#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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
STK31	56164	hgsc.bcm.edu	37	7	23802527	23802527	+	Silent	SNP	C	C	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr7:23802527C>G	ENST00000355870.3	+	11	1520	c.1401C>G	c.(1399-1401)cgC>cgG	p.R467R	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.R444R|STK31_ENST00000433467.2_Silent_p.R467R|STK31_ENST00000354639.3_Silent_p.R444R	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	467						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAATAAACGCTTAAAAACAT	0.284																																																	0			7											60.0	61.0	61.0					7																	23802527		2203	4299	6502	23769052	SO:0001819	synonymous_variant	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1401C>G	7.37:g.23802527C>G			23769052	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	CCDS5386.1																																																																																				0.284	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	
ZNF804B	219578	hgsc.bcm.edu	37	7	88963642	88963642	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr7:88963642A>G	ENST00000333190.4	+	4	1955	c.1346A>G	c.(1345-1347)aAg>aGg	p.K449R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	449							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTTCAAAGCAAGGATGGCCAC	0.398										HNSCC(36;0.09)																																							0			7											73.0	71.0	72.0					7																	88963642		2201	4295	6496	88801578	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1346A>G	7.37:g.88963642A>G	ENSP00000329638:p.Lys449Arg		88801578	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.640877	0.67244	.	.	ENSG00000182348	ENST00000333190	T	0.15372	2.43	5.49	4.35	0.52113	.	0.079395	0.53938	N	0.000052	T	0.21509	0.0518	M	0.81942	2.565	0.39819	D	0.97281	P	0.38110	0.618	B	0.32211	0.142	T	0.09143	-1.0688	10	0.87932	D	0	-13.1028	11.2704	0.49136	0.9294:0.0:0.0706:0.0	.	449	A4D1E1	Z804B_HUMAN	R	449	ENSP00000329638:K449R	ENSP00000329638:K449R	K	+	2	0	ZNF804B	88801578	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	5.822000	0.69265	1.116000	0.41820	0.533000	0.62120	AAG		0.398	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
CDK14	5218	hgsc.bcm.edu	37	7	90585055	90585055	+	Silent	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr7:90585055C>T	ENST00000380050.3	+	9	1001	c.870C>T	c.(868-870)aaC>aaT	p.N290N	CDK14_ENST00000436577.2_Silent_p.N161N|CDK14_ENST00000406263.1_Silent_p.N244N|CDK14_ENST00000265741.3_Silent_p.N272N			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CATACTCCAACGAAGTGGTTA	0.433																																					GBM(83;1228 1256 8311 16577 31299)												0			7											186.0	161.0	169.0					7																	90585055		2203	4300	6503	90422991	SO:0001819	synonymous_variant	0				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.870C>T	7.37:g.90585055C>T			90422991	A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Silent	SNP	ENST00000380050.3	37																																																																																					0.433	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395	
SRPK2	6733	hgsc.bcm.edu	37	7	104783609	104783609	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr7:104783609C>T	ENST00000393651.3	-	10	1069	c.982G>A	c.(982-984)Ggc>Agc	p.G328S	SRPK2_ENST00000489828.1_Missense_Mutation_p.G317S|SRPK2_ENST00000357311.3_Missense_Mutation_p.G317S	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CAGTATTCGCCATCCTGGTCA	0.502																																																	0			7											139.0	125.0	130.0					7																	104783609		2203	4300	6503	104570845	SO:0001583	missense	6733			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.982G>A	7.37:g.104783609C>T	ENSP00000377262:p.Gly328Ser		104570845		Missense_Mutation	SNP	ENST00000393651.3	37	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	C	3.944	-0.013704	0.07681	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828	T;T;T	0.20738	2.05;2.05;2.05	5.57	3.74	0.42951	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.813348	0.11592	N	0.548646	T	0.07188	0.0182	N	0.02539	-0.55	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.16289	0.015;0.004	T	0.40232	-0.9574	10	0.07325	T	0.83	0.1734	6.3588	0.21417	0.1366:0.6616:0.1317:0.0701	.	328;317	P78362-2;P78362	.;SRPK2_HUMAN	S	328;317;317	ENSP00000377262:G328S;ENSP00000349863:G317S;ENSP00000419791:G317S	ENSP00000349863:G317S	G	-	1	0	SRPK2	104570845	0.672000	0.27530	0.085000	0.20634	0.793000	0.44817	2.631000	0.46502	0.691000	0.31592	-0.263000	0.10527	GGC		0.502	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691	
