYNRIN	57523	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	24877718	24877718	+	Missense_Mutation	SNP	C	C	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr14:24877718C>A	ENST00000382554.3	+	3	1160	c.842C>A	c.(841-843)gCa>gAa	p.A281E		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	281					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CAGGAGGCAGCAAACCAGCTG	0.542																																					p.A281E		.											.	NYNRIN	3	0			c.C842A						.						14.0	16.0	15.0					14																	24877718		2112	4232	6344	SO:0001583	missense	57523	exon3			AGGCAGCAAACCA	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.842C>A	14.37:g.24877718C>A	ENSP00000371994:p.Ala281Glu	31.0	0.0		39.0	10.0	NM_025081	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	6.026	0.373102	0.11409	.	.	ENSG00000205978	ENST00000382554	T	0.16457	2.34	4.96	3.04	0.35103	.	5.157060	0.00166	N	0.000013	T	0.14614	0.0353	N	0.24115	0.695	0.09310	N	1	B	0.15719	0.014	B	0.10450	0.005	T	0.20672	-1.0268	10	0.87932	D	0	.	6.1889	0.20513	0.1842:0.7194:0.0:0.0964	.	281	Q9P2P1	NYNRI_HUMAN	E	281	ENSP00000371994:A281E	ENSP00000371994:A281E	A	+	2	0	NYNRIN	23947558	0.001000	0.12720	0.193000	0.23327	0.091000	0.18340	0.734000	0.26101	1.263000	0.44181	0.561000	0.74099	GCA	.		0.542	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1		
OGFOD3	79701	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	80356196	80356196	+	Splice_Site	SNP	C	C	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr17:80356196C>A	ENST00000313056.5	-	8	851		c.e8-1		OGFOD3_ENST00000329197.5_Splice_Site|RP13-20L14.4_ENST00000579188.1_RNA	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)										CGTAGGTCACCTGAGGGCAGA	0.557																																					.		.											.	.	.	0			c.700-1G>T						.						35.0	33.0	34.0					17																	80356196		2203	4300	6503	SO:0001630	splice_region_variant	79701	exon9			GGTCACCTGAGGG	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 101"""	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.700-1G>T	17.37:g.80356196C>A		81.0	0.0		93.0	21.0	NM_024648	C9JDC8|Q8IZ37|Q9H6J2	Splice_Site	SNP	ENST00000313056.5	37	CCDS11811.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418613	0.62622	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	.	.	.	4.31	3.33	0.38152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2924	0.54825	0.171:0.829:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C17orf101	77949485	1.000000	0.71417	0.992000	0.48379	0.858000	0.48976	6.842000	0.75379	0.976000	0.38417	0.491000	0.48974	.	.		0.557	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902	Intron
OPRM1	4988	ucsc.edu;bcgsc.ca;mdanderson.org	37	6	154412235	154412235	+	Silent	SNP	C	C	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr6:154412235C>A	ENST00000330432.7	+	3	1029	c.792C>A	c.(790-792)gtC>gtA	p.V264V	OPRM1_ENST00000524163.1_Silent_p.V264V|OPRM1_ENST00000452687.2_Silent_p.V264V|OPRM1_ENST00000337049.4_Silent_p.V264V|OPRM1_ENST00000518759.1_Silent_p.V183V|OPRM1_ENST00000434900.2_Silent_p.V357V|OPRM1_ENST00000520708.1_Silent_p.V164V|OPRM1_ENST00000522236.1_Silent_p.V164V|OPRM1_ENST00000360422.4_Silent_p.V264V|OPRM1_ENST00000229768.5_Silent_p.V264V|OPRM1_ENST00000435918.2_Silent_p.V264V|OPRM1_ENST00000522555.1_Silent_p.V164V|OPRM1_ENST00000419506.2_Silent_p.V264V|OPRM1_ENST00000414028.2_Silent_p.V264V|OPRM1_ENST00000428397.2_Silent_p.V264V	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	264					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TCAAGAGTGTCCGCATGCTCT	0.502																																					p.V357V		.											.	OPRM1	69	0			c.C1071A						.						169.0	171.0	170.0					6																	154412235		2190	4296	6486	SO:0001819	synonymous_variant	4988	exon5			GAGTGTCCGCATG	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.792C>A	6.37:g.154412235C>A		597.0	2.0		523.0	181.0	NM_001145279	B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Silent	SNP	ENST00000330432.7	37	CCDS55070.1																																																																																			.		0.502	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914	
PANX2	56666	ucsc.edu;bcgsc.ca	37	22	50615985	50615985	+	Missense_Mutation	SNP	C	C	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr22:50615985C>A	ENST00000395842.2	+	2	844	c.844C>A	c.(844-846)Ccg>Acg	p.P282T	PANX2_ENST00000159647.5_Missense_Mutation_p.P282T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	282					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CTGCAAGCTCCCGTCCGTGCA	0.657																																					p.P282T		.											.	PANX2	131	0			c.C844A						.						61.0	45.0	50.0					22																	50615985		2197	4299	6496	SO:0001583	missense	56666	exon2			AAGCTCCCGTCCG		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.844C>A	22.37:g.50615985C>A	ENSP00000379183:p.Pro282Thr	39.0	0.0		36.0	4.0	NM_052839	B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893830	0.33442	.	.	ENSG00000073150	ENST00000159647;ENST00000395842	T;T	0.23950	1.89;1.88	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.28732	0.0712	L	0.27053	0.805	0.58432	D	0.999999	P;P	0.46142	0.846;0.873	P;P	0.55965	0.519;0.788	T	0.01621	-1.1310	10	0.02654	T	1	-27.774	17.0289	0.86455	0.0:1.0:0.0:0.0	.	282;282	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	T	282	ENSP00000159647:P282T;ENSP00000379183:P282T	ENSP00000159647:P282T	P	+	1	0	PANX2	48958112	1.000000	0.71417	0.968000	0.41197	0.765000	0.43378	5.718000	0.68455	2.027000	0.59764	0.491000	0.48974	CCG	.		0.657	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839	
PC	5091	ucsc.edu;bcgsc.ca	37	11	66618558	66618558	+	Silent	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr11:66618558A>G	ENST00000393958.2	-	16	2269	c.2176T>C	c.(2176-2178)Ttg>Ctg	p.L726L	PC_ENST00000528224.1_5'Flank|PC_ENST00000393955.2_Silent_p.L726L|PC_ENST00000529047.1_5'Flank|PC_ENST00000393960.1_Silent_p.L726L	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	726	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TCTTCGGCCAAGCCCATGTAG	0.662																																					p.L726L		.											.	PC	228	0			c.T2176C						.						63.0	58.0	59.0					11																	66618558		2200	4295	6495	SO:0001819	synonymous_variant	5091	exon16			CGGCCAAGCCCAT	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2176T>C	11.37:g.66618558A>G		75.0	0.0		38.0	4.0	NM_000920	B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	CCDS8152.1																																																																																			.		0.662	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716	
PCDHGC3	5098	hgsc.bcm.edu;bcgsc.ca	37	5	140856091	140856091	+	Silent	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr5:140856091T>C	ENST00000308177.3	+	1	512	c.408T>C	c.(406-408)ccT>ccC	p.P136P	PCDHGA1_ENST00000517417.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	136	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTTTCCCTACCCAGGAAA	0.557																																					p.P136P		.											.	PCDHGC3	24	0			c.T408C						.						75.0	76.0	75.0					5																	140856091		2203	4300	6503	SO:0001819	synonymous_variant	5098	exon1			TTTCCCTACCCAG	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.408T>C	5.37:g.140856091T>C		120.0	0.0		119.0	5.0	NM_032402	O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	CCDS4261.1																																																																																			.		0.557	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588	
PDX1	3651	broad.mit.edu;bcgsc.ca;mdanderson.org	37	13	28498632	28498632	+	Missense_Mutation	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr13:28498632G>A	ENST00000381033.4	+	2	765	c.646G>A	c.(646-648)Ggg>Agg	p.G216R		NM_000209.3	NP_000200.1	O00330	ODPX_HUMAN	pancreatic and duodenal homeobox 1	86					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GACAGCTGTCGGGGGTGGCGG	0.672																																					p.G216R		.											.	PDX1	514	0			c.G646A						.						22.0	24.0	23.0					13																	28498632		2201	4300	6501	SO:0001583	missense	3651	exon2			GCTGTCGGGGGTG	AF035260	CCDS9327.1	13q12.1	2012-03-09	2006-12-01	2006-12-01	ENSG00000139515	ENSG00000139515		"""Homeoboxes / ANTP class : HOXL subclass"""	6107	protein-coding gene	gene with protein product	"""somatostatin transcription factor 1"""	600733	"""insulin promoter factor 1, homeodomain transcription factor"""	IPF1		7590740	Standard	NM_000209		Approved	IDX-1, STF-1, PDX-1, MODY4	uc001urt.2	P52945	OTTHUMG00000016638	ENST00000381033.4:c.646G>A	13.37:g.28498632G>A	ENSP00000370421:p.Gly216Arg	41.0	0.0		34.0	8.0	NM_000209	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000381033.4	37	CCDS9327.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086277	0.55861	.	.	ENSG00000139515	ENST00000381033	D	0.91945	-2.94	4.78	4.78	0.61160	.	0.648252	0.13506	N	0.382864	D	0.85440	0.5697	N	0.19112	0.55	0.09310	N	0.999998	B	0.31351	0.32	B	0.24541	0.054	T	0.79137	-0.1927	10	0.59425	D	0.04	.	13.8545	0.63517	0.0:0.1533:0.8467:0.0	.	216	P52945	PDX1_HUMAN	R	216	ENSP00000370421:G216R	ENSP00000370421:G216R	G	+	1	0	PDX1	27396632	0.453000	0.25721	0.008000	0.14137	0.382000	0.30200	2.165000	0.42396	2.339000	0.79563	0.555000	0.69702	GGG	.		0.672	PDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044310.2	NM_000209	
PDZD9	255762	broad.mit.edu;bcgsc.ca	37	16	21995822	21995823	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	-	-	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr16:21995822_21995823insT	ENST00000424898.2	-	4	622_623	c.560_561insA	c.(559-561)catfs	p.H187fs	PDZD9_ENST00000286143.6_Frame_Shift_Ins_p.H125fs|PDZD9_ENST00000537222.2_Frame_Shift_Ins_p.H127fs			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	187										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TCTTATATCCATGCCAGTCTCT	0.396																																					p.H127fs		.											.	PDZD9	91	0			c.381_382insA						.																																			SO:0001589	frameshift_variant	255762	exon3			ATATCCATGCCAG	BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 65"""	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.561dupA	16.37:g.21995823_21995823dupT	ENSP00000400514:p.His187fs	501.0	0.0		401.0	132.0	NM_173806	F5GWW8	Frame_Shift_Ins	INS	ENST00000424898.2	37																																																																																				.		0.396	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381652.1	NM_173806	
PIK3R4	30849	hgsc.bcm.edu;bcgsc.ca	37	3	130435261	130435261	+	Silent	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr3:130435261A>G	ENST00000356763.3	-	9	2867	c.2310T>C	c.(2308-2310)ctT>ctC	p.L770L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	770					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L770L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						ACTTCTTCAGAAGCTGTGCTA	0.398																																					p.L770L		.											.	PIK3R4	1471	1	Substitution - coding silent(1)	lung(1)	c.T2310C						.						90.0	95.0	93.0					3																	130435261		2203	4300	6503	SO:0001819	synonymous_variant	30849	exon9			CTTCAGAAGCTGT	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2310T>C	3.37:g.130435261A>G		134.0	0.0		113.0	6.0	NM_014602	Q2TBF4	Silent	SNP	ENST00000356763.3	37	CCDS3067.1																																																																																			.		0.398	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602	
PLCG2	5336	ucsc.edu;bcgsc.ca	37	16	81969981	81969981	+	Missense_Mutation	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr16:81969981C>T	ENST00000359376.3	+	27	3264	c.3050C>T	c.(3049-3051)gCa>gTa	p.A1017V		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1017	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTCCAGACGGCAGGTAAAGGC	0.572																																					p.A1017V		.											.	PLCG2	892	0			c.C3050T						.						60.0	64.0	63.0					16																	81969981		2086	4219	6305	SO:0001583	missense	5336	exon27			AGACGGCAGGTAA		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3050C>T	16.37:g.81969981C>T	ENSP00000352336:p.Ala1017Val	43.0	0.0		34.0	4.0	NM_002661	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.278006	0.59758	.	.	ENSG00000197943	ENST00000359376	T	0.52295	0.67	4.79	2.76	0.32466	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.407497	0.28706	N	0.014401	T	0.52917	0.1764	L	0.48362	1.52	0.58432	D	0.99999	D	0.53151	0.958	P	0.53360	0.724	T	0.54649	-0.8262	10	0.56958	D	0.05	.	14.7022	0.69164	0.0:0.7239:0.2761:0.0	.	1017	P16885	PLCG2_HUMAN	V	1017	ENSP00000352336:A1017V	ENSP00000352336:A1017V	A	+	2	0	PLCG2	80527482	1.000000	0.71417	0.478000	0.27316	0.090000	0.18270	6.092000	0.71414	0.405000	0.25532	0.561000	0.74099	GCA	.		0.572	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
