#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABRA	137735	hgsc.bcm.edu	37	8	107773283	107773283	+	Silent	SNP	C	C	G			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr8:107773283C>G	ENST00000311955.3	-	2	1182	c.1128G>C	c.(1126-1128)gtG>gtC	p.V376V		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GTAGCGTAATCACAACATGGT	0.418																																																	0													206.0	191.0	196.0					8																	107773283		2203	4300	6503	SO:0001819	synonymous_variant	137735			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.1128G>C	8.37:g.107773283C>G				Silent	SNP	ENST00000311955.3	37	CCDS6305.1																																																																																				0.418	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1		NM_139166	
ADAMTS20	80070	hgsc.bcm.edu;ucsc.edu	37	12	43825222	43825222	+	Silent	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr12:43825222G>A	ENST00000389420.3	-	22	3173	c.3174C>T	c.(3172-3174)ggC>ggT	p.G1058G	ADAMTS20_ENST00000395541.2_Silent_p.G212G|ADAMTS20_ENST00000553158.1_Silent_p.G1058G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1058	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AATTACAGAAGCCATCACTCA	0.428																																																	0													179.0	154.0	162.0					12																	43825222		2203	4300	6503	SO:0001819	synonymous_variant	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3174C>T	12.37:g.43825222G>A			A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	CCDS31778.2																																																																																				0.428	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1		NM_025003	
AKAP4	8852	hgsc.bcm.edu;ucsc.edu	37	X	49963344	49963344	+	Silent	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chrX:49963344G>A	ENST00000376056.2	-	2	210	c.60C>T	c.(58-60)taC>taT	p.Y20Y	AKAP4_ENST00000376058.2_Silent_p.Y20Y|AKAP4_ENST00000358526.2_Silent_p.Y29Y|AKAP4_ENST00000376064.3_Silent_p.Y20Y|AKAP4_ENST00000481402.1_5'UTR					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTTCTGGGTTGTAGAGATCTA	0.423																																																	0													120.0	92.0	101.0					X																	49963344		2203	4300	6503	SO:0001819	synonymous_variant	8852			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.60C>T	X.37:g.49963344G>A				Silent	SNP	ENST00000376056.2	37	CCDS14330.1																																																																																				0.423	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1		NM_003886	
AKAP8L	26993	hgsc.bcm.edu;ucsc.edu	37	19	15511799	15511799	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr19:15511799G>A	ENST00000397410.5	-	6	1002	c.872C>T	c.(871-873)gCc>gTc	p.A291V	AKAP8L_ENST00000595465.2_Missense_Mutation_p.A230V|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	291						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CGTGCGGGTGGCTTTGCTATC	0.612																																																	0													77.0	83.0	81.0					19																	15511799		2111	4241	6352	SO:0001583	missense	26993			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.872C>T	19.37:g.15511799G>A	ENSP00000380557:p.Ala291Val		B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	G	4.979	0.181879	0.09495	.	.	ENSG00000011243	ENST00000397410	T	0.44881	0.91	4.75	3.7	0.42460	.	0.514227	0.21664	N	0.070966	T	0.45418	0.1341	L	0.34521	1.04	0.32007	N	0.602611	B;B;D;B	0.71674	0.084;0.221;0.998;0.084	B;B;D;B	0.80764	0.063;0.133;0.994;0.063	T	0.38779	-0.9645	10	0.02654	T	1	-9.4664	11.612	0.51066	0.0:0.0:0.8217:0.1783	.	230;61;291;291	B4DJ74;Q9UF73;B3KMD4;Q9ULX6	.;.;.;AKP8L_HUMAN	V	291	ENSP00000380557:A291V	ENSP00000380557:A291V	A	-	2	0	AKAP8L	15372799	1.000000	0.71417	0.596000	0.28811	0.232000	0.25224	5.613000	0.67688	0.993000	0.38866	0.491000	0.48974	GCC		0.612	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2		NM_014371	
AP1G2	8906	hgsc.bcm.edu	37	14	24035342	24035342	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr14:24035342G>A	ENST00000308724.5	-	4	1254	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.R167W	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	167					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)	p.R167W(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GGGACCTTCCGGATCATGTGC	0.572																																																	1	Substitution - Missense(1)	ovary(1)											48.0	49.0	49.0					14																	24035342		2203	4300	6503	SO:0001583	missense	8906			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.499C>T	14.37:g.24035342G>A	ENSP00000312442:p.Arg167Trp		D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693599	0.68386	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000557189	T;T;T	0.28666	1.6;1.6;1.6	5.2	5.2	0.72013	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63474	0.2514	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	T	0.71467	-0.4584	10	0.87932	D	0	-22.6974	11.1833	0.48642	0.0:0.0:0.8168:0.1832	.	167;167	G3V532;O75843	.;AP1G2_HUMAN	W	167	ENSP00000312442:R167W;ENSP00000380309:R167W;ENSP00000452153:R167W	ENSP00000312442:R167W	R	-	1	2	AP1G2	23105182	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	3.175000	0.50855	2.698000	0.92095	0.561000	0.74099	CGG		0.572	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4		NM_003917	
PHF7	51533	hgsc.bcm.edu;ucsc.edu	37	3	52442600	52442600	+	5'Flank	SNP	G	G	C			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr3:52442600G>C	ENST00000327906.3	+	0	0				BAP1_ENST00000460680.1_Missense_Mutation_p.L49V|BAP1_ENST00000296288.5_Missense_Mutation_p.L49V|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.L49V(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CATTTGAACAGGAAGATAAAT	0.473																																																	1	Substitution - Missense(1)	breast(1)											35.0	34.0	34.0					3																	52442600		2203	4299	6502	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52442600G>C	Exception_encountered		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164508	0.78339	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.61859	0.07;0.07	5.43	3.63	0.41609	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.64402	D	0.000001	D	0.82462	0.5042	H	0.97023	3.925	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85958	0.1468	10	0.87932	D	0	-2.3505	11.8105	0.52179	0.143:0.0:0.857:0.0	.	49	Q92560	BAP1_HUMAN	V	49	ENSP00000417132:L49V;ENSP00000296288:L49V	ENSP00000296288:L49V	L	-	1	2	BAP1	52417640	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.538000	0.53597	0.668000	0.31126	-0.140000	0.14226	CTG		0.473	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		NM_016483	
BCAN	63827	hgsc.bcm.edu	37	1	156622354	156622354	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr1:156622354C>G	ENST00000329117.5	+	8	1948	c.1612C>G	c.(1612-1614)Cca>Gca	p.P538A	BCAN_ENST00000361588.5_Missense_Mutation_p.P538A|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	538					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|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 disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTCCATGGACCACCTACTGA	0.607																																																	0													41.0	40.0	40.0					1																	156622354		2203	4300	6503	SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1612C>G	1.37:g.156622354C>G	ENSP00000331210:p.Pro538Ala		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368645	0.42003	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.12774	2.65;3.31	4.59	3.67	0.42095	.	0.266613	0.23678	N	0.045642	T	0.03053	0.0090	L	0.27053	0.805	0.09310	N	1	P;P	0.52316	0.622;0.952	B;B	0.43413	0.112;0.419	T	0.30504	-0.9976	10	0.10636	T	0.68	-7.9822	9.8029	0.40775	0.2053:0.7947:0.0:0.0	.	538;538	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	A	477;538;538	ENSP00000331210:P538A;ENSP00000354925:P538A	ENSP00000255029:P477A	P	+	1	0	BCAN	154888978	0.972000	0.33761	0.167000	0.22817	0.973000	0.67179	3.340000	0.52143	1.129000	0.42072	0.455000	0.32223	CCA		0.607	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2		NM_021948	