RINT1	60561	hgsc.bcm.edu	37	7	105182974	105182974	+	Missense_Mutation	SNP	T	T	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr7:105182974T>G	ENST00000257700.2	+	4	624	c.393T>G	c.(391-393)atT>atG	p.I131M	RINT1_ENST00000477285.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	131					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCAGCGCCATTAACAGCCATT	0.403																																																	0			7											115.0	110.0	111.0					7																	105182974		2203	4300	6503	104970210	SO:0001583	missense	60561			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.393T>G	7.37:g.105182974T>G	ENSP00000257700:p.Ile131Met		104970210	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	T	7.513	0.655091	0.14580	.	.	ENSG00000135249	ENST00000257700;ENST00000493041	T	0.25749	1.78	4.95	-0.402	0.12404	.	0.056804	0.64402	D	0.000001	T	0.33440	0.0863	L	0.58101	1.795	0.42570	D	0.993179	D	0.57899	0.981	P	0.55455	0.776	T	0.06588	-1.0818	10	0.41790	T	0.15	-20.074	9.5795	0.39479	0.0:0.4655:0.0:0.5345	.	131	Q6NUQ1	RINT1_HUMAN	M	131;100	ENSP00000257700:I131M	ENSP00000257700:I131M	I	+	3	3	RINT1	104970210	0.702000	0.27816	0.725000	0.30721	0.309000	0.27889	0.024000	0.13555	-0.048000	0.13401	0.379000	0.24179	ATT		0.403	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930	
MET	4233	hgsc.bcm.edu	37	7	116417482	116417482	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr7:116417482A>T	ENST00000539704.1	+	0	110				MET_ENST00000318493.6_Missense_Mutation_p.N1118I|MET_ENST00000397752.3_Missense_Mutation_p.N1100I			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase						apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTGTTGGACAATGATGGCAAG	0.333			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0			7											202.0	189.0	193.0					7																	116417482		1842	4088	5930	116204718			8731	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000539704.1:c.-92A>T	7.37:g.116417482A>T			116204718	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000539704.1	37		.	.	.	.	.	.	.	.	.	.	A	11.73	1.725268	0.30593	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	D;D	0.82893	-1.66;-1.66	5.29	-1.64	0.08318	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.454051	0.26394	N	0.024625	T	0.67363	0.2885	L	0.28556	0.865	0.27831	N	0.941447	B;B	0.32573	0.001;0.376	B;B	0.35770	0.002;0.21	T	0.57499	-0.7801	10	0.40728	T	0.16	.	2.7718	0.05336	0.4374:0.1162:0.3337:0.1127	.	1118;1100	P08581-2;P08581	.;MET_HUMAN	I	1100;1118	ENSP00000380860:N1100I;ENSP00000317272:N1118I	ENSP00000317272:N1118I	N	+	2	0	MET	116204718	0.002000	0.14202	0.380000	0.26093	0.997000	0.91878	-0.002000	0.12924	-0.450000	0.07107	0.533000	0.62120	AAT		0.333	MET-202	KNOWN	basic	protein_coding	protein_coding			
CPA1	1357	hgsc.bcm.edu	37	7	130021652	130021652	+	Missense_Mutation	SNP	G	G	A	rs537076438		TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr7:130021652G>A	ENST00000011292.3	+	3	479	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	CPA1_ENST00000484324.1_Missense_Mutation_p.R22Q	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	110					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TTCCGGTCCCGGGCGCGCTCC	0.627											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		17262	0.001		0.0	False		,,,				2504	0.0																0			7											46.0	47.0	46.0					7																	130021652		2203	4300	6503	129808888	SO:0001583	missense	1357				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.329G>A	7.37:g.130021652G>A	ENSP00000011292:p.Arg110Gln	1576	129808888	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	37	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	G	0.947	-0.707737	0.03230	.	.	ENSG00000091704	ENST00000481342;ENST00000011292;ENST00000476062;ENST00000484324	T;T;T;T	0.16324	2.72;2.78;2.35;2.44	5.06	-1.34	0.09143	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (1);	0.719730	0.13956	N	0.351190	T	0.08313	0.0207	L	0.37466	1.105	0.09310	N	1	B;B	0.21688	0.059;0.001	B;B	0.11329	0.006;0.001	T	0.39231	-0.9624	10	0.11485	T	0.65	.	0.5851	0.00718	0.2824:0.1124:0.262:0.3432	.	22;110	B4DDW9;P15085	.;CBPA1_HUMAN	Q	22;110;22;22	ENSP00000420218:R22Q;ENSP00000011292:R110Q;ENSP00000419408:R22Q;ENSP00000419497:R22Q	ENSP00000011292:R110Q	R	+	2	0	CPA1	129808888	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.304000	0.08199	-0.680000	0.05211	-1.516000	0.00938	CGG		0.627	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868	