PLXNA1	5361	hgsc.bcm.edu;bcgsc.ca	37	3	126739124	126739124	+	Silent	SNP	G	G	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr3:126739124G>T	ENST00000393409.2	+	20	3975	c.3975G>T	c.(3973-3975)cgG>cgT	p.R1325R	PLXNA1_ENST00000251772.4_Silent_p.R1302R	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1325					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TTGACTACCGGACATATGCCA	0.607																																					p.R1325R		.											.	PLXNA1	93	0			c.G3975T						.						102.0	83.0	89.0					3																	126739124		2203	4300	6503	SO:0001819	synonymous_variant	5361	exon20			CTACCGGACATAT	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3975G>T	3.37:g.126739124G>T		106.0	0.0		87.0	4.0	NM_032242		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																			.		0.607	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242	
PLOD2	5352	hgsc.bcm.edu;bcgsc.ca	37	3	145795696	145795696	+	Intron	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr3:145795696T>C	ENST00000360060.3	-	14	1678				PLOD2_ENST00000461497.1_Missense_Mutation_p.K166E|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.K451E|PLOD2_ENST00000282903.5_Missense_Mutation_p.K506E	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2						cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	GGGGAGTCTTTTTCCCTTTGT	0.343																																					p.K506E		.											.	PLOD2	92	0			c.A1516G						.						105.0	118.0	113.0					3																	145795696		2203	4299	6502	SO:0001627	intron_variant	5352	exon14			AGTCTTTTTCCCT	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1501-1014A>G	3.37:g.145795696T>C		41.0	0.0		57.0	4.0	NM_182943	B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	t	14.42	2.529067	0.44969	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000494950	D;T;T	0.90504	-2.68;-0.06;-0.05	6.0	6.0	0.97389	.	0.185560	0.38058	N	0.001838	D	0.84575	0.5502	N	0.14661	0.345	0.37782	D	0.927046	P;D;P	0.55605	0.877;0.972;0.877	B;P;B	0.47162	0.339;0.54;0.265	D	0.83788	0.0229	10	0.09843	T	0.71	-32.0152	16.537	0.84375	0.0:0.0:0.0:1.0	.	451;506;166	E7ETU9;O00469-2;B3KWS3	.;.;.	E	166;506;451	ENSP00000419354:K166E;ENSP00000282903:K506E;ENSP00000420094:K451E	ENSP00000282903:K506E	K	-	1	0	PLOD2	147278386	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.590000	0.82653	2.296000	0.77279	0.524000	0.50904	AAA	.		0.343	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935	
PNLIP	5406	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	118310666	118310666	+	Silent	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr10:118310666C>T	ENST00000369221.2	+	5	409	c.381C>T	c.(379-381)tcC>tcT	p.S127S	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	127					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	AAGGTGGCTCCCGAACTGGAT	0.443																																					p.S127S		.											.	PNLIP	92	0			c.C381T						.						100.0	91.0	94.0					10																	118310666		2203	4300	6503	SO:0001819	synonymous_variant	5406	exon5			TGGCTCCCGAACT	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.381C>T	10.37:g.118310666C>T		265.0	0.0		119.0	63.0	NM_000936	Q5VSQ2	Silent	SNP	ENST00000369221.2	37	CCDS7594.1																																																																																			.		0.443	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936	
POLN	353497	hgsc.bcm.edu;bcgsc.ca	37	4	2210196	2210196	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr4:2210196T>C	ENST00000511885.2	-	5	585	c.232A>G	c.(232-234)Agt>Ggt	p.S78G	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.S78G			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	78					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GATGTCTGACTTCTTAAAGAT	0.378								DNA polymerases (catalytic subunits)																													p.S78G		.											.	POLN	539	0			c.A232G						.						45.0	47.0	46.0					4																	2210196		2202	4300	6502	SO:0001583	missense	353497	exon3			TCTGACTTCTTAA	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.232A>G	4.37:g.2210196T>C	ENSP00000435506:p.Ser78Gly	78.0	0.0		59.0	4.0	NM_181808	A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	T	8.282	0.815687	0.16607	.	.	ENSG00000130997	ENST00000511885;ENST00000382865	T;T	0.46819	0.86;0.86	5.26	1.56	0.23342	.	3.085710	0.00575	N	0.000310	T	0.33381	0.0861	L	0.29908	0.895	0.09310	N	1	P;B	0.39782	0.688;0.435	B;B	0.28849	0.095;0.057	T	0.32851	-0.9891	10	0.62326	D	0.03	-3.4331	5.763	0.18211	0.0:0.4072:0.0:0.5928	.	78;78	E7ERY2;Q7Z5Q5	.;DPOLN_HUMAN	G	78	ENSP00000435506:S78G;ENSP00000372316:S78G	ENSP00000372316:S78G	S	-	1	0	POLN	2179994	0.000000	0.05858	0.068000	0.19968	0.175000	0.22909	0.385000	0.20685	0.326000	0.23384	0.454000	0.30748	AGT	.		0.378	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808	
PPP1R3B	79660	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	8998473	8998473	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr8:8998473T>C	ENST00000310455.3	-	2	839	c.689A>G	c.(688-690)tAt>tGt	p.Y230C	RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA|PPP1R3B_ENST00000519699.1_Missense_Mutation_p.Y230C	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	230	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GATGATCCTATAGTTCTTGCC	0.498																																					p.Y230C		.											.	PPP1R3B	228	0			c.A689G						.						199.0	186.0	191.0					8																	8998473		2203	4300	6503	SO:0001583	missense	79660	exon2			ATCCTATAGTTCT	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.689A>G	8.37:g.8998473T>C	ENSP00000308318:p.Tyr230Cys	568.0	0.0		488.0	190.0	NM_001201329	B3KTV3|Q9H812	Missense_Mutation	SNP	ENST00000310455.3	37	CCDS5973.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.039529	0.75732	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	T;T	0.81247	-1.47;-1.47	5.93	5.93	0.95920	Putative phosphatase regulatory subunit (2);	0.000000	0.85682	D	0.000000	D	0.93700	0.7987	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95816	0.8845	10	0.87932	D	0	-25.2476	15.5641	0.76277	0.0:0.0:0.0:1.0	.	230	Q86XI6	PPR3B_HUMAN	C	230	ENSP00000308318:Y230C;ENSP00000428642:Y230C	ENSP00000308318:Y230C	Y	-	2	0	PPP1R3B	9035883	1.000000	0.71417	0.959000	0.39883	0.765000	0.43378	8.040000	0.89188	2.271000	0.75665	0.459000	0.35465	TAT	.		0.498	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607	
PPP2R3A	5523	hgsc.bcm.edu;bcgsc.ca	37	3	135721457	135721457	+	Missense_Mutation	SNP	T	T	C	rs148236440		TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr3:135721457T>C	ENST00000264977.3	+	2	1734	c.1117T>C	c.(1117-1119)Tcc>Ccc	p.S373P	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	373					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCAAACAACTCCACAAATTC	0.373																																					p.S373P		.											.	PPP2R3A	662	0			c.T1117C						.						63.0	64.0	63.0					3																	135721457		2203	4298	6501	SO:0001583	missense	5523	exon2			AACAACTCCACAA	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1117T>C	3.37:g.135721457T>C	ENSP00000264977:p.Ser373Pro	135.0	0.0		119.0	5.0	NM_002718	A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	T	5.003	0.186191	0.09495	.	.	ENSG00000073711	ENST00000264977	T	0.06068	3.35	4.95	1.25	0.21368	.	0.275476	0.35615	N	0.003083	T	0.03263	0.0095	L	0.31664	0.95	0.35027	D	0.758389	P	0.37864	0.61	B	0.29440	0.102	T	0.50065	-0.8871	10	0.28530	T	0.3	.	4.2532	0.10705	0.1628:0.1525:0.0:0.6847	.	373	Q06190	P2R3A_HUMAN	P	373	ENSP00000264977:S373P	ENSP00000264977:S373P	S	+	1	0	PPP2R3A	137204147	0.650000	0.27331	0.129000	0.21949	0.584000	0.36387	1.367000	0.34204	0.681000	0.31386	0.533000	0.62120	TCC	T|1.000;G|0.000		0.373	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718	
PRMT9	90826	hgsc.bcm.edu;bcgsc.ca	37	4	148563937	148563937	+	Splice_Site	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr4:148563937C>T	ENST00000322396.6	-	10	2442		c.e10+1		PRMT10_ENST00000541232.1_Splice_Site|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN								cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TAGACACTTACCTGAAACTGG	0.408																																					.		.											.	PRMT10	91	0			c.2199+1G>A						.						97.0	98.0	98.0					4																	148563937		2203	4300	6503	SO:0001630	splice_region_variant	90826	exon11			CACTTACCTGAAA																												ENST00000322396.6:c.2199+1G>A	4.37:g.148563937C>T		128.0	0.0		78.0	4.0	NM_138364	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Splice_Site	SNP	ENST00000322396.6	37	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911053	0.92178	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1731	0.98165	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRMT10	148783387	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	6.817000	0.75252	2.768000	0.95171	0.655000	0.94253	.	.		0.408	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1		Intron
PTPRN2	5799	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	157369373	157369373	+	Missense_Mutation	SNP	C	C	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr7:157369373C>A	ENST00000389418.4	-	19	2724	c.2715G>T	c.(2713-2715)caG>caT	p.Q905H	PTPRN2_ENST00000409483.1_Missense_Mutation_p.Q867H|PTPRN2_ENST00000389416.4_Missense_Mutation_p.Q888H|MIR153-2_ENST00000385225.1_RNA|PTPRN2_ENST00000389413.3_Missense_Mutation_p.Q876H|PTPRN2_ENST00000404321.2_Missense_Mutation_p.Q928H	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	905	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGAAGTGGAACTGCGTCACGG	0.607																																					p.Q905H		.											.	PTPRN2	295	0			c.G2715T						.						91.0	70.0	77.0					7																	157369373		2203	4300	6503	SO:0001583	missense	5799	exon19			GTGGAACTGCGTC	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2715G>T	7.37:g.157369373C>A	ENSP00000374069:p.Gln905His	148.0	0.0		142.0	44.0	NM_002847	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008959	0.75046	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82	5.44	4.56	0.56223	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.25827	0.0629	L	0.49256	1.55	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.992;0.987;0.999;0.99	T	0.00790	-1.1565	10	0.87932	D	0	.	11.3194	0.49412	0.0:0.855:0.0:0.145	.	928;867;876;888;905	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	H	867;876;888;905;928	ENSP00000387114:Q867H;ENSP00000374064:Q876H;ENSP00000374067:Q888H;ENSP00000374069:Q905H;ENSP00000385464:Q928H	ENSP00000374064:Q876H	Q	-	3	2	PTPRN2	157062134	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.065000	0.49994	1.302000	0.44855	0.650000	0.86243	CAG	.		0.607	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		
PTPRU	10076	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	29641992	29641992	+	Silent	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:29641992C>T	ENST00000345512.3	+	24	3495	c.3366C>T	c.(3364-3366)tcC>tcT	p.S1122S	PTPRU_ENST00000428026.2_Silent_p.S1109S|PTPRU_ENST00000356870.3_Silent_p.S1118S|PTPRU_ENST00000373779.3_Silent_p.S1112S|PTPRU_ENST00000323874.8_Silent_p.S1118S|PTPRU_ENST00000460170.2_Silent_p.S1118S	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1122	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTCTCTGCTCCCGGCGTGTCA	0.562																																					p.S1122S		.											.	PTPRU	291	0			c.C3366T						.						132.0	122.0	126.0					1																	29641992		2203	4300	6503	SO:0001819	synonymous_variant	10076	exon24			CTGCTCCCGGCGT	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3366C>T	1.37:g.29641992C>T		161.0	0.0		82.0	48.0	NM_005704	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	CCDS334.1																																																																																			.		0.562	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1		
PUS10	150962	hgsc.bcm.edu;bcgsc.ca	37	2	61175283	61175283	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:61175283A>G	ENST00000316752.6	-	16	1607	c.1346T>C	c.(1345-1347)cTt>cCt	p.L449P	PUS10_ENST00000407787.1_Missense_Mutation_p.L449P	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	449	RNA binding thumb loop. {ECO:0000255}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			CCTTCGGTGAAGGACGCGCAA	0.527																																					p.L449P		.											.	PUS10	291	0			c.T1346C						.						171.0	171.0	171.0					2																	61175283		2203	4300	6503	SO:0001583	missense	150962	exon16			CGGTGAAGGACGC	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.1346T>C	2.37:g.61175283A>G	ENSP00000326003:p.Leu449Pro	152.0	0.0		123.0	5.0	NM_144709	Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	37	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.713327	0.89112	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	D;D	0.89123	-2.47;-2.47	6.16	6.16	0.99307	Pseudouridine synthase, catalytic domain (1);	0.065114	0.64402	D	0.000006	D	0.95411	0.8510	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95812	0.8842	10	0.66056	D	0.02	-2.398	16.8061	0.85666	1.0:0.0:0.0:0.0	.	449;449	A8K6R4;Q3MIT2	.;PUS10_HUMAN	P	449	ENSP00000326003:L449P;ENSP00000386074:L449P	ENSP00000326003:L449P	L	-	2	0	PUS10	61028787	1.000000	0.71417	0.986000	0.45419	0.906000	0.53458	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	CTT	.		0.527	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709	