BCAR1	9564	hgsc.bcm.edu	37	16	75276448	75276448	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr16:75276448C>A	ENST00000162330.5	-	2	679	c.553G>T	c.(553-555)Gcc>Tcc	p.A185S	BCAR1_ENST00000418647.3_Missense_Mutation_p.A231S|BCAR1_ENST00000546196.1_Missense_Mutation_p.A156S|BCAR1_ENST00000542031.2_Missense_Mutation_p.A183S|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000420641.3_Missense_Mutation_p.A203S|BCAR1_ENST00000538440.2_Missense_Mutation_p.A185S|BCAR1_ENST00000393422.2_Missense_Mutation_p.A203S|BCAR1_ENST00000393420.6_Missense_Mutation_p.A185S	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	185	Substrate for kinases. {ECO:0000250}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCCATCCCGGCAGAAGGTGGC	0.657																																																	0													44.0	50.0	48.0					16																	75276448		2197	4299	6496	SO:0001583	missense	9564			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.553G>T	16.37:g.75276448C>A	ENSP00000162330:p.Ala185Ser		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629402	0.67015	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.66	4.66	0.58398	.	0.773311	0.11963	N	0.512510	T	0.54013	0.1832	N	0.14661	0.345	0.39638	D	0.970284	B;P;D;P;B;D;D	0.67145	0.289;0.615;0.996;0.669;0.063;0.996;0.985	B;B;D;B;B;D;P	0.76071	0.224;0.219;0.987;0.348;0.056;0.987;0.535	T	0.37957	-0.9683	10	0.10902	T	0.67	-16.0516	14.665	0.68901	0.0:1.0:0.0:0.0	.	203;231;183;185;203;185;185	B4DIW5;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945	.;.;.;.;.;.;BCAR1_HUMAN	S	185;203;203;185;231;185;183;156	ENSP00000162330:A185S;ENSP00000377074:A203S;ENSP00000392708:A203S;ENSP00000443841:A185S;ENSP00000391669:A231S;ENSP00000377072:A185S;ENSP00000440415:A183S;ENSP00000442161:A156S	ENSP00000162330:A185S	A	-	1	0	BCAR1	73833949	0.090000	0.21635	0.997000	0.53966	0.987000	0.75469	1.002000	0.29796	2.324000	0.78689	0.655000	0.94253	GCC		0.657	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1		NM_014567	
BPTF	2186	hgsc.bcm.edu;ucsc.edu	37	17	65942187	65942187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr17:65942187C>T	ENST00000321892.4	+	23	7802	c.7741C>T	c.(7741-7743)Cag>Tag	p.Q2581*	BPTF_ENST00000424123.3_Intron|BPTF_ENST00000306378.6_Nonsense_Mutation_p.Q2455*|BPTF_ENST00000335221.5_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2581					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGTTGTGGCTCAGATACAGGC	0.498																																																	0													114.0	99.0	104.0					17																	65942187		2203	4300	6503	SO:0001587	stop_gained	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7741C>T	17.37:g.65942187C>T	ENSP00000315454:p.Gln2581*		Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	C	47	13.491950	0.99745	.	.	ENSG00000171634	ENST00000306378;ENST00000321892	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-3.063	20.2284	0.98346	0.0:1.0:0.0:0.0	.	.	.	.	X	2455;2581	.	ENSP00000307208:Q2455X	Q	+	1	0	BPTF	63372649	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	7.288000	0.78691	2.785000	0.95823	0.650000	0.86243	CAG		0.498	BPTF-201	KNOWN	basic	protein_coding	protein_coding			NM_182641, NM_004459	
SDE2	163859	hgsc.bcm.edu;ucsc.edu	37	1	226180618	226180618	+	Silent	SNP	T	T	C			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr1:226180618T>C	ENST00000272091.7	-	3	342	c.324A>G	c.(322-324)agA>agG	p.R108R		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	108																	CATCGCGTAGTCTCCTTCCAC	0.418																																																	0													95.0	86.0	89.0					1																	226180618		1881	4108	5989	SO:0001819	synonymous_variant	0			BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.324A>G	1.37:g.226180618T>C			A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Silent	SNP	ENST00000272091.7	37	CCDS41473.1																																																																																				0.418	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1		NM_152608	
CAMKK2	10645	hgsc.bcm.edu;ucsc.edu	37	12	121698132	121698132	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr12:121698132A>T	ENST00000324774.5	-	7	1614	c.786T>A	c.(784-786)caT>caA	p.H262Q	CAMKK2_ENST00000446440.2_Missense_Mutation_p.H262Q|CAMKK2_ENST00000538733.1_Missense_Mutation_p.H262Q|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000392474.2_Missense_Mutation_p.H262Q|CAMKK2_ENST00000337174.3_Missense_Mutation_p.H262Q|CAMKK2_ENST00000404169.3_Missense_Mutation_p.H262Q|CAMKK2_ENST00000347034.2_Missense_Mutation_p.H262Q|CAMKK2_ENST00000412367.2_Missense_Mutation_p.H262Q|CAMKK2_ENST00000402834.4_Missense_Mutation_p.H262Q|CAMKK2_ENST00000392473.2_Missense_Mutation_p.H262Q|CAMKK2_ENST00000545538.1_Missense_Mutation_p.H49Q	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCATGTACAGATGGTCCTCAT	0.577																																																	0													109.0	82.0	91.0					12																	121698132		2203	4300	6503	SO:0001583	missense	10645			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.786T>A	12.37:g.121698132A>T	ENSP00000312741:p.His262Gln		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.071691	0.36566	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000545538;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	4.69	2.33	0.28932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.113474	0.64402	D	0.000014	T	0.53110	0.1776	N	0.11313	0.125	0.48236	D	0.999615	P;P;P;B;P;D;D;P	0.55385	0.752;0.94;0.94;0.356;0.779;0.964;0.971;0.94	P;P;P;B;P;P;P;P	0.58331	0.583;0.681;0.681;0.097;0.583;0.828;0.837;0.681	T	0.54549	-0.8277	10	0.66056	D	0.02	-1.5828	7.4091	0.27007	0.7163:0.0:0.2837:0.0	.	262;262;262;49;262;262;262;262	Q96RR4-6;Q96RR4-2;Q96RR4-7;F5GZ00;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;.;KKCC2_HUMAN;.	Q	262;262;262;262;262;49;262;262;245;262;262	ENSP00000376266:H262Q;ENSP00000321230:H262Q;ENSP00000445944:H262Q;ENSP00000336634:H262Q;ENSP00000312741:H262Q;ENSP00000441352:H49Q;ENSP00000388368:H262Q;ENSP00000384600:H262Q;ENSP00000388273:H262Q;ENSP00000376265:H262Q	ENSP00000312741:H262Q	H	-	3	2	CAMKK2	120182515	0.998000	0.40836	1.000000	0.80357	0.949000	0.60115	0.769000	0.26604	0.275000	0.22094	0.459000	0.35465	CAT		0.577	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1		NM_172226	
CARKD	55739	hgsc.bcm.edu	37	13	111287086	111287086	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr13:111287086C>A	ENST00000309957.2	+	7	628	c.614C>A	c.(613-615)cCc>cAc	p.P205H	CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000397191.4_3'UTR|CARKD_ENST00000424185.2_Missense_Mutation_p.P95H|CARKD_ENST00000458711.2_Missense_Mutation_p.P74H	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing											NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						GTGCTCACTCCCAACCACGTG	0.602																																																	0													72.0	60.0	64.0					13																	111287086		2203	4300	6503	SO:0001583	missense	55739			AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.614C>A	13.37:g.111287086C>A	ENSP00000311984:p.Pro205His			Missense_Mutation	SNP	ENST00000309957.2	37	CCDS9513.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759491	0.69763	.	.	ENSG00000213995	ENST00000458711;ENST00000424185;ENST00000439607;ENST00000309957	T;T;T	0.75154	-0.91;-0.91;-0.91	5.12	5.12	0.69794	Uncharacterised domain, carbohydrate kinase-related (3);	0.000000	0.85682	D	0.000000	D	0.91334	0.7267	H	0.97440	4.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.94445	0.7662	10	0.87932	D	0	-34.7158	17.3438	0.87305	0.0:1.0:0.0:0.0	.	74;95;187;205;205	B4DQR1;Q8IW45-4;B4DKX7;Q8IW45-2;Q8IW45	.;.;.;.;CARKD_HUMAN	H	74;95;187;205	ENSP00000412789:P74H;ENSP00000413191:P95H;ENSP00000311984:P205H	ENSP00000311984:P205H	P	+	2	0	CARKD	110085087	1.000000	0.71417	0.994000	0.49952	0.261000	0.26267	7.093000	0.76937	2.360000	0.80028	0.655000	0.94253	CCC		0.602	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045764.1		NM_018210	
CDK12	51755	hgsc.bcm.edu	37	17	37618612	37618612	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr17:37618612C>A	ENST00000447079.4	+	1	321	c.288C>A	c.(286-288)aaC>aaA	p.N96K	CDK12_ENST00000430627.2_Missense_Mutation_p.N96K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	96					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GAAGGGAGAACGACGAACGTC	0.512			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													75.0	66.0	69.0					17																	37618612		2203	4300	6503	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.288C>A	17.37:g.37618612C>A	ENSP00000398880:p.Asn96Lys		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077353	0.55753	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.39229	1.09;1.09	4.56	1.15	0.20763	.	0.138608	0.33005	N	0.005395	T	0.46464	0.1394	L	0.36672	1.1	0.40862	D	0.983847	D;D;D	0.76494	0.999;0.997;0.998	D;P;D	0.66847	0.947;0.819;0.912	T	0.30031	-0.9992	10	0.42905	T	0.14	-5.2659	8.3283	0.32171	0.0:0.4782:0.0:0.5218	.	96;96;96	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	K	96	ENSP00000407720:N96K;ENSP00000398880:N96K	ENSP00000407720:N96K	N	+	3	2	CDK12	34872138	0.071000	0.21146	0.996000	0.52242	0.868000	0.49771	-0.735000	0.04888	0.012000	0.14892	-0.367000	0.07326	AAC		0.512	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4		NM_016507	