CNTNAP2	26047	hgsc.bcm.edu	37	7	146536869	146536869	+	Missense_Mutation	SNP	G	G	A	rs138924087		TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr7:146536869G>A	ENST00000361727.3	+	3	791	c.275G>A	c.(274-276)cGg>cAg	p.R92Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	92	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R92Q(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTTGGCAATCGGAAGCAGATC	0.502										HNSCC(39;0.1)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		17468	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	7						G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	82.0	86.0		275	5.8	1.0	7	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTNAP2	NM_014141.5	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	92/1332	146536869	2,13004	2203	4300	6503	146167802	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.275G>A	7.37:g.146536869G>A	ENSP00000354778:p.Arg92Gln		146167802	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	36	5.636114	0.96693	2.27E-4	1.16E-4	ENSG00000174469	ENST00000361727	D	0.98150	-4.75	5.83	5.83	0.93111	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.51477	D	0.000081	D	0.97343	0.9131	L	0.52011	1.625	0.80722	D	1	P	0.51933	0.949	P	0.50754	0.649	D	0.97724	1.0198	10	0.66056	D	0.02	.	18.6885	0.91574	0.0:0.0:1.0:0.0	.	92	Q9UHC6	CNTP2_HUMAN	Q	92	ENSP00000354778:R92Q	ENSP00000354778:R92Q	R	+	2	0	CNTNAP2	146167802	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.760000	0.94817	0.650000	0.86243	CGG		0.502	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
SALL4	57167	hgsc.bcm.edu	37	20	50418828	50418828	+	Silent	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr20:50418828C>T	ENST00000217086.4	-	1	231	c.120G>A	c.(118-120)gcG>gcA	p.A40A	SALL4_ENST00000395997.3_Silent_p.A40A|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Silent_p.A40A	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	40					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCAGCTcccccgccgcgggcg	0.751																																																	0			20											6.0	9.0	8.0					20																	50418828		1894	3857	5751	49852235	SO:0001819	synonymous_variant	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.120G>A	20.37:g.50418828C>T			49852235	A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	CCDS13438.1																																																																																				0.751	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3		
ZFP64	55734	hgsc.bcm.edu	37	20	50701144	50701144	+	Silent	SNP	G	G	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr20:50701144G>A	ENST00000361387.2	-	9	1950	c.1890C>T	c.(1888-1890)gtC>gtT	p.V630V	ZFP64_ENST00000371523.4_Silent_p.V411V|ZFP64_ENST00000371518.2_Intron	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCCCACGGAGACCAGGGTGC	0.602																																																	0			20											43.0	43.0	43.0					20																	50701144		2203	4300	6503	50134551	SO:0001819	synonymous_variant	55734			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1890C>T	20.37:g.50701144G>A			50134551	Q9NTS7|Q9NVH4	Silent	SNP	ENST00000361387.2	37	CCDS13439.1																																																																																				0.602	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197	
ZNF217	7764	hgsc.bcm.edu	37	20	52199015	52199015	+	Silent	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr20:52199015A>G	ENST00000371471.2	-	2	776	c.351T>C	c.(349-351)ccT>ccC	p.P117P	ZNF217_ENST00000302342.3_Silent_p.P117P|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	117					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TTTCCTTGGGAGGTTCTGTTC	0.448																																																	0			20											140.0	123.0	129.0					20																	52199015		2203	4300	6503	51632422	SO:0001819	synonymous_variant	7764			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.351T>C	20.37:g.52199015A>G			51632422	E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	CCDS13443.1																																																																																				0.448	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526	