QRICH2	84074	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	74287960	74287960	+	Missense_Mutation	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr17:74287960C>T	ENST00000262765.5	-	4	2529	c.2350G>A	c.(2350-2352)Gat>Aat	p.D784N		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	784										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TGAGATAAATCATGCAAATAT	0.498																																					p.D784N		.											.	QRICH2	94	0			c.G2350A						.						166.0	161.0	163.0					17																	74287960		2203	4300	6503	SO:0001583	missense	84074	exon4			ATAAATCATGCAA	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.2350G>A	17.37:g.74287960C>T	ENSP00000262765:p.Asp784Asn	166.0	0.0		200.0	53.0	NM_032134	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	9.892	1.204619	0.22205	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08896	3.04	4.23	0.73	0.18271	.	.	.	.	.	T	0.05686	0.0149	N	0.25647	0.755	0.09310	N	1	B;B	0.32467	0.241;0.372	B;B	0.30316	0.08;0.114	T	0.36504	-0.9745	9	0.59425	D	0.04	0.1186	5.9411	0.19194	0.0:0.5165:0.3754:0.1081	.	784;784	B5MD94;Q9H0J4	.;QRIC2_HUMAN	N	784	ENSP00000262765:D784N	ENSP00000262765:D784N	D	-	1	0	QRICH2	71799555	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.644000	0.02002	0.476000	0.27440	0.442000	0.29010	GAT	.		0.498	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134	
TUSC2	11334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	50368106	50368106	+	5'Flank	SNP	C	C	G	rs142957899		TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr3:50368106C>G	ENST00000232496.4	-	0	0				RASSF1_ENST00000395126.3_Missense_Mutation_p.R159P|RASSF1_ENST00000359365.4_Missense_Mutation_p.R310P|RASSF1_ENST00000357043.2_Missense_Mutation_p.R314P|RASSF1_ENST00000327761.3_Missense_Mutation_p.R240P|TUSC2_ENST00000462137.1_5'Flank	NM_007275.1	NP_009206.1	O75896	TUSC2_HUMAN	tumor suppressor candidate 2						cell cycle (GO:0007049)|cell maturation (GO:0048469)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|chemokine (C-C motif) ligand 5 production (GO:0071609)|inflammatory response (GO:0006954)|interleukin-15 production (GO:0032618)|natural killer cell differentiation (GO:0001779)|negative regulation of interleukin-17 production (GO:0032700)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)|phagocytosis (GO:0006909)|positive regulation of interleukin-10 production (GO:0032733)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to defense-related host reactive oxygen species production (GO:0052567)	mitochondrion (GO:0005739)				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTCCTCCTCCCGCTGCAGGAT	0.587																																					p.R314P		.											.	RASSF1	417	0			c.G941C						.						103.0	92.0	95.0					3																	50368106		2203	4300	6503	SO:0001631	upstream_gene_variant	11186	exon6			TCCTCCCGCTGCA	AF055479	CCDS2819.1	3p21.3	2010-09-21	2004-01-20	2004-01-21	ENSG00000114383	ENSG00000114383			17034	protein-coding gene	gene with protein product		607052	"""PDGFA associated protein 2"""	PDAP2		8780057, 11593436	Standard	NM_007275		Approved	FUS1, PAP, C3orf11	uc003czy.1	O75896	OTTHUMG00000156877		3.37:g.50368106C>G	Exception_encountered	79.0	0.0		60.0	12.0	NM_170714	B2R4Y9	Missense_Mutation	SNP	ENST00000232496.4	37	CCDS2819.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613182	0.87359	.	.	ENSG00000068028	ENST00000327761;ENST00000395126;ENST00000357043;ENST00000359365	T;T;T;T	0.77750	2.65;2.18;-1.12;-1.12	5.49	5.49	0.81192	SARAH (1);	0.000000	0.85682	D	0.000000	D	0.87822	0.6274	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.995	D;D;P	0.97110	0.987;1.0;0.905	D	0.88382	0.3002	10	0.72032	D	0.01	-30.2568	18.3174	0.90226	0.0:1.0:0.0:0.0	.	310;314;240	Q9NS23-2;Q9NS23;Q5TZT2	.;RASF1_HUMAN;.	P	240;159;314;310	ENSP00000333327:R240P;ENSP00000378558:R159P;ENSP00000349547:R314P;ENSP00000352323:R310P	ENSP00000333327:R240P	R	-	2	0	RASSF1	50343110	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.852000	0.55934	2.735000	0.93741	0.563000	0.77884	CGG	C|1.000;T|0.000		0.587	TUSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346399.1	NM_007275	
RAB6B	51560	hgsc.bcm.edu;bcgsc.ca	37	3	133560224	133560224	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr3:133560224T>C	ENST00000285208.4	-	4	543	c.194A>G	c.(193-195)cAg>cGg	p.Q65R	RAB6B_ENST00000543906.1_Missense_Mutation_p.Q65R|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000486858.1_Missense_Mutation_p.Q52R	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	65					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						GTCCCAGAGCTGCAGTCGCAC	0.652																																					p.Q65R		.											.	RAB6B	228	0			c.A194G						.						89.0	77.0	81.0					3																	133560224		2203	4300	6503	SO:0001583	missense	51560	exon4			CAGAGCTGCAGTC	AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"""RAB, member RAS oncogene"""	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.194A>G	3.37:g.133560224T>C	ENSP00000285208:p.Gln65Arg	83.0	0.0		84.0	4.0	NM_016577	B2R5Z9|B7Z337|D3DND3|Q92929	Missense_Mutation	SNP	ENST00000285208.4	37	CCDS3082.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543305	0.65198	.	.	ENSG00000154917	ENST00000285208;ENST00000543906;ENST00000486858;ENST00000477759;ENST00000460865;ENST00000488969	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	4.7	4.7	0.59300	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88220	0.6378	M	0.84156	2.68	0.80722	D	1	P;P	0.36048	0.534;0.491	B;P	0.58577	0.417;0.841	D	0.88946	0.3383	10	0.59425	D	0.04	-5.2834	13.444	0.61129	0.0:0.0:0.0:1.0	.	52;65	B7Z337;Q9NRW1	.;RAB6B_HUMAN	R	65;65;52;32;11;32	ENSP00000285208:Q65R;ENSP00000437797:Q65R;ENSP00000419381:Q52R;ENSP00000419941:Q32R;ENSP00000419526:Q11R;ENSP00000417433:Q32R	ENSP00000285208:Q65R	Q	-	2	0	RAB6B	135042914	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.339000	0.79282	1.868000	0.54150	0.379000	0.24179	CAG	.		0.652	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1		
RB1	5925	broad.mit.edu;bcgsc.ca	37	13	48939032	48939033	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	-	-	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr13:48939032_48939033insA	ENST00000267163.4	+	9	1002_1003	c.864_865insA	c.(865-867)aaafs	p.K289fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	289					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTTTTCAGGTGAAAAATGTTTA	0.287		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																											p.V288fs		.	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	.	RB1	3784	22	Whole gene deletion(15)|Unknown(7)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	c.864_865insA						.																																			SO:0001589	frameshift_variant	5925	exon9	Familial Cancer Database		TCAGGTGAAAAAT	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.869dupA	13.37:g.48939037_48939037dupA	ENSP00000267163:p.Lys289fs	465.0	0.0		230.0	114.0	NM_000321	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Ins	INS	ENST00000267163.4	37	CCDS31973.1																																																																																			.		0.287	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
RBL2	5934	ucsc.edu;bcgsc.ca	37	16	53504485	53504485	+	Silent	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr16:53504485A>G	ENST00000262133.6	+	16	2573	c.2436A>G	c.(2434-2436)ccA>ccG	p.P812P	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	812	Pocket; binds E1A.|Spacer.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGATTTCCCCAGGTGGCCAAC	0.498																																					p.P812P		.											.	RBL2	841	0			c.A2436G						.						87.0	88.0	88.0					16																	53504485		2198	4300	6498	SO:0001819	synonymous_variant	5934	exon16			TTCCCCAGGTGGC	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2436A>G	16.37:g.53504485A>G		107.0	0.0		41.0	4.0	NM_005611	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	37	CCDS10748.1																																																																																			.		0.498	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611	
RESP18	389075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	220194423	220194423	+	Missense_Mutation	SNP	C	C	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:220194423C>A	ENST00000333527.5	-	4	400	c.401G>T	c.(400-402)aGa>aTa	p.R134I	RESP18_ENST00000392083.1_Missense_Mutation_p.R10I	NM_001007089.3	NP_001007090.3	Q5W5W9	RES18_HUMAN	regulated endocrine-specific protein 18	92					in utero embryonic development (GO:0001701)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|rough endoplasmic reticulum lumen (GO:0048237)|secretory granule (GO:0030141)				endometrium(1)|prostate(1)	2						GGGATGCAGTCTGCTGGCATG	0.522																																					p.R134I		.											.	RESP18	90	0			c.G401T						.						146.0	125.0	131.0					2																	220194423		692	1591	2283	SO:0001583	missense	389075	exon4			TGCAGTCTGCTGG	AF437883	CCDS33382.2	2q35	2012-12-07	2012-12-07		ENSG00000182698	ENSG00000182698			33762	protein-coding gene	gene with protein product		612721	"""regulated endocrine-specific protein 18 homolog (rat)"""			17951542, 7988462	Standard	NM_001007089		Approved		uc002vlc.4	Q5W5W9	OTTHUMG00000150223	ENST00000333527.5:c.401G>T	2.37:g.220194423C>A	ENSP00000330269:p.Arg134Ile	150.0	0.0		145.0	44.0	NM_001007089	A8MQ49|Q38I23|Q5W5X0	Missense_Mutation	SNP	ENST00000333527.5	37	CCDS33382.2	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700907	0.30142	.	.	ENSG00000182698	ENST00000392083;ENST00000333527	.	.	.	3.1	2.13	0.27403	.	0.192755	0.25792	N	0.028261	T	0.52933	0.1765	M	0.72894	2.215	0.26033	N	0.981717	D;D	0.67145	0.996;0.996	P;P	0.61592	0.891;0.891	T	0.42155	-0.9468	9	0.87932	D	0	.	5.3713	0.16140	0.0:0.8193:0.0:0.1807	.	134;74	Q5W5W9-2;Q5W5W9-3	.;.	I	10;134	.	ENSP00000330269:R134I	R	-	2	0	RESP18	219902667	0.032000	0.19561	0.199000	0.23439	0.321000	0.28281	0.674000	0.25218	0.751000	0.32900	0.313000	0.20887	AGA	.		0.522	RESP18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316885.1	NM_001007089	
RGL2	5863	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	33261661	33261661	+	Silent	SNP	G	G	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr6:33261661G>C	ENST00000497454.1	-	13	1914	c.1419C>G	c.(1417-1419)ctC>ctG	p.L473L	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Silent_p.L430L|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	473	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ATTCATTCTGGAGCCGTCGCA	0.577																																					p.L473L		.											.	RGL2	662	0			c.C1419G						.						92.0	100.0	97.0					6																	33261661		2203	4300	6503	SO:0001819	synonymous_variant	5863	exon13			ATTCTGGAGCCGT		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1419C>G	6.37:g.33261661G>C		105.0	0.0		95.0	37.0	NM_004761	B4DG72|Q5STK0|Q9Y3F3	Silent	SNP	ENST00000497454.1	37	CCDS4774.1																																																																																			.		0.577	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2		
RIN3	79890	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	93118696	93118696	+	Silent	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr14:93118696G>A	ENST00000216487.7	+	6	1461	c.1302G>A	c.(1300-1302)caG>caA	p.Q434Q	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	434	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGCAAGGCCAGGACACAGAGG	0.662																																					p.Q434Q		.											.	RIN3	522	0			c.G1302A						.						82.0	94.0	90.0					14																	93118696		2203	4300	6503	SO:0001819	synonymous_variant	79890	exon6			AGGCCAGGACACA	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1302G>A	14.37:g.93118696G>A		164.0	0.0		116.0	36.0	NM_024832	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	CCDS32144.1																																																																																			.		0.662	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1		
RLN2	6019	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	5300172	5300172	+	Missense_Mutation	SNP	G	G	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr9:5300172G>T	ENST00000381627.3	-	2	872	c.484C>A	c.(484-486)Caa>Aaa	p.Q162K	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	162					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTGTAGAGTTGTCTCTTTTTT	0.378																																					p.Q162K		.											.	RLN2	90	0			c.C484A						.						118.0	114.0	115.0					9																	5300172		2203	4300	6503	SO:0001583	missense	6019	exon2			AGAGTTGTCTCTT		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.484C>A	9.37:g.5300172G>T	ENSP00000371040:p.Gln162Lys	385.0	1.0		315.0	108.0	NM_134441	A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Missense_Mutation	SNP	ENST00000381627.3	37	CCDS6460.1	.	.	.	.	.	.	.	.	.	.	G	4.019	0.000985	0.07819	.	.	ENSG00000107014	ENST00000381627	T	0.48522	0.81	3.24	-6.48	0.01896	Insulin-like (4);	4.509240	0.00633	N	0.000484	T	0.33585	0.0868	L	0.53249	1.67	0.09310	N	1	B	0.32717	0.381	B	0.30572	0.117	T	0.29305	-1.0016	10	0.10636	T	0.68	.	2.8234	0.05478	0.1732:0.447:0.1542:0.2256	.	162	P04090	REL2_HUMAN	K	162	ENSP00000371040:Q162K	ENSP00000371040:Q162K	Q	-	1	0	RLN2	5290172	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.178000	0.03093	-2.255000	0.00696	-1.075000	0.02238	CAA	.		0.378	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441	