CDK5RAP3	80279	hgsc.bcm.edu;ucsc.edu	37	17	46051372	46051372	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr17:46051372G>T	ENST00000338399.4	+	4	366	c.260G>T	c.(259-261)gGc>gTc	p.G87V	RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.G112V	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	87					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						AATATTTTTGGCCGATACTCT	0.507																																																	0													95.0	94.0	94.0					17																	46051372		1905	4110	6015	SO:0001583	missense	80279			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.260G>T	17.37:g.46051372G>T	ENSP00000344683:p.Gly87Val		B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	ENST00000338399.4	37	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062092	0.93846	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.75938	-0.98;-0.98	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.89757	0.6807	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91889	0.5522	10	0.87932	D	0	-17.0448	18.2085	0.89863	0.0:0.0:1.0:0.0	.	87	Q96JB5	CK5P3_HUMAN	V	112;87	ENSP00000438886:G112V;ENSP00000344683:G87V	ENSP00000344683:G87V	G	+	2	0	CDK5RAP3	43406371	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.231000	0.95317	2.611000	0.88343	0.655000	0.94253	GGC		0.507	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1		NM_176096	
COL6A2	1292	hgsc.bcm.edu	37	21	47532722	47532722	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr21:47532722A>T	ENST00000300527.4	+	4	823	c.719A>T	c.(718-720)cAc>cTc	p.H240L	COL6A2_ENST00000357838.4_Missense_Mutation_p.H240L|COL6A2_ENST00000397763.1_Missense_Mutation_p.H240L|COL6A2_ENST00000409416.1_Missense_Mutation_p.H240L|COL6A2_ENST00000310645.5_Missense_Mutation_p.H240L|COL6A2_ENST00000460886.1_3'UTR	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	240	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTGCAGAAACACGAAGCCTAC	0.647																																																	0													126.0	98.0	108.0					21																	47532722		2203	4300	6503	SO:0001583	missense	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.719A>T	21.37:g.47532722A>T	ENSP00000300527:p.His240Leu		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.322748	0.60634	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.89617	-2.46;-2.48;-2.54;-2.54;-2.48	4.0	4.0	0.46444	.	0.297641	0.32769	N	0.005679	D	0.91078	0.7192	M	0.62723	1.935	0.80722	D	1	D;D;B	0.59357	0.985;0.971;0.232	P;P;B	0.59012	0.637;0.85;0.159	D	0.89028	0.3440	10	0.23891	T	0.37	-13.253	13.2156	0.59859	1.0:0.0:0.0:0.0	.	240;240;240	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	L	240	ENSP00000300527:H240L;ENSP00000350497:H240L;ENSP00000312529:H240L;ENSP00000387115:H240L;ENSP00000380870:H240L	ENSP00000300527:H240L	H	+	2	0	COL6A2	46357150	0.988000	0.35896	0.989000	0.46669	0.963000	0.63663	2.936000	0.48971	1.592000	0.50018	0.379000	0.24179	CAC		0.647	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			
DENND4C	55667	hgsc.bcm.edu	37	9	19331996	19331996	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr9:19331996A>T	ENST00000380432.2	+	13	1599	c.1566A>T	c.(1564-1566)aaA>aaT	p.K522N	DENND4C_ENST00000434457.2_Missense_Mutation_p.K758N|DENND4C_ENST00000602925.1_Missense_Mutation_p.K758N			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	522					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CAGCTCATAAATTGGCGAAGA	0.363																																																	0													104.0	93.0	97.0					9																	19331996		2203	4300	6503	SO:0001583	missense	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.1566A>T	9.37:g.19331996A>T	ENSP00000369797:p.Lys522Asn		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37		.	.	.	.	.	.	.	.	.	.	A	15.30	2.793331	0.50102	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.87	-1.57	0.08506	.	0.298583	0.41712	D	0.000832	T	0.59362	0.2188	L	0.58583	1.82	0.80722	D	1	D	0.62365	0.991	P	0.53518	0.728	T	0.61559	-0.7038	9	0.87932	D	0	-19.7422	10.4073	0.44272	0.6149:0.0:0.3851:0.0	.	522	Q5VZ89	DEN4C_HUMAN	N	522	.	ENSP00000369802:K522N	K	+	3	2	DENND4C	19321996	0.999000	0.42202	0.992000	0.48379	0.998000	0.95712	0.848000	0.27710	-0.314000	0.08716	0.533000	0.62120	AAA		0.363	DENND4C-201	KNOWN	basic	protein_coding	protein_coding			NM_017925	
DTX1	1840	hgsc.bcm.edu	37	12	113531890	113531890	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr12:113531890A>C	ENST00000257600.3	+	5	1716	c.1213A>C	c.(1213-1215)Aac>Cac	p.N405H	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	405					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GAAGGTGAAAAACCCACCTGA	0.612																																																	0													26.0	23.0	24.0					12																	113531890		2191	4281	6472	SO:0001583	missense	1840			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1213A>C	12.37:g.113531890A>C	ENSP00000257600:p.Asn405His		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	A	2.264	-0.368596	0.05069	.	.	ENSG00000135144	ENST00000257600	T	0.67523	-0.27	3.74	3.74	0.42951	.	0.692417	0.14337	N	0.325956	T	0.38453	0.1041	N	0.02916	-0.46	0.27223	N	0.959612	B	0.02656	0.0	B	0.08055	0.003	T	0.19582	-1.0301	10	0.26408	T	0.33	-7.2777	7.8439	0.29414	0.8141:0.0:0.0:0.1859	.	405	Q86Y01	DTX1_HUMAN	H	405	ENSP00000257600:N405H	ENSP00000257600:N405H	N	+	1	0	DTX1	112016273	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	2.315000	0.43752	1.625000	0.50366	0.379000	0.24179	AAC		0.612	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			
ELAVL4	1996	hgsc.bcm.edu	37	1	50666792	50666792	+	Missense_Mutation	SNP	G	G	T	rs377132231		TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr1:50666792G>T	ENST00000371823.4	+	7	1309	c.1085G>T	c.(1084-1086)cGc>cTc	p.R362L	ELAVL4_ENST00000371827.1_Missense_Mutation_p.R348L|ELAVL4_ENST00000371824.1_Missense_Mutation_p.R348L|ELAVL4_ENST00000448907.2_Missense_Mutation_p.R351L|ELAVL4_ENST00000357083.4_Missense_Mutation_p.R365L|ELAVL4_ENST00000371819.1_Missense_Mutation_p.R353L|ELAVL4_ENST00000371821.1_Missense_Mutation_p.R367L	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	362	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R362H(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						AACGGGTACCGCCTGGGAGAC	0.443																																																	1	Substitution - Missense(1)	ovary(1)											51.0	48.0	49.0					1																	50666792		2203	4300	6503	SO:0001583	missense	1996			AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.1085G>T	1.37:g.50666792G>T	ENSP00000360888:p.Arg362Leu		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	CCDS553.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769436	0.49680	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39;2.39	6.07	6.07	0.98685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.17746	0.0426	N	0.11131	0.1	0.80722	D	1	B;B;P;B;B;P	0.43477	0.443;0.271;0.808;0.389;0.389;0.648	B;B;P;B;B;B	0.48873	0.27;0.07;0.593;0.112;0.176;0.374	T	0.06807	-1.0806	10	0.28530	T	0.3	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	353;348;362;365;348;351	B1APY9;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;ELAV4_HUMAN;.;.;.	L	351;348;365;348;362;367;353	ENSP00000399939:R351L;ENSP00000360892:R348L;ENSP00000349594:R365L;ENSP00000360889:R348L;ENSP00000360888:R362L;ENSP00000360886:R367L;ENSP00000360884:R353L	ENSP00000349594:R365L	R	+	2	0	ELAVL4	50439379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.414000	0.97362	2.885000	0.99019	0.655000	0.94253	CGC		0.443	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1		NM_021952	
ELFN2	114794	hgsc.bcm.edu	37	22	37769914	37769914	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr22:37769914G>A	ENST00000402918.2	-	3	2446	c.1661C>T	c.(1660-1662)gCt>gTt	p.A554V	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	554					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CAGCTTGAGAGCATCGATGCA	0.627																																																	0													77.0	72.0	74.0					22																	37769914		2203	4300	6503	SO:0001583	missense	114794			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1661C>T	22.37:g.37769914G>A	ENSP00000385277:p.Ala554Val		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976239	0.74360	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.34072	1.38;1.38	4.79	4.79	0.61399	.	0.055760	0.64402	D	0.000001	T	0.61098	0.2320	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66582	-0.5887	10	0.87932	D	0	-29.0249	17.8355	0.88694	0.0:0.0:1.0:0.0	.	554	Q5R3F8	PPR29_HUMAN	V	554	ENSP00000300147:A554V;ENSP00000385277:A554V	ENSP00000300147:A554V	A	-	2	0	ELFN2	36099860	1.000000	0.71417	0.995000	0.50966	0.899000	0.52679	9.753000	0.98904	2.195000	0.70347	0.511000	0.50034	GCT		0.627	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2		NM_052906	
ERBB3	2065	hgsc.bcm.edu;ucsc.edu	37	12	56478808	56478808	+	Silent	SNP	C	C	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr12:56478808C>T	ENST00000267101.3	+	3	704	c.264C>T	c.(262-264)ctC>ctT	p.L88L	ERBB3_ENST00000411731.2_Silent_p.L88L|ERBB3_ENST00000415288.2_Silent_p.L29L|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	88					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCTATGTCCTCGTGGCCATGA	0.488																																																	0													164.0	136.0	146.0					12																	56478808		2203	4300	6503	SO:0001819	synonymous_variant	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.264C>T	12.37:g.56478808C>T			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	ENST00000267101.3	37	CCDS31833.1																																																																																				0.488	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			