CABLES2	81928	hgsc.bcm.edu	37	20	60967489	60967489	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr20:60967489C>A	ENST00000279101.5	-	8	1055	c.1047G>T	c.(1045-1047)agG>agT	p.R349S		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	349					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGAACTTCTCCCTGAAGGTCT	0.572																																																	0			20											235.0	207.0	217.0					20																	60967489		2203	4300	6503	60400884	SO:0001583	missense	81928			BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 150"""	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.1047G>T	20.37:g.60967489C>A	ENSP00000279101:p.Arg349Ser		60400884	Q5JWL0|Q9BYK0	Missense_Mutation	SNP	ENST00000279101.5	37	CCDS33503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.71|19.71	3.877590|3.877590	0.72294|0.72294	.|.	.|.	ENSG00000149679|ENSG00000149679	ENST00000453274|ENST00000370560;ENST00000279101	.|T	.|0.18502	.|2.21	5.53|5.53	-2.25|-2.25	0.06888|0.06888	.|Cyclin-like (2);	.|0.251002	.|0.47852	.|D	.|0.000214	T|T	0.18676|0.18676	0.0448|0.0448	L|L	0.53729|0.53729	1.69|1.69	0.50813|0.50813	D|D	0.999897|0.999897	.|P	.|0.45768	.|0.866	.|P	.|0.46208	.|0.507	T|T	0.05784|0.05784	-1.0864|-1.0864	5|10	.|0.66056	.|D	.|0.02	-23.6675|-23.6675	10.8826|10.8826	0.46948|0.46948	0.0:0.332:0.0:0.668|0.0:0.332:0.0:0.668	.|.	.|349	.|Q9BTV7	.|CABL2_HUMAN	V|S	143|137;349	.|ENSP00000279101:R349S	.|ENSP00000279101:R349S	G|R	-|-	2|3	0|2	CABLES2|CABLES2	60400884|60400884	0.749000|0.749000	0.28305|0.28305	0.988000|0.988000	0.46212|0.46212	0.976000|0.976000	0.68499|0.68499	-0.096000|-0.096000	0.11059|0.11059	-0.211000|-0.211000	0.10124|0.10124	-0.345000|-0.345000	0.07892|0.07892	GGG|AGG		0.572	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265	
GAB4	128954	hgsc.bcm.edu	37	22	17445730	17445730	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr22:17445730A>G	ENST00000400588.1	-	8	1509	c.1402T>C	c.(1402-1404)Tcc>Ccc	p.S468P	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	468								p.S468T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GGGTGTTGGGAGGAGCTGGAG	0.587																																																	1	Substitution - Missense(1)	ovary(1)	22											138.0	148.0	145.0					22																	17445730		2187	4293	6480	15825730	SO:0001583	missense	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1402T>C	22.37:g.17445730A>G	ENSP00000383431:p.Ser468Pro		15825730		Missense_Mutation	SNP	ENST00000400588.1	37	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.014036	0.35511	.	.	ENSG00000215568	ENST00000400588	T	0.20332	2.08	1.96	1.96	0.26148	.	0.254391	0.40302	N	0.001138	T	0.28863	0.0716	L	0.46157	1.445	0.46437	D	0.999042	D	0.71674	0.998	D	0.76071	0.987	T	0.22312	-1.0220	10	0.08179	T	0.78	.	7.8586	0.29497	1.0:0.0:0.0:0.0	.	468	Q2WGN9	GAB4_HUMAN	P	468	ENSP00000383431:S468P	ENSP00000383431:S468P	S	-	1	0	GAB4	15825730	1.000000	0.71417	0.988000	0.46212	0.047000	0.14425	3.516000	0.53436	1.144000	0.42321	0.332000	0.21555	TCC		0.587	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882	
CRYBB1	1414	hgsc.bcm.edu	37	22	27008120	27008120	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr22:27008120C>T	ENST00000215939.2	-	3	345	c.215G>A	c.(214-216)cGt>cAt	p.R72H		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	72	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TTCTGCTCGACGGCCCTGGAA	0.577																																																	0			22											74.0	66.0	69.0					22																	27008120		2203	4300	6503	25338120	SO:0001583	missense	1414				CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.215G>A	22.37:g.27008120C>T	ENSP00000215939:p.Arg72His		25338120		Missense_Mutation	SNP	ENST00000215939.2	37	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586190	0.46110	.	.	ENSG00000100122	ENST00000215939	T	0.78003	-1.14	4.02	2.97	0.34412	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.056916	0.64402	D	0.000017	T	0.72851	0.3512	M	0.70787	2.145	0.58432	D	0.999996	B	0.33073	0.396	B	0.25759	0.063	T	0.72636	-0.4233	10	0.48119	T	0.1	.	12.6108	0.56549	0.0:0.8314:0.1686:0.0	.	72	P53674	CRBB1_HUMAN	H	72	ENSP00000215939:R72H	ENSP00000215939:R72H	R	-	2	0	CRYBB1	25338120	0.819000	0.29175	0.743000	0.31040	0.668000	0.39293	1.553000	0.36255	0.861000	0.35504	0.491000	0.48974	CGT		0.577	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887	