RPRD1B	58490	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	36687860	36687860	+	Missense_Mutation	SNP	G	G	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr20:36687860G>C	ENST00000373433.4	+	5	995	c.593G>C	c.(592-594)cGa>cCa	p.R198P		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	198					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						GCTACTGTCCGACAGAAAATT	0.433																																					p.R198P		.											.	RPRD1B	91	0			c.G593C						.						114.0	104.0	107.0					20																	36687860		2203	4300	6503	SO:0001583	missense	58490	exon5			CTGTCCGACAGAA	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.593G>C	20.37:g.36687860G>C	ENSP00000362532:p.Arg198Pro	164.0	0.0		156.0	54.0	NM_021215	Q1WDE7|Q6PKF4	Missense_Mutation	SNP	ENST00000373433.4	37	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408031	0.83340	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.53	4.59	0.56863	.	0.101356	0.64402	D	0.000007	T	0.79287	0.4420	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.82940	-0.0208	9	0.87932	D	0	-5.8843	13.6234	0.62150	0.0737:0.0:0.9263:0.0	.	198	Q9NQG5	RPR1B_HUMAN	P	198;80	.	ENSP00000362532:R198P	R	+	2	0	RPRD1B	36121274	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	9.657000	0.98554	1.581000	0.49865	-0.140000	0.14226	CGA	.		0.433	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215	
RTKN2	219790	broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	63999451	63999451	+	Silent	SNP	C	C	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr10:63999451C>A	ENST00000373789.3	-	5	540	c.444G>T	c.(442-444)gtG>gtT	p.V148V	RTKN2_ENST00000395260.3_Silent_p.V148V|RTKN2_ENST00000395265.1_Silent_p.V148V	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	148					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TTGTTTTATCCACATTCACCA	0.269																																					p.V148V		.											.	RTKN2	68	0			c.G444T						.						45.0	39.0	41.0					10																	63999451		2202	4292	6494	SO:0001819	synonymous_variant	219790	exon5			TTTATCCACATTC	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.444G>T	10.37:g.63999451C>A		346.0	0.0		415.0	21.0	NM_145307	Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	ENST00000373789.3	37	CCDS7263.1																																																																																			.		0.269	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307	
ZBED9	114821	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	28543241	28543241	+	Missense_Mutation	SNP	G	G	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr6:28543241G>C	ENST00000452236.2	-	3	1858	c.1241C>G	c.(1240-1242)cCt>cGt	p.P414R	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AACTTCCGTAGGCCTTTTAGA	0.388																																					p.P414R		.											.	SCAND3	91	0			c.C1241G						.						43.0	46.0	45.0					6																	28543241		2198	4300	6498	SO:0001583	missense	114821	exon3			TCCGTAGGCCTTT																												ENST00000452236.2:c.1241C>G	6.37:g.28543241G>C	ENSP00000395259:p.Pro414Arg	186.0	0.0		83.0	36.0	NM_052923		Missense_Mutation	SNP	ENST00000452236.2	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	8.848	0.943883	0.18281	.	.	ENSG00000232040	ENST00000452236	T	0.40756	1.02	3.45	2.48	0.30137	Integrase, catalytic core (2);Ribonuclease H-like (1);	.	.	.	.	T	0.21387	0.0515	L	0.50333	1.59	0.09310	N	1	B	0.34015	0.435	B	0.33196	0.159	T	0.14117	-1.0484	9	0.66056	D	0.02	.	10.5347	0.44996	0.0:0.199:0.801:0.0	.	414	Q6R2W3	SCND3_HUMAN	R	414	ENSP00000395259:P414R	ENSP00000395259:P414R	P	-	2	0	SCAND3	28651220	0.016000	0.18221	0.029000	0.17559	0.263000	0.26337	1.711000	0.37930	1.935000	0.56089	0.655000	0.94253	CCT	.		0.388	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3		
SCN10A	6336	hgsc.bcm.edu;bcgsc.ca	37	3	38812863	38812863	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr3:38812863A>G	ENST00000449082.2	-	4	505	c.506T>C	c.(505-507)tTg>tCg	p.L169S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	169					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TATCTTTATCAAGGCTTCAAA	0.453																																					p.L169S		.											.	SCN10A	99	0			c.T506C						.						125.0	123.0	124.0					3																	38812863		2203	4300	6503	SO:0001583	missense	6336	exon4			TTTATCAAGGCTT	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.506T>C	3.37:g.38812863A>G	ENSP00000390600:p.Leu169Ser	103.0	0.0		90.0	5.0	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.163203	0.38217	.	.	ENSG00000185313	ENST00000449082	D	0.98901	-5.22	5.15	4.0	0.46444	Ion transport (1);	0.186924	0.23656	N	0.045865	D	0.97990	0.9338	M	0.87328	2.875	0.19945	N	0.999949	B	0.20368	0.044	B	0.24701	0.055	D	0.95523	0.8596	10	0.72032	D	0.01	.	10.782	0.46384	0.9249:0.0:0.0751:0.0	.	169	Q9Y5Y9	SCNAA_HUMAN	S	169	ENSP00000390600:L169S	ENSP00000390600:L169S	L	-	2	0	SCN10A	38787867	0.402000	0.25311	0.977000	0.42913	0.919000	0.55068	3.116000	0.50399	0.970000	0.38263	-0.274000	0.10170	TTG	.		0.453	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN3A	6328	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	166003251	166003251	+	Missense_Mutation	SNP	G	G	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:166003251G>T	ENST00000360093.3	-	12	2160	c.1669C>A	c.(1669-1671)Cag>Aag	p.Q557K	RN7SL455P_ENST00000580629.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.Q557K|SCN3A_ENST00000409101.3_Missense_Mutation_p.Q557K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	557					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATCATACCTGATGAGGGGAG	0.383																																					p.Q557K		.											.	SCN3A	141	0			c.C1669A						.						146.0	151.0	150.0					2																	166003251		2203	4300	6503	SO:0001583	missense	6328	exon12			ATACCTGATGAGG	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1669C>A	2.37:g.166003251G>T	ENSP00000353206:p.Gln557Lys	418.0	2.0		354.0	148.0	NM_001081676	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	G	18.30	3.593934	0.66219	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88	5.3	5.3	0.74995	Domain of unknown function DUF3451 (1);	0.215570	0.33040	N	0.005358	D	0.96417	0.8831	M	0.87180	2.865	0.80722	D	1	D;P;P;P;D	0.61697	0.99;0.911;0.954;0.954;0.976	P;D;D;D;P	0.67900	0.696;0.931;0.954;0.954;0.597	D	0.96637	0.9471	10	0.62326	D	0.03	.	18.3049	0.90177	0.0:0.0:1.0:0.0	.	557;557;557;557;557	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	K	557	ENSP00000353206:Q557K;ENSP00000283254:Q557K;ENSP00000386726:Q557K;ENSP00000403348:Q557K	ENSP00000283254:Q557K	Q	-	1	0	SCN3A	165711497	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	9.182000	0.94881	2.643000	0.89663	0.655000	0.94253	CAG	.		0.383	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
SLC22A23	63027	hgsc.bcm.edu;bcgsc.ca	37	6	3290023	3290023	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr6:3290023T>C	ENST00000406686.3	-	6	1287	c.1288A>G	c.(1288-1290)Aac>Gac	p.N430D	SLC22A23_ENST00000436008.2_Missense_Mutation_p.N430D|SLC22A23_ENST00000490273.1_Missense_Mutation_p.N149D|SLC22A23_ENST00000380302.4_Missense_Mutation_p.N149D|PSMG4_ENST00000451246.2_Intron	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	430					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				ACCACAATGTTCTTCCACAGG	0.582																																					p.N430D		.											.	SLC22A23	23	0			c.A1288G						.						165.0	125.0	138.0					6																	3290023		2203	4300	6503	SO:0001583	missense	63027	exon6			CAATGTTCTTCCA	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1288A>G	6.37:g.3290023T>C	ENSP00000385028:p.Asn430Asp	88.0	0.0		84.0	4.0	NM_015482	A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Missense_Mutation	SNP	ENST00000406686.3	37	CCDS47363.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613979	0.87359	.	.	ENSG00000137266	ENST00000436008;ENST00000406686;ENST00000380302;ENST00000490273;ENST00000485307;ENST00000467177	T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	4.33	4.33	0.51752	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.045545	0.85682	D	0.000000	T	0.71467	0.3343	L	0.43923	1.385	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.60286	0.872;0.872	T	0.71224	-0.4656	10	0.34782	T	0.22	-35.1252	13.9461	0.64086	0.0:0.0:0.0:1.0	.	430;430	C9J4Z0;A1A5C7	.;S22AN_HUMAN	D	430;430;149;149;258;256	ENSP00000410245:N430D;ENSP00000385028:N430D;ENSP00000369657:N149D;ENSP00000419463:N149D;ENSP00000418134:N258D;ENSP00000418985:N256D	ENSP00000369657:N149D	N	-	1	0	SLC22A23	3235022	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.353000	0.79414	1.942000	0.56320	0.459000	0.35465	AAC	.		0.582	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945	
SLC9C2	284525	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	173526509	173526509	+	Silent	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:173526509G>A	ENST00000367714.3	-	10	1607	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	SLC9C2_ENST00000536496.1_Silent_p.L293L|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	395					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.L395L(2)									TTCGTTCAGCGAGATTATAAA	0.348																																					p.L395L		.											.	.	.	2	Substitution - coding silent(2)	lung(2)	c.C1185T						.						107.0	118.0	114.0					1																	173526509		2203	4300	6503	SO:0001819	synonymous_variant	284525	exon10			TTCAGCGAGATTA	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1185C>T	1.37:g.173526509G>A		366.0	1.0		1002.0	105.0	NM_178527	Q86UF3	Silent	SNP	ENST00000367714.3	37	CCDS1308.1																																																																																			.		0.348	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
SNX15	29907	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	64806100	64806100	+	Missense_Mutation	SNP	T	T	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr11:64806100T>A	ENST00000377244.3	+	7	851	c.721T>A	c.(721-723)Tct>Act	p.S241T	SAC3D1_ENST00000398846.1_5'Flank|SNX15_ENST00000352068.5_Intron|RP11-399J13.3_ENST00000301886.3_3'UTR|SAC3D1_ENST00000531072.1_5'Flank	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	241					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						GGAGGTGGAGTCTGCAAGGCT	0.642																																					p.S241T	Esophageal Squamous(56;269 1304 3324 8253)	.											.	SNX15	227	0			c.T721A						.						32.0	32.0	32.0					11																	64806100		2201	4297	6498	SO:0001583	missense	29907	exon7			GTGGAGTCTGCAA	AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"""Sorting nexins"""	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.721T>A	11.37:g.64806100T>A	ENSP00000366452:p.Ser241Thr	138.0	1.0		132.0	44.0	NM_013306	E5KQS6|Q9NRS5	Missense_Mutation	SNP	ENST00000377244.3	37	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	T	0.363	-0.938352	0.02340	.	.	ENSG00000110025	ENST00000377244	T	0.25579	1.79	4.64	-7.41	0.01392	.	1.310530	0.04854	N	0.442797	T	0.10380	0.0254	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22836	-1.0205	10	0.14252	T	0.57	-4.2007	3.4693	0.07561	0.129:0.4474:0.261:0.1626	.	241;241	E5KQS5;Q9NRS6	.;SNX15_HUMAN	T	241	ENSP00000366452:S241T	ENSP00000366452:S241T	S	+	1	0	SNX15	64562676	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.921000	0.04008	-1.739000	0.01347	0.460000	0.39030	TCT	.		0.642	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3		
SOCS6	9306	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	67992658	67992658	+	Missense_Mutation	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr18:67992658G>A	ENST00000397942.3	+	2	1070	c.754G>A	c.(754-756)Gcg>Acg	p.A252T	SOCS6_ENST00000582322.1_Missense_Mutation_p.A252T	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	252					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GGAAGTCTCTGCGGTTCCTCC	0.537																																					p.A252T	Melanoma(84;1024 1361 24382 36583 42651)	.											.	SOCS6	721	0			c.G754A						.						93.0	77.0	82.0					18																	67992658		2203	4300	6503	SO:0001583	missense	9306	exon2			GTCTCTGCGGTTC	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.754G>A	18.37:g.67992658G>A	ENSP00000381034:p.Ala252Thr	209.0	0.0		201.0	71.0	NM_004232	Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	G	2.161	-0.392223	0.04932	.	.	ENSG00000170677	ENST00000397942	T	0.23147	1.92	5.25	3.3	0.37823	.	0.739566	0.12917	N	0.428480	T	0.06096	0.0158	N	0.01352	-0.895	0.31713	N	0.639251	B	0.02656	0.0	B	0.01281	0.0	T	0.41395	-0.9511	10	0.02654	T	1	-12.8814	3.1644	0.06530	0.2584:0.0:0.5299:0.2117	.	252	O14544	SOCS6_HUMAN	T	252	ENSP00000381034:A252T	ENSP00000381034:A252T	A	+	1	0	SOCS6	66143638	0.809000	0.29036	0.460000	0.27093	0.508000	0.34012	1.581000	0.36558	2.441000	0.82636	0.655000	0.94253	GCG	.		0.537	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2		