FAAH2	158584	hgsc.bcm.edu	37	X	57358084	57358084	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chrX:57358084G>A	ENST00000374900.4	+	4	586	c.466G>A	c.(466-468)Gat>Aat	p.D156N		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	156						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TGCCAAAACAGATGCCACTGT	0.398										HNSCC(52;0.14)																																							0													127.0	99.0	108.0					X																	57358084		2203	4300	6503	SO:0001583	missense	158584			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.466G>A	X.37:g.57358084G>A	ENSP00000364035:p.Asp156Asn		Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609227	0.66558	.	.	ENSG00000165591	ENST00000374900	T	0.70986	-0.53	2.38	2.38	0.29361	Amidase signature domain (2);	0.000000	0.85682	U	0.000000	T	0.82162	0.4977	M	0.84773	2.715	0.48632	D	0.999689	D	0.60575	0.988	D	0.67900	0.954	T	0.82350	-0.0501	10	0.51188	T	0.08	.	10.0897	0.42439	0.0:0.0:1.0:0.0	.	156	Q6GMR7	FAAH2_HUMAN	N	156	ENSP00000364035:D156N	ENSP00000364035:D156N	D	+	1	0	FAAH2	57374809	1.000000	0.71417	0.977000	0.42913	0.748000	0.42578	7.215000	0.77966	0.910000	0.36722	0.506000	0.49869	GAT		0.398	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1		NM_174912	
FAM129C	199786	hgsc.bcm.edu;ucsc.edu	37	19	17664214	17664214	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr19:17664214A>T	ENST00000335393.4	+	16	2074	c.1936A>T	c.(1936-1938)Ata>Tta	p.I646L	COLGALT1_ENST00000252599.4_5'Flank|FAM129C_ENST00000601861.1_Missense_Mutation_p.I615L|FAM129C_ENST00000449408.2_Missense_Mutation_p.I372L	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	646										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TGCTAACTGGATATTGGCAGC	0.502																																																	0													120.0	118.0	118.0					19																	17664214		2203	4300	6503	SO:0001583	missense	199786			AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1936A>T	19.37:g.17664214A>T	ENSP00000335040:p.Ile646Leu		B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	A	0.243	-1.012087	0.02095	.	.	ENSG00000167483	ENST00000335393;ENST00000449408	T;T	0.25912	2.13;1.77	2.18	-4.07	0.03975	.	.	.	.	.	T	0.10852	0.0265	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.23440	-1.0188	9	0.52906	T	0.07	.	5.9203	0.19078	0.27:0.1905:0.5395:0.0	.	646	Q86XR2	NIBL2_HUMAN	L	646;372	ENSP00000335040:I646L;ENSP00000394929:I372L	ENSP00000335040:I646L	I	+	1	0	FAM129C	17525214	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.509000	0.06336	-1.440000	0.01960	-0.761000	0.03458	ATA		0.502	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1		NM_173544	
SPATA31A3	727830	hgsc.bcm.edu	37	9	40704227	40704227	+	Silent	SNP	C	C	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr9:40704227C>T	ENST00000356699.5	+	4	1913	c.1884C>T	c.(1882-1884)gaC>gaT	p.D628D	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	628					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGCTTCAGGACGAATCACCAG	0.537																																																	0													14.0	12.0	12.0					9																	40704227		1412	2691	4103	SO:0001819	synonymous_variant	0					9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.1884C>T	9.37:g.40704227C>T				Silent	SNP	ENST00000356699.5	37	CCDS47969.1																																																																																				0.537	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1		NM_001083124	
FAM83A	84985	hgsc.bcm.edu	37	8	124195554	124195554	+	Missense_Mutation	SNP	G	G	A	rs376602872		TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr8:124195554G>A	ENST00000518448.1	+	2	2472	c.458G>A	c.(457-459)cGc>cAc	p.R153H	RP11-539E17.5_ENST00000522383.1_RNA|FAM83A_ENST00000546351.1_Missense_Mutation_p.R153H|U3_ENST00000408534.1_RNA|FAM83A_ENST00000536633.1_Missense_Mutation_p.R153H|FAM83A_ENST00000318462.6_Missense_Mutation_p.R153H|FAM83A_ENST00000276699.6_Missense_Mutation_p.R153H|FAM83A_ENST00000522648.1_Missense_Mutation_p.R153H			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	153								p.R153H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTCGTCCGCCGCTGCATCACC	0.607																																																	1	Substitution - Missense(1)	ovary(1)						G	HIS/ARG,HIS/ARG	0,4394		0,0,2197	54.0	56.0	55.0		458,458	5.5	1.0	8		55	1,8587		0,1,4293	no	missense,missense	FAM83A	NM_032899.4,NM_207006.1	29,29	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	153/435,153/368	124195554	1,12981	2197	4294	6491	SO:0001583	missense	84985			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.458G>A	8.37:g.124195554G>A	ENSP00000428876:p.Arg153His		Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589895	0.86851	0.0	1.16E-4	ENSG00000147689	ENST00000518448;ENST00000546351;ENST00000536633;ENST00000318462;ENST00000522648;ENST00000276699	T;T;T;T;T;T	0.14391	2.51;2.86;2.51;2.51;2.86;2.51	5.46	5.46	0.80206	.	0.116123	0.64402	D	0.000011	T	0.40791	0.1131	M	0.76574	2.34	0.41628	D	0.989009	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.977;0.955;0.989	T	0.25676	-1.0125	10	0.66056	D	0.02	-33.6774	19.2957	0.94120	0.0:0.0:1.0:0.0	.	153;153;153	Q86UY5-2;Q86UY5-3;Q86UY5	.;.;FA83A_HUMAN	H	153	ENSP00000428876:R153H;ENSP00000440565:R153H;ENSP00000445218:R153H;ENSP00000323034:R153H;ENSP00000427979:R153H;ENSP00000276699:R153H	ENSP00000276699:R153H	R	+	2	0	FAM83A	124264735	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.362000	0.52314	2.548000	0.85928	0.561000	0.74099	CGC		0.607	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1		NM_032899	
FLAD1	80308	hgsc.bcm.edu	37	1	154960802	154960802	+	Silent	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr1:154960802G>A	ENST00000292180.3	+	2	916	c.594G>A	c.(592-594)gaG>gaA	p.E198E	FLAD1_ENST00000405236.2_Silent_p.E99E|FLAD1_ENST00000295530.2_De_novo_Start_InFrame|FLAD1_ENST00000368431.3_Silent_p.E99E|FLAD1_ENST00000315144.10_Silent_p.E101E|FLAD1_ENST00000368433.1_Silent_p.E198E|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000368432.1_Silent_p.E101E|FLAD1_ENST00000368428.1_5'Flank	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	198	Molybdenum cofactor biosynthesis protein- like.				FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGGAGATGAGCTGAAGCCAC	0.582																																																	0													94.0	95.0	94.0					1																	154960802		2203	4300	6503	SO:0001819	synonymous_variant	80308				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.594G>A	1.37:g.154960802G>A			Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Silent	SNP	ENST00000292180.3	37	CCDS1078.1																																																																																				0.582	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1		NM_025207	
GALNT2	2590	hgsc.bcm.edu;ucsc.edu	37	1	230410256	230410256	+	Silent	SNP	G	G	C			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr1:230410256G>C	ENST00000366672.4	+	15	1578	c.1506G>C	c.(1504-1506)cgG>cgC	p.R502R	GALNT2_ENST00000541865.1_3'UTR|GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000543760.1_Silent_p.R464R	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	502	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGGTGGACCGGGCACCGGGCT	0.557																																																	0													81.0	83.0	82.0					1																	230410256		2203	4300	6503	SO:0001819	synonymous_variant	2590			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1506G>C	1.37:g.230410256G>C			A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	CCDS1582.1																																																																																				0.557	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1		NM_004481	