ARHGAP5	394	hgsc.bcm.edu	37	14	32561296	32561296	+	Missense_Mutation	SNP	T	T	C	rs200111638		TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr14:32561296T>C	ENST00000345122.3	+	2	1736	c.1421T>C	c.(1420-1422)gTa>gCa	p.V474A	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V474A|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V474A|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V474A	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	474	FF 3.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGCAAAGAGGTATATGGTAGG	0.368																																					NSCLC(9;77 350 3443 29227 41353)												0			14											74.0	77.0	76.0					14																	32561296		2203	4297	6500	31631047	SO:0001583	missense	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1421T>C	14.37:g.32561296T>C	ENSP00000371897:p.Val474Ala		31631047	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311365	0.60414	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	6.02	6.02	0.97574	FF domain (1);	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	L	0.40543	1.245	0.80722	D	1	P;P	0.49961	0.93;0.885	P;P	0.56042	0.79;0.622	T	0.00254	-1.1874	10	0.56958	D	0.05	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	474;474	Q13017-2;Q13017	.;RHG05_HUMAN	A	474	ENSP00000452222:V474A;ENSP00000441692:V474A;ENSP00000371897:V474A;ENSP00000393307:V474A	ENSP00000371897:V474A	V	+	2	0	ARHGAP5	31631047	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.040000	0.89188	2.299000	0.77371	0.528000	0.53228	GTA		0.368	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055	
RALGAPA1	253959	hgsc.bcm.edu	37	14	36104682	36104682	+	Silent	SNP	A	A	G	rs146883356	byFrequency	TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr14:36104682A>G	ENST00000389698.3	-	31	4671	c.4281T>C	c.(4279-4281)aaT>aaC	p.N1427N	RALGAPA1_ENST00000307138.6_Silent_p.N1427N|RALGAPA1_ENST00000382366.3_Silent_p.N1440N|RALGAPA1_ENST00000258840.6_Silent_p.N1474N	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1427	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TATAAATGCAATTGAGAACAG	0.348																																																	0			14						A	,	6,4400	11.4+/-27.6	0,6,2197	42.0	41.0	41.0		4281,4281	-3.0	1.0	14	dbSNP_134	41	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RALGAPA1	NM_014990.1,NM_194301.2	,	0,6,6497	GG,GA,AA		0.0,0.1362,0.0461	,	1427/2037,1427/2084	36104682	6,13000	2203	4300	6503	35174433	SO:0001819	synonymous_variant	0			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4281T>C	14.37:g.36104682A>G			35174433	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	CCDS32065.1																																																																																				0.348	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022	
PTGDR	5729	hgsc.bcm.edu	37	14	52734788	52734788	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr14:52734788G>A	ENST00000306051.2	+	1	358	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	PTGDR_ENST00000553372.1_Missense_Mutation_p.A86T	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	86					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GGTGCTGGCTGCCTACGCTCA	0.622																																																	0			14											78.0	84.0	82.0					14																	52734788		2203	4300	6503	51804538	SO:0001583	missense	5729			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.256G>A	14.37:g.52734788G>A	ENSP00000303424:p.Ala86Thr		51804538	G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	37	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681316	0.68042	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.36699	1.24;1.24	4.83	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.142736	0.32836	N	0.005595	T	0.27798	0.0684	L	0.27053	0.805	0.34015	D	0.651999	P	0.44344	0.833	P	0.49085	0.6	T	0.25779	-1.0122	10	0.13470	T	0.59	-15.4235	7.0568	0.25104	0.0932:0.0:0.7307:0.176	.	86	Q13258	PD2R_HUMAN	T	86	ENSP00000303424:A86T;ENSP00000452408:A86T	ENSP00000303424:A86T	A	+	1	0	PTGDR	51804538	0.038000	0.19896	0.996000	0.52242	0.951000	0.60555	0.292000	0.19011	1.288000	0.44600	0.563000	0.77884	GCC		0.622	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953	
CREB3L3	84699	hgsc.bcm.edu	37	19	4171675	4171675	+	Silent	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr19:4171675C>T	ENST00000078445.2	+	10	1242	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	CREB3L3_ENST00000595923.1_Silent_p.N364N|CREB3L3_ENST00000602257.1_Silent_p.N363N|CREB3L3_ENST00000252587.3_Missense_Mutation_p.T254M|CREB3L3_ENST00000602147.1_Nonsense_Mutation_p.R330*	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	365					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTGCACAACGATGCTGCCT	0.642																																																	0			19											66.0	79.0	74.0					19																	4171675		2198	4288	6486	4122675	SO:0001819	synonymous_variant	84699				CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.1095C>T	19.37:g.4171675C>T			4122675	B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Silent	SNP	ENST00000078445.2	37	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	c	0.543	-0.852716	0.02630	.	