SPATS1	221409	broad.mit.edu;bcgsc.ca	37	6	44328192	44328192	+	Silent	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr6:44328192T>C	ENST00000288390.2	+	3	644	c.297T>C	c.(295-297)gcT>gcC	p.A99A	RP11-444E17.6_ENST00000505802.1_3'UTR|SPATS1_ENST00000323108.8_Silent_p.A99A			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	99										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCACCACTGCTGACTTGGATC	0.453																																					p.A99A		.											.	SPATS1	91	0			c.T297C						.						147.0	136.0	139.0					6																	44328192		2203	4300	6503	SO:0001819	synonymous_variant	221409	exon4			CACTGCTGACTTG	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.297T>C	6.37:g.44328192T>C		107.0	0.0		89.0	6.0	NM_145026	Q496A2|Q496A5|Q96LJ0	Silent	SNP	ENST00000288390.2	37	CCDS4911.1	.	.	.	.	.	.	.	.	.	.	T	0.438	-0.899759	0.02472	.	.	ENSG00000249481	ENST00000515220	.	.	.	5.63	-2.97	0.05530	.	.	.	.	.	T	0.08403	0.0209	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36138	-0.9760	4	.	.	.	.	4.6644	0.12659	0.2422:0.0:0.1828:0.575	.	.	.	.	P	133	.	.	L	+	2	0	SPATS1	44436170	0.000000	0.05858	0.010000	0.14722	0.023000	0.10783	-1.726000	0.01861	-0.144000	0.11314	-0.649000	0.03915	CTG	.		0.453	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026	
SPEN	23013	broad.mit.edu;ucsc.edu	37	1	16260812	16260812	+	Silent	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:16260812C>T	ENST00000375759.3	+	11	8281	c.8077C>T	c.(8077-8079)Ctg>Ttg	p.L2693L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2693	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGTGAACGTCCTGAAAGGGCC	0.597																																					p.L2693L		.											.	SPEN	298	0			c.C8077T						.						75.0	78.0	77.0					1																	16260812		2203	4300	6503	SO:0001819	synonymous_variant	23013	exon11			AACGTCCTGAAAG		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8077C>T	1.37:g.16260812C>T		54.0	0.0		21.0	3.0	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																			.		0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
SPTLC2	9517	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	78021725	78021725	+	Missense_Mutation	SNP	A	A	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr14:78021725A>T	ENST00000216484.2	-	8	1287	c.1094T>A	c.(1093-1095)cTg>cAg	p.L365Q	SPTLC2_ENST00000556264.1_5'Flank	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	365					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	CTCGGGATCCAGGCCAAAGTA	0.517																																					p.L365Q		.											.	SPTLC2	92	0			c.T1094A						.						124.0	127.0	126.0					14																	78021725		2203	4300	6503	SO:0001583	missense	9517	exon8			GGATCCAGGCCAA	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1094T>A	14.37:g.78021725A>T	ENSP00000216484:p.Leu365Gln	93.0	0.0		138.0	46.0	NM_004863	Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	CCDS9865.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.399185	0.83120	.	.	ENSG00000100596	ENST00000216484	D	0.92397	-3.03	4.89	4.89	0.63831	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.066401	0.64402	D	0.000008	D	0.95872	0.8656	M	0.84846	2.72	0.80722	D	1	P	0.52463	0.953	P	0.62649	0.905	D	0.96545	0.9403	10	0.87932	D	0	-11.4692	14.9721	0.71243	1.0:0.0:0.0:0.0	.	365	O15270	SPTC2_HUMAN	Q	365	ENSP00000216484:L365Q	ENSP00000216484:L365Q	L	-	2	0	SPTLC2	77091478	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	8.957000	0.93082	2.191000	0.70037	0.528000	0.53228	CTG	.		0.517	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863	
SRSF3	6428	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	36564637	36564637	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr6:36564637A>G	ENST00000373715.6	+	2	214	c.98A>G	c.(97-99)tAt>tGt	p.Y33C	SRSF3_ENST00000339436.7_Missense_Mutation_p.Y33C	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	33	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficiernt for interaction with NXF1.				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)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						TTTGGCTACTATGGACCACTC	0.478																																					p.Y33C		.											.	SRSF3	227	0			c.A98G						.						120.0	120.0	120.0					6																	36564637		2203	4300	6503	SO:0001583	missense	6428	exon2			GCTACTATGGACC	L10838	CCDS4823.1	6p21	2013-02-12	2010-06-22	2010-06-22	ENSG00000112081	ENSG00000112081		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10785	protein-coding gene	gene with protein product		603364	"""splicing factor, arginine/serine-rich 3"""	SFRS3		1577277, 20516191	Standard	NM_003017		Approved	SRp20	uc003omj.3	P84103	OTTHUMG00000014599	ENST00000373715.6:c.98A>G	6.37:g.36564637A>G	ENSP00000362820:p.Tyr33Cys	187.0	0.0		160.0	53.0	NM_003017	B4E241|O08831|P23152|Q5R3K0	Missense_Mutation	SNP	ENST00000373715.6	37	CCDS4823.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.907172	0.92107	.	.	ENSG00000112081	ENST00000373715;ENST00000339436	T;T	0.76709	2.17;-1.04	5.32	5.32	0.75619	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.112655	0.64402	D	0.000007	D	0.83427	0.5252	M	0.63428	1.95	0.80722	D	1	D;P	0.53462	0.96;0.951	P;D	0.70016	0.856;0.967	D	0.85868	0.1414	10	0.87932	D	0	.	15.5789	0.76418	1.0:0.0:0.0:0.0	.	33;33	B4E241;P84103	.;SRSF3_HUMAN	C	33	ENSP00000362820:Y33C;ENSP00000344762:Y33C	ENSP00000344762:Y33C	Y	+	2	0	SRSF3	36672615	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.140000	0.66376	0.459000	0.35465	TAT	.		0.478	SRSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040347.2	NM_003017	
ST6GAL2	84620	hgsc.bcm.edu;bcgsc.ca	37	2	107459744	107459744	+	Silent	SNP	G	G	A	rs144265287		TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:107459744G>A	ENST00000409382.3	-	2	1300	c.690C>T	c.(688-690)acC>acT	p.T230T	ST6GAL2_ENST00000409087.3_Silent_p.T230T|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Silent_p.T230T	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	230					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCTTGTTGGCGGTCAGGTAAT	0.672																																					p.T230T		.											.	ST6GAL2	191	0			c.C690T						.						27.0	28.0	28.0					2																	107459744		2202	4300	6502	SO:0001819	synonymous_variant	84620	exon2			GTTGGCGGTCAGG	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.690C>T	2.37:g.107459744G>A		31.0	0.0		51.0	4.0	NM_032528	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	CCDS2073.1																																																																																			G|1.000;C|0.000		0.672	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528	
SYNE2	23224	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	64596547	64596547	+	Silent	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr14:64596547G>A	ENST00000344113.4	+	75	14279	c.14067G>A	c.(14065-14067)gtG>gtA	p.V4689V	SYNE2_ENST00000554584.1_Silent_p.V4606V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.V1323V|SYNE2_ENST00000358025.3_Silent_p.V4689V|SYNE2_ENST00000357395.3_Silent_p.V1074V|SYNE2_ENST00000394768.2_Silent_p.V1074V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4689					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAGCCGAGTGGCCAAACTAA	0.433																																					p.V4689V		.											.	SYNE2	164	0			c.G14067A						.						131.0	131.0	131.0					14																	64596547		2203	4300	6503	SO:0001819	synonymous_variant	23224	exon75			CCGAGTGGCCAAA	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14067G>A	14.37:g.64596547G>A		124.0	0.0		117.0	45.0	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																			.		0.433	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
TACC2	10579	ucsc.edu;bcgsc.ca	37	10	123842397	123842397	+	Missense_Mutation	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr10:123842397G>A	ENST00000369005.1	+	4	722	c.382G>A	c.(382-384)Gca>Aca	p.A128T	TACC2_ENST00000453444.2_Missense_Mutation_p.A128T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.A128T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A128T|TACC2_ENST00000515273.1_Missense_Mutation_p.A128T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	128					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCAGCAGCGGCACCTGAAGA	0.652																																					p.A128T		.											.	TACC2	296	0			c.G382A						.						57.0	59.0	59.0					10																	123842397		2203	4300	6503	SO:0001583	missense	10579	exon4			GCAGCGGCACCTG	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.382G>A	10.37:g.123842397G>A	ENSP00000358001:p.Ala128Thr	76.0	0.0		39.0	4.0	NM_206862	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.41|12.41	1.928529|1.928529	0.34002|0.34002	.|.	.|.	ENSG00000138162|ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076|ENST00000491540	T;T;T;T;T|.	0.03301|.	4.0;3.98;3.98;4.0;3.98|.	5.23|5.23	2.35|2.35	0.29111|0.29111	.|.	0.542451|.	0.13963|.	N|.	0.350699|.	T|T	0.33265|0.33265	0.0857|0.0857	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.06405|.	0.002;0.002;0.002|.	T|T	0.20974|0.20974	-1.0259|-1.0259	10|5	0.66056|.	D|.	0.02|.	-0.2942|-0.2942	9.927|9.927	0.41498|0.41498	0.2505:0.0:0.7495:0.0|0.2505:0.0:0.7495:0.0	.|.	128;128;128|.	E9PBC6;E7EMZ9;O95359|.	.;.;TACC2_HUMAN|.	T|D	128;128;128;128;128;118|141	ENSP00000358001:A128T;ENSP00000424467:A128T;ENSP00000427618:A128T;ENSP00000334280:A128T;ENSP00000395048:A128T|.	ENSP00000334280:A128T|.	A|G	+|+	1|2	0|0	TACC2|TACC2	123832387|123832387	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.230000|0.230000	0.25150|0.25150	0.299000|0.299000	0.19138|0.19138	-0.011000|-0.011000	0.14247|0.14247	-1.222000|-1.222000	0.01597|0.01597	GCA|GGC	.		0.652	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
TBC1D9B	23061	hgsc.bcm.edu;bcgsc.ca	37	5	179320450	179320450	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr5:179320450A>G	ENST00000356834.3	-	5	632	c.595T>C	c.(595-597)Tgg>Cgg	p.W199R	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.W199R	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	199	GRAM 1.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGTCCACCCACTGCACCACG	0.607																																					p.W199R		.											.	TBC1D9B	154	0			c.T595C						.						92.0	75.0	81.0					5																	179320450		2203	4300	6503	SO:0001583	missense	23061	exon5			CCACCCACTGCAC	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.595T>C	5.37:g.179320450A>G	ENSP00000349291:p.Trp199Arg	64.0	0.0		72.0	4.0	NM_198868	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.693004	0.68271	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	D;D	0.87029	-2.2;-2.2	4.36	4.36	0.52297	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.94584	0.8255	M	0.92923	3.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95692	0.8741	10	0.87932	D	0	-11.1939	13.7011	0.62608	1.0:0.0:0.0:0.0	.	199;199;199	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	R	199	ENSP00000349291:W199R;ENSP00000347375:W199R	ENSP00000347375:W199R	W	-	1	0	TBC1D9B	179253056	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	9.047000	0.93823	1.841000	0.53522	0.260000	0.18958	TGG	.		0.607	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043	
TCF19	6941	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	31129627	31129627	+	Silent	SNP	G	G	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr6:31129627G>T	ENST00000376257.3	+	3	1396	c.642G>T	c.(640-642)acG>acT	p.T214T	TCF19_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Silent_p.T214T	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	214	Pro-rich.				cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TGGGGACCACGCCTTCTGCTC	0.627																																					p.T214T		.											.	TCF19	90	0			c.G642T						.						34.0	40.0	38.0					6																	31129627		1278	2538	3816	SO:0001819	synonymous_variant	6941	exon3			GACCACGCCTTCT	U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"""Zinc fingers, PHD-type"""	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.642G>T	6.37:g.31129627G>T		40.0	0.0		41.0	7.0	NM_001077511	A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Silent	SNP	ENST00000376257.3	37	CCDS43446.1																																																																																			.		0.627	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076595.2	NM_007109	
TCF21	6943	broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	134212868	134212868	+	Silent	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr6:134212868G>A	ENST00000367882.4	+	2	728	c.468G>A	c.(466-468)gtG>gtA	p.V156V	RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|TCF21_ENST00000237316.3_Silent_p.V156V|RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	156					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CCTTTATGGTGGCCGGGAAAC	0.627																																					p.V156V		.											.	TCF21	90	0			c.G468A						.						45.0	46.0	46.0					6																	134212868		2203	4300	6503	SO:0001819	synonymous_variant	6943	exon2			TATGGTGGCCGGG	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.468G>A	6.37:g.134212868G>A		53.0	0.0		55.0	24.0	NM_003206	E1P581|O43545|Q6ICV0|Q9BZ14	Silent	SNP	ENST00000367882.4	37	CCDS5167.1																																																																																			.		0.627	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392	