ITGA6	3655	hgsc.bcm.edu;ucsc.edu	37	2	173356019	173356019	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr2:173356019T>C	ENST00000264106.6	+	23	3169	c.2966T>C	c.(2965-2967)cTt>cCt	p.L989P	ITGA6_ENST00000264107.7_Missense_Mutation_p.L950P|ITGA6_ENST00000409080.1_Missense_Mutation_p.L950P|ITGA6_ENST00000375221.2_Missense_Mutation_p.L989P|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000343713.4_Missense_Mutation_p.L945P|ITGA6_ENST00000409532.1_Missense_Mutation_p.L831P			P23229	ITA6_HUMAN	integrin, alpha 6	989					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AAGGCGTCTCTTATTTTGCGC	0.478																																																	0													137.0	137.0	137.0					2																	173356019		2203	4300	6503	SO:0001583	missense	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2966T>C	2.37:g.173356019T>C	ENSP00000264106:p.Leu989Pro		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		.	.	.	.	.	.	.	.	.	.	T	15.09	2.730889	0.48939	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	T;T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.21	5.21	0.72293	.	0.324266	0.31673	N	0.007244	T	0.69833	0.3155	M	0.68952	2.095	0.53005	D	0.999967	P;D;P;P	0.53462	0.775;0.96;0.759;0.876	P;D;P;P	0.66847	0.477;0.947;0.5;0.575	T	0.73655	-0.3914	10	0.87932	D	0	.	15.0707	0.72034	0.0:0.0:0.0:1.0	.	945;974;950;950	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	P	831;950;989;989;945;950;989;945;117	ENSP00000386614:L831P;ENSP00000264107:L950P;ENSP00000264106:L989P;ENSP00000364369:L989P;ENSP00000341078:L945P;ENSP00000386896:L950P;ENSP00000406694:L989P;ENSP00000394169:L945P;ENSP00000388435:L117P	ENSP00000264106:L989P	L	+	2	0	ITGA6	173064265	0.990000	0.36364	0.018000	0.16275	0.281000	0.26958	7.634000	0.83273	1.968000	0.57251	0.383000	0.25322	CTT		0.478	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				
KIAA0430	9665	hgsc.bcm.edu;ucsc.edu	37	16	15690639	15690639	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr16:15690639C>A	ENST00000396368.3	-	27	5346	c.5140G>T	c.(5140-5142)Gac>Tac	p.D1714Y	KIAA0430_ENST00000540441.2_Missense_Mutation_p.D1549Y|KIAA0430_ENST00000548025.1_Missense_Mutation_p.D1711Y|KIAA0430_ENST00000602337.1_Missense_Mutation_p.D1711Y|KIAA0430_ENST00000344181.3_Missense_Mutation_p.D1402Y|KIAA0430_ENST00000551742.1_Missense_Mutation_p.D1714Y	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1714					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCACGGGGTCCTTGCTGAGC	0.537																																																	0													104.0	102.0	103.0					16																	15690639		1955	4142	6097	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.5140G>T	16.37:g.15690639C>A	ENSP00000379654:p.Asp1714Tyr		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877216	0.51801	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.45	5.45	0.79879	.	0.292576	0.34580	N	0.003857	T	0.50837	0.1639	L	0.27053	0.805	0.29597	N	0.848016	D;D;D;P	0.54047	0.964;0.964;0.964;0.94	P;P;P;P	0.53006	0.715;0.643;0.643;0.522	T	0.53322	-0.8455	9	0.72032	D	0.01	.	19.2928	0.94108	0.0:1.0:0.0:0.0	.	1713;1711;1710;1713	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	Y	1714;1549;1654;1402;1711;1714;1580	.	ENSP00000315718:D1654Y	D	-	1	0	KIAA0430	15598140	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	4.715000	0.61909	2.538000	0.85594	0.655000	0.94253	GAC		0.537	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2		NM_014647	
EPG5	57724	hgsc.bcm.edu;ucsc.edu	37	18	43523194	43523194	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr18:43523194C>T	ENST00000282041.5	-	9	1910	c.1876G>A	c.(1876-1878)Gtg>Atg	p.V626M		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	626					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCTAACCCCACAGCCAGAAGT	0.398																																																	0													126.0	125.0	125.0					18																	43523194		1861	4093	5954	SO:0001583	missense	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1876G>A	18.37:g.43523194C>T	ENSP00000282041:p.Val626Met		A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179163	0.57800	.	.	ENSG00000152223	ENST00000282041	T	0.10288	2.89	5.53	4.66	0.58398	.	0.474895	0.23746	N	0.044970	T	0.12135	0.0295	L	0.50333	1.59	0.37032	D	0.896729	B;B	0.22146	0.065;0.065	B;B	0.26094	0.066;0.066	T	0.06481	-1.0824	10	0.46703	T	0.11	-7.7008	9.9665	0.41727	0.0:0.7895:0.138:0.0725	.	626;626	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	M	626	ENSP00000282041:V626M	ENSP00000282041:V626M	V	-	1	0	EPG5	41777192	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.423000	0.44705	1.339000	0.45563	-0.391000	0.06502	GTG		0.398	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1		NM_020964	
KRT6C	286887	hgsc.bcm.edu	37	12	52863663	52863663	+	Silent	SNP	C	C	T	rs11540291		TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr12:52863663C>T	ENST00000252250.6	-	7	1262	c.1215G>A	c.(1213-1215)ctG>ctA	p.L405L		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	405	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGGCAGCCTGCAGGCTGGCAC	0.577																																																	0													55.0	52.0	53.0					12																	52863663		2203	4300	6503	SO:0001819	synonymous_variant	286887			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1215G>A	12.37:g.52863663C>T			A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	CCDS8829.1																																																																																				0.577	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1		NM_173086	
MIA3	375056	hgsc.bcm.edu;ucsc.edu	37	1	222826679	222826679	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr1:222826679G>C	ENST00000344922.5	+	15	4344	c.4319G>C	c.(4318-4320)gGa>gCa	p.G1440A	MIA3_ENST00000340535.7_Missense_Mutation_p.G318A|MIA3_ENST00000344441.6_Missense_Mutation_p.G1440A|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1440					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GGAGAAGTGGGAGGTAAGATC	0.428																																																	0													107.0	104.0	105.0					1																	222826679		1920	4122	6042	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4319G>C	1.37:g.222826679G>C	ENSP00000340900:p.Gly1440Ala		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	8.936	0.964608	0.18583	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.40225	1.24;1.24;1.04	5.56	-0.198	0.13224	.	.	.	.	.	T	0.32496	0.0831	L	0.31294	0.92	0.22745	N	0.998785	B;B;B	0.19331	0.02;0.035;0.024	B;B;B	0.20767	0.027;0.031;0.025	T	0.27434	-1.0074	9	0.08837	T	0.75	.	21.2306	0.99949	0.0:0.7999:0.2001:0.0	.	1381;318;1440	Q5JRA6-2;Q5JRA6-4;Q5JRA6	.;.;MIA3_HUMAN	A	1440;1440;1381;318;318	ENSP00000340900:G1440A;ENSP00000340587:G1440A;ENSP00000345866:G318A	ENSP00000284471:G318A	G	+	2	0	MIA3	220893302	1.000000	0.71417	0.696000	0.30242	0.482000	0.33219	1.890000	0.39728	0.007000	0.14760	-0.266000	0.10368	GGA		0.428	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4		NM_198551	
MYNN	55892	hgsc.bcm.edu	37	3	169504386	169504386	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr3:169504386C>G	ENST00000349841.5	+	8	2416	c.1753C>G	c.(1753-1755)Cct>Gct	p.P585A	MYNN_ENST00000544106.1_Missense_Mutation_p.P556A|MYNN_ENST00000356716.4_Missense_Mutation_p.P585A	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	585					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TACTCAGTCTCCTACATCAGA	0.398																																																	0													96.0	90.0	92.0					3																	169504386		2203	4300	6503	SO:0001583	missense	55892			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.1753C>G	3.37:g.169504386C>G	ENSP00000326240:p.Pro585Ala		B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567556	0.28003	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000544106	T;T;T	0.09255	3.15;3.15;3.0	5.25	4.38	0.52667	.	0.183048	0.38272	N	0.001753	T	0.08133	0.0203	N	0.24115	0.695	0.80722	D	1	P;B	0.37330	0.59;0.162	B;B	0.35413	0.202;0.037	T	0.34527	-0.9825	10	0.30078	T	0.28	.	13.7345	0.62809	0.0:0.9256:0.0:0.0744	.	556;585	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	A	585;585;556	ENSP00000349150:P585A;ENSP00000326240:P585A;ENSP00000440637:P556A	ENSP00000326240:P585A	P	+	1	0	MYNN	170987080	1.000000	0.71417	0.950000	0.38849	0.081000	0.17604	2.622000	0.46427	1.235000	0.43724	-0.339000	0.08088	CCT		0.398	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1		NM_018657	
NBPF3	84224	hgsc.bcm.edu	37	1	21806704	21806704	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr1:21806704C>G	ENST00000318249.5	+	11	1719	c.1369C>G	c.(1369-1371)Ctt>Gtt	p.L457V	NBPF3_ENST00000454000.2_Missense_Mutation_p.L387V|NBPF3_ENST00000342104.5_Missense_Mutation_p.L445V|NBPF3_ENST00000318220.6_Missense_Mutation_p.L401V	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	457	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGCTTGGCTCTTGACTTGGA	0.458																																																	0													64.0	35.0	45.0					1																	21806704		2181	4053	6234	SO:0001583	missense	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1369C>G	1.37:g.21806704C>G	ENSP00000316782:p.Leu457Val		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	1.099	-0.661623	0.03454	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.11110	0.0271	L	0.43152	1.355	0.09310	N	1	B;B;B	0.20052	0.014;0.041;0.003	B;B;B	0.21360	0.034;0.018;0.003	T	0.31779	-0.9931	8	0.28530	T	0.3	.	.	.	.	.	387;445;457	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	V	387;401;457;445;401	ENSP00000415711:L387V;ENSP00000316739:L401V;ENSP00000316782:L457V;ENSP00000340336:L445V;ENSP00000391865:L401V	ENSP00000316739:L401V	L	+	1	0	NBPF3	21679291	0.010000	0.17322	0.001000	0.08648	0.013000	0.08279	1.013000	0.29937	0.675000	0.31264	0.121000	0.15741	CTT		0.458	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_032264	