.	ENSG00000060566	ENST00000252587	T	0.79554	-1.28	3.53	-1.01	0.10169	.	.	.	.	.	T	0.64238	0.2580	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.51317	-0.8721	6	0.18276	T	0.48	-4.1442	6.0877	0.19976	0.0:0.507:0.0:0.493	.	.	.	.	M	254	ENSP00000252587:T254M	ENSP00000252587:T254M	T	+	2	0	CREB3L3	4122675	0.001000	0.12720	0.433000	0.26760	0.870000	0.49936	-0.758000	0.04766	0.020000	0.15106	-0.993000	0.02533	ACG		0.642	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607	
OR7A5	26659	hgsc.bcm.edu	37	19	14938248	14938248	+	Missense_Mutation	SNP	T	T	A	rs112284734	byFrequency	TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr19:14938248T>A	ENST00000322301.3	-	2	893	c.806A>T	c.(805-807)cAc>cTc	p.H269L	OR7A5_ENST00000594432.1_Missense_Mutation_p.H269L|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	269					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TGCACTTGAGTGTGAGTTGCG	0.483																																																	0			19											94.0	81.0	86.0					19																	14938248		2203	4300	6503	14799248	SO:0001583	missense	26659			X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.806A>T	19.37:g.14938248T>A	ENSP00000316955:p.His269Leu		14799248	B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	t	11.34	1.609869	0.28712	.	.	ENSG00000188269	ENST00000322301	T	0.00069	8.77	3.12	-0.173	0.13322	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.20445	0.575	0.09310	N	1	B	0.23990	0.095	B	0.33254	0.16	T	0.04976	-1.0914	9	0.48119	T	0.1	.	6.5609	0.22485	0.0:0.5426:0.0:0.4574	.	269	Q15622	OR7A5_HUMAN	L	269	ENSP00000316955:H269L	ENSP00000316955:H269L	H	-	2	0	OR7A5	14799248	0.000000	0.05858	0.000000	0.03702	0.320000	0.28249	-0.053000	0.11846	0.050000	0.15949	0.102000	0.15555	CAC		0.483	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506	
CEACAM1	634	hgsc.bcm.edu	37	19	43025479	43025479	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr19:43025479G>T	ENST00000161559.6	-	4	1032	c.898C>A	c.(898-900)Cac>Aac	p.H300N	CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403461.1_Missense_Mutation_p.H300N|CEACAM1_ENST00000403444.3_Missense_Mutation_p.H300N|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.H260N|CEACAM1_ENST00000358394.3_Missense_Mutation_p.H300N|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000352591.5_Missense_Mutation_p.H300N|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000599389.1_Missense_Mutation_p.H300N	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	300	Ig-like C2-type 2.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TTATTGGCGTGGCAGGTATAG	0.453																																																	0			19											182.0	164.0	170.0					19																	43025479		2203	4300	6503	47717319	SO:0001583	missense	634			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.898C>A	19.37:g.43025479G>T	ENSP00000161559:p.His300Asn		47717319	A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	g	9.921	1.212162	0.22289	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73	4.9	-3.21	0.05140	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.08891	0.0220	N	0.26042	0.785	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.33073	0.228;0.332;0.228;0.228;0.228;0.11;0.01;0.11;0.396	B;B;B;B;B;B;B;B;B	0.41135	0.236;0.076;0.133;0.185;0.185;0.236;0.017;0.185;0.348	T	0.40515	-0.9559	9	0.27785	T	0.31	.	1.4872	0.02449	0.2517:0.2385:0.3811:0.1287	.	300;300;300;300;300;300;300;300;300	P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;CEAM1_HUMAN	N	300;300;327;260;300;300;300;260;300;300;300	ENSP00000161559:H300N;ENSP00000351165:H300N;ENSP00000244291:H300N;ENSP00000384709:H300N;ENSP00000384083:H300N;ENSP00000312184:H260N	ENSP00000161559:H300N	H	-	1	0	CEACAM1	47717319	0.004000	0.15560	0.024000	0.17045	0.086000	0.17979	-0.611000	0.05622	-0.201000	0.10284	-0.280000	0.10049	CAC		0.453	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712	