TGFB2	7042	hgsc.bcm.edu;bcgsc.ca	37	1	218578636	218578636	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:218578636A>G	ENST00000366930.4	+	2	939	c.472A>G	c.(472-474)Aaa>Gaa	p.K158E	TGFB2_ENST00000366929.4_Missense_Mutation_p.K186E	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	158					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GCAGAACCCAAAAGCCAGAGT	0.408																																					p.K186E		.											.	TGFB2	710	0			c.A556G						.						189.0	182.0	185.0					1																	218578636		2203	4300	6503	SO:0001583	missense	7042	exon3			AACCCAAAAGCCA	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.472A>G	1.37:g.218578636A>G	ENSP00000355897:p.Lys158Glu	135.0	0.0		61.0	4.0	NM_001135599	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.209081	0.39003	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.63913	-0.07;-0.07	5.09	5.09	0.68999	Transforming growth factor-beta, N-terminal (1);	0.239182	0.42964	D	0.000631	T	0.60327	0.2260	L	0.28556	0.865	0.44807	D	0.997815	B;B;D	0.59357	0.217;0.042;0.985	B;B;P	0.58013	0.138;0.103;0.831	T	0.56637	-0.7946	10	0.05721	T	0.95	.	14.9051	0.70711	1.0:0.0:0.0:0.0	.	186;158;187	P61812-2;P61812;Q59EG9	.;TGFB2_HUMAN;.	E	158;186	ENSP00000355897:K158E;ENSP00000355896:K186E	ENSP00000355896:K186E	K	+	1	0	TGFB2	216645259	1.000000	0.71417	0.802000	0.32245	0.960000	0.62799	4.886000	0.63149	1.916000	0.55485	0.528000	0.53228	AAA	.		0.408	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238	
TMEM131	23505	hgsc.bcm.edu;bcgsc.ca	37	2	98410005	98410005	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:98410005A>G	ENST00000186436.5	-	30	3626	c.3398T>C	c.(3397-3399)cTt>cCt	p.L1133P		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1133						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AATGACCAAAAGAAACAGTGC	0.438																																					p.L1133P		.											.	TMEM131	74	0			c.T3398C						.						34.0	34.0	34.0					2																	98410005		1830	4079	5909	SO:0001583	missense	23505	exon30			ACCAAAAGAAACA	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3398T>C	2.37:g.98410005A>G	ENSP00000186436:p.Leu1133Pro	107.0	0.0		104.0	7.0	NM_015348		Missense_Mutation	SNP	ENST00000186436.5	37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440541	0.83993	.	.	ENSG00000075568	ENST00000186436;ENST00000409721	T	0.39229	1.09	5.77	5.77	0.91146	.	0.061214	0.64402	D	0.000002	T	0.61813	0.2377	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	T	0.64668	-0.6353	10	0.87932	D	0	-14.6149	16.3948	0.83586	1.0:0.0:0.0:0.0	.	1133	Q92545	TM131_HUMAN	P	1133;50	ENSP00000186436:L1133P	ENSP00000186436:L1133P	L	-	2	0	TMEM131	97776437	1.000000	0.71417	0.938000	0.37757	0.993000	0.82548	8.678000	0.91211	2.326000	0.78906	0.533000	0.62120	CTT	.		0.438	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542	
TMEM64	169200	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	91643868	91643868	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr8:91643868A>G	ENST00000458549.2	-	2	1040	c.863T>C	c.(862-864)cTg>cCg	p.L288P	TMEM64_ENST00000418210.2_Intron|TMEM64_ENST00000519519.1_Missense_Mutation_p.L27P	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	288					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			GTAAGAATTCAGAAGCTGGGT	0.403																																					p.L288P		.											.	TMEM64	90	0			c.T863C						.						129.0	121.0	123.0					8																	91643868		2203	4300	6503	SO:0001583	missense	169200	exon2			GAATTCAGAAGCT	AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.863T>C	8.37:g.91643868A>G	ENSP00000414786:p.Leu288Pro	141.0	0.0		307.0	53.0	NM_001008495	B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Missense_Mutation	SNP	ENST00000458549.2	37	CCDS34920.2	.	.	.	.	.	.	.	.	.	.	A	26.7	4.763280	0.89932	.	.	ENSG00000180694	ENST00000458549;ENST00000519519;ENST00000521852	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.79191	0.4404	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81015	-0.1124	9	0.59425	D	0.04	.	16.0549	0.80794	1.0:0.0:0.0:0.0	.	27;288	Q6YI46-2;Q6YI46	.;TMM64_HUMAN	P	288;27;27	.	ENSP00000414786:L288P	L	-	2	0	TMEM64	91713044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.186000	0.94906	2.193000	0.70182	0.477000	0.44152	CTG	.		0.403	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	NM_001008495	
TMPRSS11B	132724	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	69097023	69097023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr4:69097023delG	ENST00000332644.5	-	7	745	c.584delC	c.(583-585)gcafs	p.A195fs		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	195	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.A195E(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CCATGGCCATGCCCCCTCCAG	0.493																																					p.A195fs		.											.	TMPRSS11B	91	1	Substitution - Missense(1)	skin(1)	c.584delC						.						81.0	81.0	81.0					4																	69097023		2203	4300	6503	SO:0001589	frameshift_variant	132724	exon7			GGCCATGCCCCCT	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.584delC	4.37:g.69097023delG	ENSP00000330475:p.Ala195fs	187.0	0.0		244.0	76.0	NM_182502	A8K4D9	Frame_Shift_Del	DEL	ENST00000332644.5	37	CCDS3521.1																																																																																			.		0.493	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502	
TRIM22	10346	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	5730736	5730736	+	Missense_Mutation	SNP	G	G	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr11:5730736G>A	ENST00000379965.3	+	8	1632	c.1355G>A	c.(1354-1356)gGc>gAc	p.G452D	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	452	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TATGAGGCAGGCATTGTCTCA	0.458																																					p.G452D	GBM(104;491 2336 5222)	.											.	TRIM22	90	0			c.G1355A						.						119.0	123.0	122.0					11																	5730736		2201	4297	6498	SO:0001583	missense	10346	exon8			AGGCAGGCATTGT	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1355G>A	11.37:g.5730736G>A	ENSP00000369299:p.Gly452Asp	314.0	0.0		321.0	83.0	NM_006074	Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.070098	0.36566	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000455293	T	0.71461	-0.57	3.74	1.8	0.24995	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.87116	0.6097	H	0.97440	4.005	0.09310	N	1	P;D;D	0.76494	0.873;0.999;0.999	P;D;D	0.76071	0.599;0.984;0.987	T	0.74657	-0.3592	9	0.51188	T	0.08	.	6.2793	0.20999	0.3456:0.0:0.6544:0.0	.	374;448;452	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	D	452;263;374	ENSP00000369299:G452D	ENSP00000369299:G452D	G	+	2	0	TRIM22	5687312	0.092000	0.21681	0.009000	0.14445	0.905000	0.53344	2.683000	0.46943	0.337000	0.23665	0.467000	0.42956	GGC	.		0.458	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074	
TRIM66	9866	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	8664672	8664672	+	Splice_Site	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr11:8664672A>G	ENST00000299550.6	-	8	865	c.671T>C	c.(670-672)aTt>aCt	p.I224T	TRIM66_ENST00000402157.2_Splice_Site_p.I222T|TRIM66_ENST00000531498.1_5'Flank	NM_014818.1	NP_055633.1	O15016	TRI66_HUMAN	tripartite motif containing 66	224						aggresome (GO:0016235)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|kidney(1)|lung(1)|skin(2)	9						CTGAAACACAATCTGACAACA	0.468																																					p.I224T		.											.	TRIM66	68	0			c.T671C						.						129.0	111.0	117.0					11																	8664672		692	1591	2283	SO:0001630	splice_region_variant	9866	exon8			AACACAATCTGAC	AB002296		11p15.4	2013-01-28	2011-01-25		ENSG00000166436	ENSG00000166436		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"""	29005	protein-coding gene	gene with protein product		612000	"""chromosome 11 open reading frame 29"", ""tripartite motif-containing 66"""	C11orf29		9205841	Standard	NM_014818		Approved	KIAA0298, TIF1D	uc010rbo.2	O15016	OTTHUMG00000150481	ENST00000299550.6:c.670-1T>C	11.37:g.8664672A>G		53.0	0.0		30.0	14.0	NM_014818	Q9BQQ4	Missense_Mutation	SNP	ENST00000299550.6	37		.	.	.	.	.	.	.	.	.	.	A	20.4	3.978817	0.74360	.	.	ENSG00000166436	ENST00000299550;ENST00000402157	T;T	0.18338	2.22;2.22	4.27	4.27	0.50696	B-box, C-terminal (1);	0.000000	0.44097	D	0.000499	T	0.40272	0.1110	M	0.73217	2.22	0.40792	D	0.983265	D	0.76494	0.999	D	0.81914	0.995	T	0.41998	-0.9477	10	0.87932	D	0	-10.5991	13.6772	0.62460	1.0:0.0:0.0:0.0	.	224	O15016	TRI66_HUMAN	T	224;222	ENSP00000299550:I224T;ENSP00000384876:I222T	ENSP00000299550:I224T	I	-	2	0	TRIM66	8621248	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.301000	0.89951	1.694000	0.51137	0.459000	0.35465	ATT	.		0.468	TRIM66-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_084529	Missense_Mutation
TRIO	7204	hgsc.bcm.edu;bcgsc.ca	37	5	14474101	14474101	+	Splice_Site	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr5:14474101A>G	ENST00000344204.4	+	40	6003		c.e40-1		TRIO_ENST00000537187.1_Splice_Site	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTTTAATTGTAGGGCTACATG	0.383																																					.		.											.	TRIO	562	0			c.5980-2A>G						.						136.0	116.0	123.0					5																	14474101		2203	4300	6503	SO:0001630	splice_region_variant	7204	exon40			AATTGTAGGGCTA	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5980-1A>G	5.37:g.14474101A>G		110.0	0.0		92.0	4.0	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Splice_Site	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.491429	0.64074	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000541447	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4933	0.75629	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIO	14527101	1.000000	0.71417	0.911000	0.35937	0.885000	0.51271	9.221000	0.95188	2.064000	0.61679	0.460000	0.39030	.	.		0.383	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	Intron
TRIO	7204	hgsc.bcm.edu;bcgsc.ca	37	5	14502746	14502746	+	Silent	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr5:14502746T>C	ENST00000344204.4	+	54	8415	c.8391T>C	c.(8389-8391)agT>agC	p.S2797S	TRIO_ENST00000537187.1_Silent_p.S2621S|TRIO_ENST00000344135.5_Silent_p.S296S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2797	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCTTCTACAGTGAAGTGGCTG	0.522																																					p.S2797S		.											.	TRIO	562	0			c.T8391C						.						141.0	112.0	122.0					5																	14502746		2203	4300	6503	SO:0001819	synonymous_variant	7204	exon54			CTACAGTGAAGTG	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8391T>C	5.37:g.14502746T>C		60.0	0.0		69.0	5.0	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	CCDS3883.1																																																																																			.		0.522	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	
TRIOBP	11078	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	38121089	38121089	+	Missense_Mutation	SNP	T	T	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr22:38121089T>A	ENST00000406386.3	+	7	2781	c.2526T>A	c.(2524-2526)gaT>gaA	p.D842E		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	842					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCAAACGAGATAACCTCAGAC	0.493																																					p.D842E		.											.	TRIOBP	136	0			c.T2526A						.						149.0	157.0	155.0					22																	38121089		2010	4180	6190	SO:0001583	missense	11078	exon7			ACGAGATAACCTC	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2526T>A	22.37:g.38121089T>A	ENSP00000384312:p.Asp842Glu	331.0	0.0		255.0	99.0	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.576907	0.28092	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19669	2.13	4.8	-3.37	0.04898	.	.	.	.	.	T	0.09113	0.0225	L	0.33485	1.01	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.41197	-0.9522	9	0.05833	T	0.94	.	0.428	0.00467	0.2398:0.2891:0.1767:0.2944	.	842	Q9H2D6	TARA_HUMAN	E	842	ENSP00000384312:D842E	ENSP00000384312:D842E	D	+	3	2	TRIOBP	36451035	0.033000	0.19621	0.000000	0.03702	0.027000	0.11550	-0.748000	0.04818	-0.527000	0.06374	0.378000	0.23410	GAT	.		0.493	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