NEK10	152110	hgsc.bcm.edu	37	3	27350480	27350480	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr3:27350480A>T	ENST00000429845.2	-	11	1015	c.653T>A	c.(652-654)cTt>cAt	p.L218H	NEK10_ENST00000341435.5_Missense_Mutation_p.L218H			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	218					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCGGGCACCAAGTAAATTTAC	0.303																																																	0													53.0	48.0	49.0					3																	27350480		1567	3580	5147	SO:0001583	missense	152110			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.653T>A	3.37:g.27350480A>T	ENSP00000395849:p.Leu218His		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37		.	.	.	.	.	.	.	.	.	.	A	23.6	4.437605	0.83885	.	.	ENSG00000163491	ENST00000341435;ENST00000396636	T	0.65916	-0.18	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000016	T	0.77772	0.4180	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.80264	-0.1455	10	0.87932	D	0	.	15.9377	0.79729	1.0:0.0:0.0:0.0	.	218	Q6ZWH5	NEK10_HUMAN	H	218	ENSP00000343847:L218H	ENSP00000343847:L218H	L	-	2	0	NEK10	27325484	1.000000	0.71417	0.897000	0.35233	0.990000	0.78478	6.088000	0.71371	2.159000	0.67721	0.528000	0.53228	CTT		0.303	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1		NM_152534	
NUF2	83540	hgsc.bcm.edu;ucsc.edu	37	1	163297295	163297295	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr1:163297295G>A	ENST00000271452.3	+	3	420	c.141G>A	c.(139-141)atG>atA	p.M47I	NUF2_ENST00000524800.1_Missense_Mutation_p.M47I|NUF2_ENST00000367900.3_Missense_Mutation_p.M47I|NUF2_ENST00000490881.1_3'UTR	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	47	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TCTTGCACATGATCTACATGA	0.333																																																	0													180.0	178.0	179.0					1																	163297295		2203	4300	6503	SO:0001583	missense	83540			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.141G>A	1.37:g.163297295G>A	ENSP00000271452:p.Met47Ile		Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681260	0.47991	.	.	ENSG00000143228	ENST00000534289;ENST00000450453;ENST00000524800;ENST00000442820;ENST00000367900;ENST00000271452	T;T;T	0.32023	1.48;1.47;1.47	5.11	4.17	0.49024	.	0.327366	0.39985	N	0.001214	T	0.14098	0.0341	L	0.53249	1.67	0.37961	D	0.932972	B;B;B	0.33612	0.419;0.419;0.014	B;B;B	0.27076	0.076;0.076;0.022	T	0.06303	-1.0834	9	0.37606	T	0.19	-12.1037	13.0105	0.58729	0.0:0.1625:0.8375:0.0	.	47;47;47	E9PQC4;Q9BZD4;B1AQT4	.;NUF2_HUMAN;.	I	47	ENSP00000436888:M47I;ENSP00000356875:M47I;ENSP00000271452:M47I	ENSP00000271452:M47I	M	+	3	0	NUF2	161563919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.008000	0.63991	1.464000	0.47987	0.655000	0.94253	ATG		0.333	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1		NM_145697	
OR7D2	162998	hgsc.bcm.edu;ucsc.edu	37	19	9296955	9296955	+	Silent	SNP	A	A	G			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr19:9296955A>G	ENST00000344248.2	+	1	677	c.498A>G	c.(496-498)ctA>ctG	p.L166L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	166					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TGATGCATCTAATCTTCTGTA	0.453																																																	0													158.0	153.0	154.0					19																	9296955		2203	4300	6503	SO:0001819	synonymous_variant	162998			AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.498A>G	19.37:g.9296955A>G			Q6IFJ7|Q8N133	Silent	SNP	ENST00000344248.2	37	CCDS32900.1																																																																																				0.453	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			
OSCAR	126014	hgsc.bcm.edu	37	19	54600307	54600307	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr19:54600307G>A	ENST00000284648.6	-	4	412	c.215C>T	c.(214-216)cCc>cTc	p.P72L	OSCAR_ENST00000391761.1_Missense_Mutation_p.P61L|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000356532.3_Missense_Mutation_p.P76L|OSCAR_ENST00000358375.4_Missense_Mutation_p.P72L|OSCAR_ENST00000359649.4_Missense_Mutation_p.P76L|OSCAR_ENST00000351806.4_Missense_Mutation_p.P61L			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	72	Ig-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GAAGAGAAGGGGAGCGATCTC	0.587																																																	0													66.0	67.0	67.0					19																	54600307		2203	4300	6503	SO:0001583	missense	126014			AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.215C>T	19.37:g.54600307G>A	ENSP00000365808:p.Pro72Leu		B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Missense_Mutation	SNP	ENST00000284648.6	37		.	.	.	.	.	.	.	.	.	.	G	9.670	1.146510	0.21288	.	.	ENSG00000170909	ENST00000391761;ENST00000356532;ENST00000359649;ENST00000358375;ENST00000351806;ENST00000284648	T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6	3.73	3.73	0.42828	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.196119	0.24871	U	0.034933	T	0.26159	0.0638	L	0.56340	1.77	0.42570	D	0.993172	D;P;P;D;B;B	0.64830	0.994;0.591;0.744;0.992;0.313;0.226	P;B;P;P;B;B	0.59115	0.852;0.406;0.721;0.77;0.086;0.101	T	0.02059	-1.1221	10	0.72032	D	0.01	.	11.4516	0.50156	0.0:0.0:1.0:0.0	.	72;61;61;76;72;76	Q8IYS5;Q8IYS5-4;Q8IYS5-6;Q8IYS5-7;Q8IYS5-2;Q8IYS5-3	OSCAR_HUMAN;.;.;.;.;.	L	61;76;76;72;61;72	ENSP00000375641:P61L;ENSP00000348927:P76L;ENSP00000352671:P76L;ENSP00000351145:P72L;ENSP00000304523:P61L;ENSP00000365808:P72L	ENSP00000365808:P72L	P	-	2	0	OSCAR	59292119	0.011000	0.17503	0.003000	0.11579	0.057000	0.15508	1.838000	0.39211	1.822000	0.53115	0.585000	0.79938	CCC		0.587	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4		NM_133169	
PARP10	84875	hgsc.bcm.edu	37	8	145057868	145057868	+	Missense_Mutation	SNP	A	A	G	rs11544989	byFrequency	TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr8:145057868A>G	ENST00000313028.7	-	8	1983	c.1889T>C	c.(1888-1890)gTg>gCg	p.V630A	PARP10_ENST00000525773.1_Missense_Mutation_p.V642A|PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000524918.1_Missense_Mutation_p.V621A	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	630	Glu-rich.		V -> A (in dbSNP:rs11544989). {ECO:0000269|PubMed:14702039}.		negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCTGGGGTCACCTCCTCCTC	0.692													G|||	2961	0.591254	0.9198	0.4914	5008	,	,		16220	0.1994		0.5755	False		,,,				2504	0.638																0									ALA/VAL	3847,539		1690,467,36	22.0	20.0	21.0		1889	-6.9	0.0	8	dbSNP_120	21	4916,3616		1442,2032,792	yes	missense	PARP10	NM_032789.3	64	3132,2499,828	GG,GA,AA		42.3816,12.2891,32.1644	benign	630/1026	145057868	8763,4155	2193	4266	6459	SO:0001583	missense	84875			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1889T>C	8.37:g.145057868A>G	ENSP00000325618:p.Val630Ala		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	CCDS34960.1	1178	0.5393772893772893	445	0.9044715447154471	187	0.5165745856353591	108	0.1888111888111888	438	0.5778364116094987	G	0.089	-1.169639	0.01660	0.877109	0.576184	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.09817	2.94;2.94;2.94	3.8	-6.93	0.01638	.	1.544600	0.05087	N	0.484573	T	0.00012	0.0000	N	0.04508	-0.205	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18903	-1.0322	9	0.24483	T	0.36	.	0.563	0.00682	0.3749:0.1777:0.262:0.1855	rs11544989;rs58764065	642;630	E9PNI7;Q53GL7	.;PAR10_HUMAN	A	621;336;630;642	ENSP00000431620:V621A;ENSP00000325618:V630A;ENSP00000434776:V642A	ENSP00000325618:V630A	V	-	2	0	PARP10	145129856	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-3.615000	0.00414	-1.560000	0.01686	-2.796000	0.00114	GTG		0.692	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1		NM_032789	
PDE6C	5146	hgsc.bcm.edu;ucsc.edu	37	10	95372619	95372619	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr10:95372619C>A	ENST00000371447.3	+	1	275	c.137C>A	c.(136-138)tCc>tAc	p.S46Y		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	46					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	CCAGTCCAGTCCAGCATGTCC	0.602																																																	0													99.0	98.0	98.0					10																	95372619		2203	4300	6503	SO:0001583	missense	5146			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.137C>A	10.37:g.95372619C>A	ENSP00000360502:p.Ser46Tyr		A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	C	7.209	0.594978	0.13875	.	.	ENSG00000095464	ENST00000371447	T	0.64438	-0.1	4.77	1.48	0.22813	.	1.147620	0.06246	N	0.691336	T	0.42086	0.1187	N	0.08118	0	0.09310	N	1	B	0.31859	0.343	B	0.30495	0.116	T	0.40040	-0.9584	10	0.59425	D	0.04	.	7.9435	0.29971	0.5396:0.3442:0.1162:0.0	.	46	P51160	PDE6C_HUMAN	Y	46	ENSP00000360502:S46Y	ENSP00000360502:S46Y	S	+	2	0	PDE6C	95362609	0.094000	0.21725	0.004000	0.12327	0.415000	0.31203	0.648000	0.24828	0.566000	0.29273	0.655000	0.94253	TCC		0.602	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1		NM_006204	