LIG1	3978	hgsc.bcm.edu	37	19	48657141	48657141	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr19:48657141T>C	ENST00000263274.7	-	6	873	c.454A>G	c.(454-456)Aag>Gag	p.K152E	LIG1_ENST00000536218.1_Intron|LIG1_ENST00000599165.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.K122E	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	152			K -> E (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.K152E(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	tcctcctccttcttcctcttg	0.582								Nucleotide excision repair (NER)																																									1	Substitution - Missense(1)	large_intestine(1)	19											196.0	113.0	141.0					19																	48657141		2203	4300	6503	53348953	SO:0001583	missense	26018				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.454A>G	19.37:g.48657141T>C	ENSP00000263274:p.Lys152Glu		53348953	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	T	6.303	0.423919	0.11928	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526	T;T	0.58506	0.44;0.33	3.99	3.99	0.46301	.	0.866238	0.10215	N	0.701604	T	0.46908	0.1417	L	0.54323	1.7	0.80722	D	1	B;B	0.30482	0.281;0.231	B;B	0.27608	0.081;0.027	T	0.33445	-0.9868	10	0.05959	T	0.93	-18.4584	9.5636	0.39385	0.0:0.0:0.0:1.0	.	122;152	B4DTU4;P18858	.;DNLI1_HUMAN	E	152;184;122	ENSP00000263274:K152E;ENSP00000442841:K122E	ENSP00000263274:K152E	K	-	1	0	LIG1	53348953	0.563000	0.26594	0.998000	0.56505	0.189000	0.23516	1.790000	0.38734	2.028000	0.59812	0.496000	0.49642	AAG		0.582	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234	
ESCO2	157570	hgsc.bcm.edu	37	8	27634264	27634264	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr8:27634264A>G	ENST00000305188.8	+	3	677	c.439A>G	c.(439-441)Aag>Gag	p.K147E	ESCO2_ENST00000523910.1_3'UTR|RNU6-1276P_ENST00000365372.1_RNA|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	147					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TTTAACTGCTAAGTATCAACC	0.358									SC Phocomelia syndrome																																								0			8											54.0	51.0	52.0					8																	27634264		2203	4300	6503	27690183	SO:0001583	missense	157570	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.439A>G	8.37:g.27634264A>G	ENSP00000306999:p.Lys147Glu		27690183	B3KW59|Q49AP4	Missense_Mutation	SNP	ENST00000305188.8	37	CCDS34872.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.117277	0.56505	.	.	ENSG00000171320	ENST00000523566;ENST00000305188	T;T	0.67171	0.66;-0.25	5.93	5.93	0.95920	.	0.487974	0.23070	N	0.052278	T	0.78629	0.4313	M	0.67953	2.075	0.80722	D	1	D;P	0.65815	0.995;0.952	D;B	0.66196	0.942;0.339	T	0.79983	-0.1573	10	0.62326	D	0.03	-10.7085	12.7654	0.57388	1.0:0.0:0.0:0.0	.	147;147	E5RFE4;Q56NI9	.;ESCO2_HUMAN	E	147	ENSP00000428435:K147E;ENSP00000306999:K147E	ENSP00000306999:K147E	K	+	1	0	ESCO2	27690183	1.000000	0.71417	0.990000	0.47175	0.878000	0.50629	4.546000	0.60705	2.273000	0.75805	0.482000	0.46254	AAG		0.358	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420	
CNGB3	54714	hgsc.bcm.edu	37	8	87738778	87738778	+	Missense_Mutation	SNP	C	C	T	rs146688972	byFrequency	TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr8:87738778C>T	ENST00000320005.5	-	3	366	c.319G>A	c.(319-321)Ggg>Agg	p.G107R	RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	107			G -> R (in ACHM3; unknown pathological significance; dbSNP:rs146688972). {ECO:0000269|PubMed:15712225}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.G107R(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CCTTCTTTCCCGGGGTCCATT	0.458													C|||	4	0.000798722	0.0	0.0043	5008	,	,		17451	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)	8						C	ARG/GLY	3,4403	6.2+/-15.9	0,3,2200	285.0	267.0	273.0		319	1.8	0.0	8	dbSNP_134	273	8,8592	6.4+/-24.3	0,8,4292	yes	missense	CNGB3	NM_019098.4	125	0,11,6492	TT,TC,CC		0.093,0.0681,0.0846	benign	107/810	87738778	11,12995	2203	4300	6503	87807894	SO:0001583	missense	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.319G>A	8.37:g.87738778C>T	ENSP00000316605:p.Gly107Arg		87807894	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	C	7.794	0.712236	0.15306	6.81E-4	9.3E-4	ENSG00000170289	ENST00000320005	T	0.61510	0.1	5.71	1.76	0.24704	.	0.985643	0.08227	N	0.978212	T	0.34048	0.0884	L	0.38838	1.175	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.22068	-1.0227	10	0.19590	T	0.45	.	4.8138	0.13356	0.1478:0.6098:0.0:0.2424	.	107	Q9NQW8	CNGB3_HUMAN	R	107	ENSP00000316605:G107R	ENSP00000316605:G107R	G	-	1	0	CNGB3	87807894	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.118000	0.15605	0.338000	0.23692	-0.140000	0.14226	GGG		0.458	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	