TSEN34	79042	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	54697194	54697194	+	Missense_Mutation	SNP	C	C	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr19:54697194C>G	ENST00000396383.1	+	5	1221	c.910C>G	c.(910-912)Ctg>Gtg	p.L304V	TSEN34_ENST00000302937.4_Missense_Mutation_p.L304V|TSEN34_ENST00000396388.2_Missense_Mutation_p.L304V|TSEN34_ENST00000429671.2_Intron|CTD-3093M3.1_ENST00000594382.1_lincRNA			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	304					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTACACCTCCCTGCAATGGGC	0.587																																					p.L304V	Esophageal Squamous(37;841 964 4869 42824)	.											.	TSEN34	90	0			c.C910G						.						49.0	50.0	50.0					19																	54697194		2000	4164	6164	SO:0001583	missense	79042	exon5			ACCTCCCTGCAAT	AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"""tRNA splicing endonuclease subunits"""	15506	protein-coding gene	gene with protein product		608754	"""leukocyte receptor cluster (LRC) member 5"", ""tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)"", ""tRNA splicing endonuclease 34 homolog (S. cerevisiae)"""	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.910C>G	19.37:g.54697194C>G	ENSP00000379667:p.Leu304Val	127.0	0.0		92.0	17.0	NM_024075	A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Missense_Mutation	SNP	ENST00000396383.1	37	CCDS42609.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352768	0.61293	.	.	ENSG00000170892	ENST00000302937;ENST00000396383;ENST00000396388	T;T;T	0.64438	-0.1;-0.1;-0.1	5.33	4.3	0.51218	tRNA intron endonuclease, catalytic domain-like (1);Endonuclease TnsA, N-terminal/resolvase Hjc/tRNA endonuclease, C-terminal (1);	27.255300	0.00397	N	0.000057	T	0.66046	0.2750	L	0.31207	0.915	0.80722	D	1	D	0.63880	0.993	P	0.59487	0.858	T	0.60203	-0.7309	10	0.15952	T	0.53	.	7.7602	0.28948	0.0:0.7513:0.0:0.2487	.	304	Q9BSV6	SEN34_HUMAN	V	304	ENSP00000305524:L304V;ENSP00000379667:L304V;ENSP00000379671:L304V	ENSP00000305524:L304V	L	+	1	2	TSEN34	59389006	0.762000	0.28451	1.000000	0.80357	0.997000	0.91878	0.517000	0.22832	1.394000	0.46624	0.591000	0.81541	CTG	.		0.587	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142200.1	NM_024075	
TTC4	7268	hgsc.bcm.edu;bcgsc.ca	37	1	55194027	55194027	+	Silent	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:55194027A>G	ENST00000371281.3	+	6	690	c.603A>G	c.(601-603)gaA>gaG	p.E201E	TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	201										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AGCGAATTGAACAGAGGGATG	0.418																																					p.E201E		.											.	TTC4	90	0			c.A603G						.						96.0	97.0	97.0					1																	55194027		2203	4300	6503	SO:0001819	synonymous_variant	7268	exon6			AATTGAACAGAGG		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"""Tetratricopeptide (TTC) repeat domain containing"""	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.603A>G	1.37:g.55194027A>G		72.0	0.0		165.0	7.0	NM_004623	Q53Y95|Q5TA96|Q9H3I2	Silent	SNP	ENST00000371281.3	37	CCDS596.1																																																																																			.		0.418	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623	
TXNL1	9352	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	54293689	54293689	+	Splice_Site	SNP	C	C	A			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr18:54293689C>A	ENST00000217515.6	-	2	303		c.e2-1		TXNL1_ENST00000590954.1_Splice_Site|TXNL1_ENST00000540155.1_Splice_Site	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1						cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TGGCCCACACCTGTTAGAAAA	0.363																																					.		.											.	TXNL1	90	0			c.99-1G>T						.						91.0	94.0	93.0					18																	54293689		2203	4300	6503	SO:0001630	splice_region_variant	9352	exon3			CCACACCTGTTAG	AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"""thioredoxin-like, 32kD"""	603049	"""thioredoxin-like, 32kDa"""	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.99-1G>T	18.37:g.54293689C>A		215.0	0.0		227.0	73.0	NM_004786		Splice_Site	SNP	ENST00000217515.6	37	CCDS11961.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063522	0.36373	.	.	ENSG00000091164	ENST00000217515	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1139	0.93330	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TXNL1	52444687	1.000000	0.71417	0.985000	0.45067	0.077000	0.17291	7.208000	0.77907	2.621000	0.88768	0.655000	0.94253	.	.		0.363	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2		Intron
UBR4	23352	hgsc.bcm.edu;bcgsc.ca	37	1	19518865	19518865	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr1:19518865T>C	ENST00000375254.3	-	11	1238	c.1211A>G	c.(1210-1212)cAg>cGg	p.Q404R	UBR4_ENST00000375226.2_Missense_Mutation_p.Q404R|UBR4_ENST00000375217.2_Missense_Mutation_p.Q404R|UBR4_ENST00000375267.2_Missense_Mutation_p.Q404R	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	404					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTGGAAATTCTGATAGTGCTG	0.413																																					p.Q404R		.											.	UBR4	612	0			c.A1211G						.						75.0	77.0	76.0					1																	19518865		2203	4300	6503	SO:0001583	missense	23352	exon11			AAATTCTGATAGT	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.1211A>G	1.37:g.19518865T>C	ENSP00000364403:p.Gln404Arg	114.0	0.0		64.0	4.0	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.337165	0.81911	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.34072	1.41;1.41;1.39;1.38	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	L	0.50333	1.59	0.80722	D	1	P	0.45126	0.851	P	0.55391	0.775	T	0.50890	-0.8774	10	0.87932	D	0	.	14.6068	0.68486	0.0:0.0:0.0:1.0	.	404	Q5T4S7	UBR4_HUMAN	R	404	ENSP00000364403:Q404R;ENSP00000364416:Q404R;ENSP00000364365:Q404R;ENSP00000364374:Q404R	ENSP00000364365:Q404R	Q	-	2	0	UBR4	19391452	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.649000	0.83500	2.125000	0.65367	0.482000	0.46254	CAG	.		0.413	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
USHBP1	83878	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	17373479	17373479	+	Missense_Mutation	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr19:17373479C>T	ENST00000252597.3	-	4	697	c.524G>A	c.(523-525)cGc>cAc	p.R175H	USHBP1_ENST00000431146.2_Missense_Mutation_p.R111H|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTCGGCCAGGCGAGCTGCCTC	0.662																																					p.R175H		.											.	USHBP1	91	0			c.G524A						.						41.0	41.0	41.0					19																	17373479		2203	4298	6501	SO:0001583	missense	83878	exon4			GCCAGGCGAGCTG	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.524G>A	19.37:g.17373479C>T	ENSP00000252597:p.Arg175His	73.0	0.0		26.0	17.0	NM_031941		Missense_Mutation	SNP	ENST00000252597.3	37	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	9.877	1.200431	0.22121	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.17854	2.25;2.25	3.96	0.448	0.16614	.	0.759577	0.11771	N	0.531158	T	0.10035	0.0246	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19331	0.013;0.035;0.013	B;B;B	0.10450	0.005;0.002;0.005	T	0.29027	-1.0025	10	0.51188	T	0.08	-2.749	6.4397	0.21843	0.0:0.6602:0.0:0.3398	.	111;175;175	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	H	175;111;175	ENSP00000252597:R175H;ENSP00000407902:R111H	ENSP00000252597:R175H	R	-	2	0	USHBP1	17234479	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-0.200000	0.09478	-0.020000	0.14032	0.467000	0.42956	CGC	.		0.662	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941	
USP40	55230	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	234431822	234431822	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:234431822T>C	ENST00000427112.2	-	15	2227	c.2192A>G	c.(2191-2193)gAt>gGt	p.D731G	USP40_ENST00000450966.1_Missense_Mutation_p.D743G|USP40_ENST00000251722.6_Missense_Mutation_p.D731G			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	731					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TTACCTGTTATCATCATGAGA	0.413																																					p.D743G		.											.	USP40	455	0			c.A2228G						.						115.0	109.0	111.0					2																	234431822		1869	4103	5972	SO:0001583	missense	55230	exon15			CTGTTATCATCAT	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2192A>G	2.37:g.234431822T>C	ENSP00000387898:p.Asp731Gly	296.0	1.0		285.0	87.0	NM_018218	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.690165	0.48097	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000452724	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.34	1.54	0.23209	.	1.280080	0.05176	N	0.500487	T	0.30572	0.0769	L	0.31294	0.92	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.11329	0.004;0.006	T	0.23048	-1.0199	10	0.38643	T	0.18	.	4.4739	0.11726	0.0:0.2863:0.1809:0.5328	.	731;743	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	G	743;731;731;26	ENSP00000415434:D743G;ENSP00000251722:D731G;ENSP00000387898:D731G;ENSP00000408853:D26G	ENSP00000251722:D731G	D	-	2	0	USP40	234096561	0.000000	0.05858	0.009000	0.14445	0.922000	0.55478	-0.542000	0.06091	0.379000	0.24794	0.533000	0.62120	GAT	.		0.413	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294	
UTRN	7402	ucsc.edu;bcgsc.ca	37	6	145093056	145093056	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr6:145093056A>G	ENST00000367545.3	+	58	8509	c.8509A>G	c.(8509-8511)Acc>Gcc	p.T2837A	UTRN_ENST00000367526.4_Missense_Mutation_p.T392A	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2837	Interaction with SYNM.|WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCAAACACAGACCACCTGTTG	0.318																																					p.T2837A		.											.	UTRN	95	0			c.A8509G						.						64.0	69.0	67.0					6																	145093056		2203	4300	6503	SO:0001583	missense	7402	exon58			ACACAGACCACCT	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8509A>G	6.37:g.145093056A>G	ENSP00000356515:p.Thr2837Ala	59.0	0.0		46.0	5.0	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.107002	0.77096	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	D;D	0.83914	-1.78;-1.78	5.66	4.46	0.54185	WW/Rsp5/WWP (6);	0.000000	0.51477	D	0.000083	D	0.86948	0.6056	M	0.83483	2.645	0.43381	D	0.99548	P	0.37864	0.61	P	0.52672	0.706	D	0.89092	0.3483	10	0.87932	D	0	.	12.1455	0.54022	0.8721:0.0:0.0:0.1279	.	2837	P46939	UTRO_HUMAN	A	2837;392	ENSP00000356515:T2837A;ENSP00000356496:T392A	ENSP00000356496:T392A	T	+	1	0	UTRN	145134749	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.851000	0.75425	2.153000	0.67306	0.460000	0.39030	ACC	.		0.318	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
VCAN	1462	hgsc.bcm.edu;bcgsc.ca	37	5	82807955	82807955	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr5:82807955T>C	ENST00000265077.3	+	6	1347	c.782T>C	c.(781-783)tTc>tCc	p.F261S	VCAN_ENST00000343200.5_Missense_Mutation_p.F261S|VCAN_ENST00000502527.2_Missense_Mutation_p.F261S|VCAN_ENST00000342785.4_Missense_Mutation_p.F261S|VCAN_ENST00000513984.1_Missense_Mutation_p.F261S|VCAN_ENST00000512590.2_Missense_Mutation_p.F213S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	261	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CCCAGTAAATTCACCTTCGAG	0.473																																					p.F261S		.											.	VCAN	238	0			c.T782C						.						57.0	55.0	55.0					5																	82807955		2203	4300	6503	SO:0001583	missense	1462	exon6			GTAAATTCACCTT	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.782T>C	5.37:g.82807955T>C	ENSP00000265077:p.Phe261Ser	59.0	0.0		65.0	5.0	NM_004385	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.470943	0.63625	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.09163	3.01;3.01;3.01;3.01;3.01;3.01;3.01	5.49	5.49	0.81192	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.189449	0.31697	N	0.007216	T	0.31857	0.0810	M	0.67569	2.06	0.42692	D	0.993584	D;B;D;D;P	0.76494	0.995;0.145;0.999;0.993;0.7	D;B;D;D;P	0.75020	0.942;0.164;0.943;0.985;0.532	T	0.03898	-1.0994	10	0.87932	D	0	.	15.5685	0.76313	0.0:0.0:0.0:1.0	.	261;261;261;261;261	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	S	261;261;261;213;261;261;261	ENSP00000265077:F261S;ENSP00000340062:F261S;ENSP00000342768:F261S;ENSP00000425959:F213S;ENSP00000426251:F261S;ENSP00000426715:F261S;ENSP00000421362:F261S	ENSP00000265077:F261S	F	+	2	0	VCAN	82843711	0.999000	0.42202	0.976000	0.42696	0.035000	0.12851	7.992000	0.88273	2.078000	0.62432	0.460000	0.39030	TTC	.		0.473	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VWA3B	200403	hgsc.bcm.edu;bcgsc.ca	37	2	98750292	98750292	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:98750292A>G	ENST00000477737.1	+	7	1082	c.878A>G	c.(877-879)cAc>cGc	p.H293R	VWA3B_ENST00000451075.2_Missense_Mutation_p.H143R|VWA3B_ENST00000435344.1_Missense_Mutation_p.H293R	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	293										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCAGATTCCACGCATTTGCC	0.473																																					p.H293R		.											.	VWA3B	139	0			c.A878G						.						284.0	269.0	274.0					2																	98750292		2100	4230	6330	SO:0001583	missense	200403	exon7			GATTCCACGCATT	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.878A>G	2.37:g.98750292A>G	ENSP00000417955:p.His293Arg	89.0	0.0		78.0	4.0	NM_144992	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.704507	0.48412	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.49720	7.42;7.42;0.77	5.66	5.66	0.87406	.	0.088339	0.48767	D	0.000172	T	0.69700	0.3140	M	0.80982	2.52	0.35522	D	0.801546	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.988;0.959;0.996	T	0.80384	-0.1405	10	0.87932	D	0	.	13.4291	0.61044	1.0:0.0:0.0:0.0	.	143;293;293	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	R	293;293;143	ENSP00000401959:H293R;ENSP00000417955:H293R;ENSP00000389463:H143R	ENSP00000411168:H293R	H	+	2	0	VWA3B	98116724	0.999000	0.42202	0.921000	0.36526	0.045000	0.14185	5.314000	0.65804	2.154000	0.67381	0.533000	0.62120	CAC	.		0.473	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992	