PKN1	5585	hgsc.bcm.edu;ucsc.edu	37	19	14580588	14580588	+	Silent	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr19:14580588G>A	ENST00000242783.6	+	17	2343	c.2178G>A	c.(2176-2178)ctG>ctA	p.L726L	PKN1_ENST00000342216.4_Silent_p.L732L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	726	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCGTGGTGCTGGGCCTACAGT	0.597																																					NSCLC(185;2539 2965 10733 52867)												0													120.0	123.0	122.0					19																	14580588		2083	4213	6296	SO:0001819	synonymous_variant	5585			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2178G>A	19.37:g.14580588G>A			A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	CCDS42513.1																																																																																				0.597	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1		NM_002741, NM_213560	
PPEF2	5470	hgsc.bcm.edu	37	4	76797629	76797629	+	Silent	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr4:76797629G>A	ENST00000286719.7	-	11	1487	c.1131C>T	c.(1129-1131)tgC>tgT	p.C377C		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	377	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.C377*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGGAACCGCTGCAGGGGATGC	0.662																																					NSCLC(105;1359 1603 15961 44567 47947)												1	Substitution - Nonsense(1)	ovary(1)											34.0	35.0	35.0					4																	76797629		2203	4300	6503	SO:0001819	synonymous_variant	5470			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1131C>T	4.37:g.76797629G>A			O14831	Silent	SNP	ENST00000286719.7	37	CCDS34013.1																																																																																				0.662	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1		NM_006239	
PRKDC	5591	hgsc.bcm.edu	37	8	48711870	48711870	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr8:48711870A>T	ENST00000314191.2	-	73	10251	c.10195T>A	c.(10195-10197)Tcc>Acc	p.S3399T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S3399T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3400	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CAGCTCCAGGAGGGAGGCTGG	0.587								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													79.0	82.0	81.0					8																	48711870		2002	4174	6176	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10195T>A	8.37:g.48711870A>T	ENSP00000313420:p.Ser3399Thr		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	A	12.44	1.939990	0.34283	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.70045	-0.45;-0.45	5.6	-10.3	0.00346	PIK-related kinase (1);PIK-related kinase, FAT (1);	1.229190	0.05534	N	0.564544	T	0.28333	0.0700	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.14023	0.01;0.01	T	0.21861	-1.0233	10	0.05620	T	0.96	.	2.2404	0.04018	0.5133:0.1617:0.2112:0.1139	.	3399;3400	E7EUY0;P78527	.;PRKDC_HUMAN	T	3399	ENSP00000313420:S3399T;ENSP00000345182:S3399T	ENSP00000313420:S3399T	S	-	1	0	PRKDC	48874423	0.000000	0.05858	0.000000	0.03702	0.405000	0.30901	-0.229000	0.09098	-1.541000	0.01727	0.533000	0.62120	TCC		0.587	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001081640	
PTGFR	5737	hgsc.bcm.edu	37	1	78958515	78958515	+	Silent	SNP	C	C	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr1:78958515C>A	ENST00000370757.3	+	2	324	c.87C>A	c.(85-87)tcC>tcA	p.S29S	PTGFR_ENST00000370758.1_Silent_p.S29S|PTGFR_ENST00000370756.3_Silent_p.S29S	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	29					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	ACCGGCTTTCCGTATTTTTTT	0.438																																																	0													80.0	83.0	82.0					1																	78958515		2203	4300	6503	SO:0001819	synonymous_variant	5737			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.87C>A	1.37:g.78958515C>A			A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Silent	SNP	ENST00000370757.3	37	CCDS686.1																																																																																				0.438	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1		NM_000959	
PTPRB	5787	hgsc.bcm.edu	37	12	70960250	70960250	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr12:70960250A>G	ENST00000261266.5	-	13	3244	c.3215T>C	c.(3214-3216)cTc>cCc	p.L1072P	PTPRB_ENST00000550358.1_Missense_Mutation_p.L1202P|PTPRB_ENST00000538708.1_Intron|PTPRB_ENST00000451516.2_Missense_Mutation_p.L982P|PTPRB_ENST00000550857.1_Missense_Mutation_p.L982P|PTPRB_ENST00000551525.1_Missense_Mutation_p.L1289P|PTPRB_ENST00000334414.6_Missense_Mutation_p.L1290P	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1072	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTGCTAAAGAGGCCTCCACT	0.448																																																	0													168.0	159.0	162.0					12																	70960250		2023	4176	6199	SO:0001583	missense	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3215T>C	12.37:g.70960250A>G	ENSP00000261266:p.Leu1072Pro		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847590	0.71603	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.137984	0.50627	D	0.000107	T	0.68769	0.3037	L	0.59436	1.845	0.80722	D	1	D;P;D;D;D;D	0.76494	0.999;0.93;0.998;0.999;0.999;0.997	D;P;P;D;D;D	0.77557	0.983;0.783;0.879;0.983;0.99;0.947	T	0.70622	-0.4821	10	0.54805	T	0.06	.	15.3774	0.74621	1.0:0.0:0.0:0.0	.	982;1169;1289;1290;1072;1202	P23467-2;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;PTPRB_HUMAN;.	P	1290;982;1202;982;1072;1289;1169	ENSP00000334928:L1290P;ENSP00000393028:L982P;ENSP00000448058:L1202P;ENSP00000447302:L982P;ENSP00000261266:L1072P;ENSP00000448349:L1289P;ENSP00000446982:L1169P	ENSP00000261266:L1072P	L	-	2	0	PTPRB	69246517	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	8.211000	0.89754	2.035000	0.60131	0.533000	0.62120	CTC		0.448	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			
RBBP6	5930	hgsc.bcm.edu;ucsc.edu	37	16	24581248	24581248	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr16:24581248G>C	ENST00000319715.4	+	17	3669	c.3237G>C	c.(3235-3237)caG>caC	p.Q1079H	RBBP6_ENST00000348022.2_Missense_Mutation_p.Q1045H|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1079	Interaction with RB1. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CTTCCTCTCAGAAGGATGAAA	0.408																																																	0													51.0	48.0	49.0					16																	24581248		2195	4300	6495	SO:0001583	missense	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3237G>C	16.37:g.24581248G>C	ENSP00000317872:p.Gln1079His		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889228	0.52014	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.18960	2.21;2.18	5.49	3.47	0.39725	.	0.000000	0.56097	D	0.000040	T	0.28599	0.0708	N	0.24115	0.695	0.35278	D	0.781095	D;D	0.69078	0.997;0.995	D;D	0.81914	0.995;0.99	T	0.31475	-0.9942	10	0.56958	D	0.05	-12.1131	9.4235	0.38565	0.2513:0.0:0.7487:0.0	.	1045;1079	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	H	1079;1045	ENSP00000317872:Q1079H;ENSP00000316291:Q1045H	ENSP00000317872:Q1079H	Q	+	3	2	RBBP6	24488749	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.703000	0.37846	0.587000	0.29643	0.655000	0.94253	CAG		0.408	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2		NM_006910	
RPN1	6184	hgsc.bcm.edu	37	3	128356662	128356662	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr3:128356662C>A	ENST00000296255.3	-	3	661	c.613G>T	c.(613-615)Gat>Tat	p.D205Y	RPN1_ENST00000497289.1_Missense_Mutation_p.D33Y	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	205					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		GCAGGCACATCTCTGAAAGGC	0.537			T	EVI1	AML																																			Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													109.0	104.0	105.0					3																	128356662		2203	4300	6503	SO:0001583	missense	6184				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.613G>T	3.37:g.128356662C>A	ENSP00000296255:p.Asp205Tyr		B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	ENST00000296255.3	37	CCDS3051.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403734	0.83230	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000545956	.	.	.	5.68	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.79639	0.4480	M	0.86028	2.79	0.80722	D	1	D	0.60160	0.987	D	0.65323	0.934	T	0.83056	-0.0150	9	0.62326	D	0.03	-10.6123	14.6127	0.68526	0.0:0.9298:0.0:0.0702	.	205	P04843	RPN1_HUMAN	Y	205;33;179	.	ENSP00000296255:D205Y	D	-	1	0	RPN1	129839352	1.000000	0.71417	0.032000	0.17829	0.970000	0.65996	4.567000	0.60850	1.405000	0.46838	0.591000	0.81541	GAT		0.537	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2		NM_002950	