WDFY1	57590	hgsc.bcm.edu;bcgsc.ca	37	2	224746759	224746759	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:224746759A>G	ENST00000233055.4	-	10	1066	c.964T>C	c.(964-966)Tgc>Cgc	p.C322R		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	322						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CACTTCCCGCAGACAGCCTGC	0.502																																					p.C322R		.											.	WDFY1	226	0			c.T964C						.						184.0	188.0	187.0					2																	224746759		2203	4300	6503	SO:0001583	missense	57590	exon10			TCCCGCAGACAGC	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.964T>C	2.37:g.224746759A>G	ENSP00000233055:p.Cys322Arg	58.0	0.0		72.0	4.0	NM_020830	Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.698483	0.88830	.	.	ENSG00000085449	ENST00000233055	D	0.93076	-3.16	5.9	5.9	0.94986	Zinc finger, RING/FYVE/PHD-type (1);WD40 repeat-like-containing domain (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.98194	0.9403	H	0.99475	4.585	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99929	1.1307	10	0.17369	T	0.5	-20.6731	16.3322	0.83039	1.0:0.0:0.0:0.0	.	322	Q8IWB7	WDFY1_HUMAN	R	322	ENSP00000233055:C322R	ENSP00000233055:C322R	C	-	1	0	WDFY1	224455003	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.958000	0.93099	2.251000	0.74343	0.528000	0.53228	TGC	.		0.502	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830	
WDR5B	54554	hgsc.bcm.edu;bcgsc.ca	37	3	122133628	122133628	+	Missense_Mutation	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr3:122133628C>T	ENST00000330689.4	-	1	1254	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	250										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		TTCTTATGACCAGTGTATGTT	0.373																																					p.G250S		.											.	WDR5B	93	0			c.G748A						.						107.0	110.0	109.0					3																	122133628		2203	4300	6503	SO:0001583	missense	54554	exon1			TATGACCAGTGTA	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.748G>A	3.37:g.122133628C>T	ENSP00000330381:p.Gly250Ser	169.0	0.0		114.0	5.0	NM_019069	B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152237	0.57259	.	.	ENSG00000196981	ENST00000330689	T	0.70045	-0.45	4.77	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.048353	0.85682	D	0.000000	T	0.65144	0.2663	M	0.74389	2.26	0.80722	D	1	P	0.43431	0.807	B	0.39805	0.31	T	0.71334	-0.4624	10	0.72032	D	0.01	.	10.7016	0.45931	0.1903:0.8097:0.0:0.0	.	250	Q86VZ2	WDR5B_HUMAN	S	250	ENSP00000330381:G250S	ENSP00000330381:G250S	G	-	1	0	WDR5B	123616318	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.797000	0.62503	2.644000	0.89710	0.561000	0.74099	GGT	.		0.373	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069	
WNK1	65125	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	1009715	1009715	+	Silent	SNP	A	A	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr12:1009715A>C	ENST00000315939.6	+	26	7165	c.6522A>C	c.(6520-6522)ccA>ccC	p.P2174P	WNK1_ENST00000537687.1_Silent_p.P2434P|WNK1_ENST00000340908.4_Silent_p.P1767P|WNK1_ENST00000535572.1_Silent_p.P1926P|WNK1_ENST00000530271.2_Silent_p.P2672P	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2174					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCAACATCCCAGAGTCCGGGC	0.537																																					p.P2434P	Colon(19;451 567 6672 12618 28860)	.											.	WNK1	916	0			c.A7302C						.						190.0	183.0	186.0					12																	1009715		2203	4300	6503	SO:0001819	synonymous_variant	65125	exon26			CATCCCAGAGTCC	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.6522A>C	12.37:g.1009715A>C		159.0	0.0		143.0	60.0	NM_001184985	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	CCDS8506.1																																																																																			.		0.537	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979	
XPO1	7514	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	61706090	61706090	+	Silent	SNP	A	A	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:61706090A>C	ENST00000401558.2	-	25	3808	c.3081T>G	c.(3079-3081)ggT>ggG	p.G1027G	RP11-355B11.2_ENST00000578974.2_RNA|RP11-355B11.2_ENST00000603028.1_RNA|XPO1_ENST00000404992.2_Silent_p.G1027G|RP11-355B11.2_ENST00000603652.1_RNA|XPO1_ENST00000406957.1_Silent_p.G1027G|RP11-355B11.2_ENST00000603199.1_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	1027					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AAGTGTCTTCACCTGCAAATT	0.373			Mis		CLL																																p.G1027G		.	-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	.	XPO1	229	0			c.T3081G						.						114.0	110.0	111.0					2																	61706090		2203	4300	6503	SO:0001819	synonymous_variant	7514	exon25			GTCTTCACCTGCA	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.3081T>G	2.37:g.61706090A>C		241.0	0.0		189.0	59.0	NM_003400	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Silent	SNP	ENST00000401558.2	37	CCDS33205.1																																																																																			.		0.373	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400	
ZDHHC9	51114	ucsc.edu;bcgsc.ca	37	X	128946713	128946713	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chrX:128946713T>C	ENST00000357166.6	-	8	1149	c.758A>G	c.(757-759)aAc>aGc	p.N253S	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.N253S	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	253					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						GGTTGTCTGGTTGAGAGCCAC	0.468																																					p.N253S		.											.	ZDHHC9	131	0			c.A758G						.						250.0	199.0	216.0					X																	128946713		2203	4300	6503	SO:0001583	missense	51114	exon7			GTCTGGTTGAGAG	AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.758A>G	X.37:g.128946713T>C	ENSP00000349689:p.Asn253Ser	43.0	0.0		42.0	4.0	NM_001008222	B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	ENST00000357166.6	37	CCDS35395.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.8|22.8	4.334456|4.334456	0.81801|0.81801	.|.	.|.	ENSG00000188706|ENSG00000188706	ENST00000357166;ENST00000371064|ENST00000433917	T;T|.	0.32515|.	1.45;1.45|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80974|0.80974	0.4727|0.4727	M|M	0.90483|0.90483	3.12|3.12	0.54753|0.54753	D|D	0.999989|0.999989	P|.	0.42961|.	0.795|.	P|.	0.48952|.	0.596|.	D|D	0.84875|0.84875	0.0827|0.0827	10|5	0.56958|.	D|.	0.05|.	-13.9472|-13.9472	14.2947|14.2947	0.66304|0.66304	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	253|.	Q9Y397|.	ZDHC9_HUMAN|.	S|A	253|167	ENSP00000349689:N253S;ENSP00000360103:N253S|.	ENSP00000349689:N253S|.	N|T	-|-	2|1	0|0	ZDHHC9|ZDHHC9	128774394|128774394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.698000|7.698000	0.84413|0.84413	1.835000|1.835000	0.53391|0.53391	0.417000|0.417000	0.27973|0.27973	AAC|ACC	.		0.468	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032	
ZNF112	7771	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	44833097	44833097	+	Missense_Mutation	SNP	C	C	T			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr19:44833097C>T	ENST00000337401.4	-	5	1319	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K	ZNF112_ENST00000354340.4_Missense_Mutation_p.E405K|ZNF112_ENST00000536500.1_Missense_Mutation_p.E428K	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGTTTCTCTTCAGTGTGGATT	0.343																																					p.E411K		.											.	ZFP112	95	0			c.G1231A						.						80.0	78.0	79.0					19																	44833097		2203	4300	6503	SO:0001583	missense	7771	exon5			TCTCTTCAGTGTG	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1231G>A	19.37:g.44833097C>T	ENSP00000337081:p.Glu411Lys	223.0	0.0		153.0	50.0	NM_001083335	A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887053	0.52014	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.15256	2.44;2.44;2.44	4.73	3.7	0.42460	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.259797	0.20255	N	0.095990	T	0.13329	0.0323	L	0.28740	0.885	0.31000	N	0.720403	B;B;B	0.23806	0.055;0.091;0.055	B;B;B	0.17433	0.008;0.018;0.008	T	0.06023	-1.0850	10	0.51188	T	0.08	-3.6797	12.2689	0.54695	0.0:0.9153:0.0:0.0847	.	410;428;411	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	K	411;411;405;428;410	ENSP00000337081:E411K;ENSP00000346305:E405K;ENSP00000441990:E428K	ENSP00000253426:E410K	E	-	1	0	ZNF285	49524937	0.002000	0.14202	0.546000	0.28166	0.719000	0.41307	1.727000	0.38095	1.358000	0.45922	-0.258000	0.10820	GAA	.		0.343	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380	
ZFR	51663	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	32444759	32444759	+	Missense_Mutation	SNP	A	A	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr5:32444759A>C	ENST00000265069.8	-	1	108	c.6T>G	c.(4-6)atT>atG	p.I2M		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	2					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GGCATATGGGAATCATGGGCT	0.672																																					p.I2M		.											.	ZFR	90	0			c.T6G						.						79.0	79.0	79.0					5																	32444759		2195	4290	6485	SO:0001583	missense	51663	exon1			TATGGGAATCATG	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.6T>G	5.37:g.32444759A>C	ENSP00000265069:p.Ile2Met	223.0	0.0		326.0	36.0	NM_016107	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.397754	0.62177	.	.	ENSG00000056097	ENST00000265069;ENST00000416900	T	0.07021	3.23	4.59	4.59	0.56863	.	0.064020	0.64402	D	0.000009	T	0.08537	0.0212	N	0.22421	0.69	0.52099	D	0.999945	P;B	0.38565	0.637;0.232	B;B	0.41813	0.367;0.147	T	0.19031	-1.0318	10	0.87932	D	0	.	12.5026	0.55964	1.0:0.0:0.0:0.0	.	2;2	B2RNR6;Q96KR1	.;ZFR_HUMAN	M	2	ENSP00000265069:I2M	ENSP00000265069:I2M	I	-	3	3	ZFR	32480516	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.867000	0.75511	1.822000	0.53115	0.454000	0.30748	ATT	.		0.672	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1		
ZFYVE1	53349	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	73437723	73437723	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr14:73437723T>C	ENST00000556143.1	-	12	2921	c.2201A>G	c.(2200-2202)aAg>aGg	p.K734R	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.K734R|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.K319R|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.K319R|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.K720R	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	734					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)			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)		GCAGTGGTGCTTGGAGAGCTT	0.632																																					p.K734R		.											.	ZFYVE1	91	0			c.A2201G						.						91.0	85.0	87.0					14																	73437723		2203	4300	6503	SO:0001583	missense	53349	exon12			TGGTGCTTGGAGA	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.2201A>G	14.37:g.73437723T>C	ENSP00000450742:p.Lys734Arg	90.0	0.0		94.0	33.0	NM_021260	J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.857848	0.71834	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143;ENST00000394207;ENST00000555072	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	5.01	5.01	0.66863	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.063203	0.64402	D	0.000004	T	0.71247	0.3317	L	0.33137	0.985	0.53688	D	0.999974	P;D	0.76494	0.492;0.999	B;D	0.70716	0.131;0.97	T	0.67488	-0.5658	10	0.21540	T	0.41	-24.3473	14.7507	0.69522	0.0:0.0:0.0:1.0	.	734;734	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	R	734;720;734;319;319	ENSP00000452442:K734R;ENSP00000326921:K720R;ENSP00000450742:K734R;ENSP00000377757:K319R;ENSP00000452232:K319R	ENSP00000326921:K734R	K	-	2	0	ZFYVE1	72507476	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.250000	0.65432	1.891000	0.54761	0.533000	0.62120	AAG	.		0.632	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260	
PIKFYVE	200576	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	209217489	209217490	+	Missense_Mutation	DNP	GG	GG	TC	rs191717036		TCGA-BC-A10W-01A-11D-A12Z-10	TCGA-BC-A10W-11A-11D-A12Z-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	9681d501-d5be-4b4d-8587-69b0a4f9eb3a	16c0da05-13b9-4c80-947f-2532f2cbf61a	g.chr2:209217489_209217490GG>TC	ENST00000264380.4	+	39	5985_5986	c.5827_5828GG>TC	c.(5827-5829)GGg>TCg	p.G1943S		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1943	Catalytic.|PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCTTTTCTACGGGAGAAAGATG	0.376																																					p.G1943S		.											.	.	.	0			.						.																																			SO:0001583	missense	200576	.			TTCTACGGGAGAA	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	Exception_encountered	2.37:g.209217489_209217490delinsTC	ENSP00000264380:p.Gly1943Ser	67.0	0.0		53.0	15.0	.	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	DNP	ENST00000264380.4	37	CCDS2382.1																																																																																			.		0.376	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