SCARB1	949	hgsc.bcm.edu;ucsc.edu	37	12	125279747	125279747	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr12:125279747C>A	ENST00000415380.2	-	9	1321	c.1196G>T	c.(1195-1197)gGc>gTc	p.G399V	SCARB1_ENST00000546215.1_Missense_Mutation_p.G399V|SCARB1_ENST00000261693.6_Missense_Mutation_p.G399V|SCARB1_ENST00000376788.1_Missense_Mutation_p.G299V|SCARB1_ENST00000339570.5_Missense_Mutation_p.G399V|SCARB1_ENST00000541205.1_Missense_Mutation_p.G358V|SCARB1_ENST00000544327.1_Missense_Mutation_p.G345V|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000540495.1_Missense_Mutation_p.G362V			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	399					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TCACCCAATGCCTGCGACAGA	0.562																																																	0													158.0	141.0	146.0					12																	125279747		2203	4300	6503	SO:0001583	missense	949			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.1196G>T	12.37:g.125279747C>A	ENSP00000414979:p.Gly399Val		F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37		.	.	.	.	.	.	.	.	.	.	C	15.55	2.867854	0.51588	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495	T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	4.28	4.28	0.50868	.	0.051735	0.85682	D	0.000000	D	0.85168	0.5635	M	0.84948	2.725	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.998;1.0	D;D;D;D;D;D	0.76071	0.981;0.981;0.987;0.987;0.967;0.987	D	0.87607	0.2501	10	0.56958	D	0.05	-38.7076	16.5898	0.84762	0.0:1.0:0.0:0.0	.	358;399;399;399;399;399	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	V	399;399;399;299;399;358;345;362	ENSP00000343795:G399V;ENSP00000414979:G399V;ENSP00000261693:G399V;ENSP00000365984:G299V;ENSP00000442862:G399V;ENSP00000446107:G358V;ENSP00000444851:G345V;ENSP00000443286:G362V	ENSP00000261693:G399V	G	-	2	0	SCARB1	123845700	1.000000	0.71417	0.995000	0.50966	0.327000	0.28475	5.385000	0.66231	2.240000	0.73641	0.485000	0.47835	GGC		0.562	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1		NM_005505	
SENP8	123228	hgsc.bcm.edu;ucsc.edu	37	15	72432093	72432093	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr15:72432093G>C	ENST00000542035.2	+	2	462	c.129G>C	c.(127-129)caG>caC	p.Q43H	SENP8_ENST00000340912.4_Missense_Mutation_p.Q43H|RP11-2I17.4_ENST00000568984.1_RNA|SENP8_ENST00000544411.1_Missense_Mutation_p.Q43H|SENP8_ENST00000544171.1_Missense_Mutation_p.Q43H	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	43	Protease.						cysteine-type peptidase activity (GO:0008234)			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						CCAACAGTCAGTTTCATGACT	0.473																																																	0													164.0	146.0	152.0					15																	72432093		2199	4297	6496	SO:0001583	missense	123228			BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"""NEDD8-specific protease 1"", ""sentrin/SUMO-specific protease SENP8"", ""deneddylase 1"""	608659	"""protease, cysteine, 2 (NEDD8 specific)"", ""SUMO/sentrin specific protease family member 8"""	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.129G>C	15.37:g.72432093G>C	ENSP00000446057:p.Gln43His		Q96QA4	Missense_Mutation	SNP	ENST00000542035.2	37	CCDS10240.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542921	0.27563	.	.	ENSG00000166192	ENST00000542035;ENST00000544411;ENST00000340912;ENST00000544171	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.62	0.324	0.15898	.	0.267510	0.37715	N	0.001964	T	0.18002	0.0432	L	0.36672	1.1	0.43959	D	0.996637	B	0.22604	0.072	B	0.15052	0.012	T	0.10870	-1.0611	10	0.14252	T	0.57	-6.941	7.8625	0.29517	0.2135:0.1181:0.6685:0.0	.	43	Q96LD8	SENP8_HUMAN	H	43	ENSP00000446057:Q43H;ENSP00000441753:Q43H;ENSP00000340505:Q43H;ENSP00000439415:Q43H	ENSP00000340505:Q43H	Q	+	3	2	SENP8	70219147	1.000000	0.71417	0.843000	0.33291	0.902000	0.53008	1.101000	0.31037	0.110000	0.17919	0.655000	0.94253	CAG		0.473	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420036.1		NM_145204	
SLU7	10569	hgsc.bcm.edu;ucsc.edu	37	5	159833540	159833540	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr5:159833540T>G	ENST00000297151.4	-	12	1609	c.1222A>C	c.(1222-1224)Aaa>Caa	p.K408Q		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	408					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTGTCCTTTGATGACTGTC	0.463																																																	0													155.0	130.0	138.0					5																	159833540		2203	4300	6503	SO:0001583	missense	10569			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.1222A>C	5.37:g.159833540T>G	ENSP00000297151:p.Lys408Gln		D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.833956	0.91036	.	.	ENSG00000164609	ENST00000297151	T	0.38560	1.13	6.07	4.91	0.64330	Pre-mRNA splicing Prp18-interacting factor (1);	0.133797	0.64402	D	0.000002	T	0.68348	0.2991	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.74077	-0.3781	10	0.87932	D	0	-7.4224	12.2474	0.54578	0.0:0.0661:0.0:0.9339	.	408	O95391	SLU7_HUMAN	Q	408	ENSP00000297151:K408Q	ENSP00000297151:K408Q	K	-	1	0	SLU7	159766118	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.621000	0.83083	1.114000	0.41781	0.533000	0.62120	AAA		0.463	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1		NM_006425	
TNFRSF21	27242	hgsc.bcm.edu;ucsc.edu	37	6	47251933	47251933	+	Silent	SNP	G	G	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr6:47251933G>A	ENST00000296861.2	-	3	1377	c.984C>T	c.(982-984)atC>atT	p.I328I		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	328					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGGGGCCCTTGATGGGCGTGC	0.562																																																	0													178.0	171.0	173.0					6																	47251933		2203	4300	6503	SO:0001819	synonymous_variant	27242			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.984C>T	6.37:g.47251933G>A			B2RDI9|Q0D2P5|Q96D86	Silent	SNP	ENST00000296861.2	37	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	G	9.303	1.053708	0.19907	.	.	ENSG00000146072	ENST00000419206	.	.	.	5.91	5.04	0.67666	.	.	.	.	.	T	0.68842	0.3045	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74624	-0.3603	5	0.72032	D	0.01	.	15.4258	0.75048	0.0:0.2832:0.7168:0.0	.	.	.	.	L	18	.	ENSP00000390032:S18L	S	-	2	0	TNFRSF21	47359892	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.620000	0.61226	1.480000	0.48289	-0.211000	0.12701	TCA		0.562	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1		NM_014452	
USP9X	8239	hgsc.bcm.edu;ucsc.edu	37	X	41077774	41077774	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chrX:41077774T>C	ENST00000324545.8	+	37	6992	c.6359T>C	c.(6358-6360)aTa>aCa	p.I2120T	USP9X_ENST00000378308.2_Missense_Mutation_p.I2120T	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2120					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.I2113T(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCAAAACTTATAGTCTTTATT	0.433																																					Ovarian(172;1807 2695 35459 49286)												1	Substitution - Missense(1)	lung(1)											230.0	197.0	208.0					X																	41077774		2203	4300	6503	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6359T>C	X.37:g.41077774T>C	ENSP00000316357:p.Ile2120Thr		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.361147	0.82353	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03607	3.87;3.87	5.8	5.8	0.92144	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.08358	0.0208	L	0.59436	1.845	0.80722	D	1	P;P	0.44627	0.804;0.839	P;P	0.45232	0.474;0.448	T	0.03433	-1.1037	10	0.56958	D	0.05	.	15.1123	0.72368	0.0:0.0:0.0:1.0	.	2120;2120	Q93008-1;Q93008	.;USP9X_HUMAN	T	2120	ENSP00000367558:I2120T;ENSP00000316357:I2120T	ENSP00000316357:I2120T	I	+	2	0	USP9X	40962718	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.698000	0.84413	1.952000	0.56665	0.417000	0.27973	ATA		0.433	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4		NM_004652	
ZMAT5	55954	hgsc.bcm.edu	37	22	30134342	30134342	+	Silent	SNP	C	C	A			TCGA-CJ-4881-01A-01D-1373-10	TCGA-CJ-4881-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ae20e2d0-5d39-4a94-a9ff-dee71503cbfe	290dd57c-0f01-431d-8b72-5f25f1a00ca7	g.chr22:30134342C>A	ENST00000344318.3	-	5	476	c.360G>T	c.(358-360)cgG>cgT	p.R120R	ZMAT5_ENST00000397781.3_Silent_p.R120R	NM_001003692.1	NP_001003692.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	120					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CTGAGCTCAGCCGCTTGGCTC	0.662																																																	0													72.0	63.0	66.0					22																	30134342		2203	4300	6503	SO:0001819	synonymous_variant	55954				CCDS13868.1	22q12.2	2013-09-20	2010-09-15		ENSG00000100319	ENSG00000100319		"""Zinc fingers, matrin-type"""	28046	protein-coding gene	gene with protein product	"""U11/U12 snRNP 20K"""					9847074	Standard	NM_019103		Approved	SNRNP20	uc003agn.3	Q9UDW3	OTTHUMG00000151292	ENST00000344318.3:c.360G>T	22.37:g.30134342C>A			A8K9F6	Silent	SNP	ENST00000344318.3	37	CCDS13868.1																																																																																				0.662	ZMAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322114.1		NM_019103	