SLC26A7	115111	hgsc.bcm.edu	37	8	92301370	92301370	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr8:92301370C>A	ENST00000276609.3	+	3	439	c.200C>A	c.(199-201)gCc>gAc	p.A67D	SLC26A7_ENST00000523719.1_Missense_Mutation_p.A67D|SLC26A7_ENST00000309536.2_Missense_Mutation_p.A67D	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACAGGATTGGCCTTTGCTGTT	0.398																																																	0			8											238.0	214.0	222.0					8																	92301370		2203	4300	6503	92370546	SO:0001583	missense	115111			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.200C>A	8.37:g.92301370C>A	ENSP00000276609:p.Ala67Asp		92370546		Missense_Mutation	SNP	ENST00000276609.3	37	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506888	0.85282	.	.	ENSG00000147606	ENST00000522862;ENST00000523719;ENST00000276609;ENST00000309536	D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66	6.17	5.28	0.74379	.	0.338048	0.28198	N	0.016238	D	0.96846	0.8970	H	0.97023	3.925	0.31631	N	0.649018	P;P	0.51147	0.879;0.942	B;P	0.45276	0.295;0.475	D	0.97365	0.9972	10	0.87932	D	0	.	16.4093	0.83701	0.0:0.8681:0.1319:0.0	.	67;67	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	D	67	ENSP00000428881:A67D;ENSP00000428849:A67D;ENSP00000276609:A67D;ENSP00000309504:A67D	ENSP00000276609:A67D	A	+	2	0	SLC26A7	92370546	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.748000	0.62148	1.578000	0.49821	0.655000	0.94253	GCC		0.398	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1		
CDK11A	728642	hgsc.bcm.edu	37	1	1653140	1653140	+	Missense_Mutation	SNP	C	C	A	rs200953503		TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr1:1653140C>A	ENST00000378633.1	-	3	201	c.122G>T	c.(121-123)cGg>cTg	p.R41L	CDK11A_ENST00000356200.3_Missense_Mutation_p.R7L|CDK11A_ENST00000378635.3_Missense_Mutation_p.R41L|CDK11A_ENST00000357760.2_Missense_Mutation_p.R41L|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Missense_Mutation_p.R41L|CDK11A_ENST00000404249.3_Missense_Mutation_p.R41L|RP1-283E3.4_ENST00000417099.1_RNA|CDK11A_ENST00000378638.2_Missense_Mutation_p.R7L			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	41	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						cttggaatcccggtcatcaga	0.388																																					Pancreas(186;965 2119 30274 40311 50569)												0			1											55.0	47.0	49.0					1																	1653140		1803	4053	5856	1643000	SO:0001583	missense	0			AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.122G>T	1.37:g.1653140C>A	ENSP00000367900:p.Arg41Leu		1643000	O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37		.	.	.	.	.	.	.	.	.	.	c	17.18	3.324699	0.60634	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630;ENST00000378635;ENST00000479362	T;T;T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54;2.54;2.54	3.09	3.09	0.35607	.	0.072136	0.53938	D	0.000041	T	0.23926	0.0579	L	0.32530	0.975	0.42889	D	0.994192	P;D;P;D;D;D;D;D;D;D;D	0.71674	0.911;0.982;0.952;0.969;0.982;0.992;0.987;0.998;0.998;0.992;0.997	B;P;P;P;P;D;D;D;P;D;P	0.70487	0.392;0.598;0.74;0.682;0.831;0.969;0.931;0.943;0.875;0.969;0.834	T	0.02526	-1.1146	10	0.46703	T	0.11	.	13.3368	0.60522	0.0:1.0:0.0:0.0	.	41;41;41;41;41;41;7;41;41;7;41	B4E0M9;B4E0N4;E7ESP2;Q5QPR3;Q9UQ88-2;Q9UQ88-4;Q5QPR4;P21127-3;Q9UQ88;P21127-6;P21127-2	.;.;.;.;.;.;.;.;CD11A_HUMAN;.;.	L	7;41;41;41;41;7;7;41;41	ENSP00000348529:R7L;ENSP00000384442:R41L;ENSP00000350403:R41L;ENSP00000351629:R41L;ENSP00000367900:R41L;ENSP00000367905:R7L;ENSP00000367902:R41L;ENSP00000423900:R41L	ENSP00000348529:R7L	R	-	2	0	CDK11A	1643000	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	4.760000	0.62235	1.567000	0.49668	0.398000	0.26397	CGG		0.388	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011	
PTCHD2	57540	hgsc.bcm.edu	37	1	11579845	11579845	+	Missense_Mutation	SNP	C	C	T	rs370213637		TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr1:11579845C>T	ENST00000294484.6	+	9	2246	c.2108C>T	c.(2107-2109)aCg>aTg	p.T703M	PTCHD2_ENST00000389575.3_Missense_Mutation_p.T703M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	703					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCTCCAACACGGGCAGCCGC	0.657																																																	0			1											60.0	72.0	68.0					1																	11579845		2109	4223	6332	11502432	SO:0001583	missense	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2108C>T	1.37:g.11579845C>T	ENSP00000294484:p.Thr703Met		11502432	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	5.791	0.330187	0.10956	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.89810	-2.57;-2.57	5.27	-2.4	0.06583	.	0.818608	0.11675	N	0.540422	T	0.74749	0.3757	N	0.08118	0	0.09310	N	1	B	0.32939	0.391	B	0.34991	0.193	T	0.65323	-0.6196	10	0.48119	T	0.1	-0.2748	7.5277	0.27664	0.0876:0.545:0.2603:0.1071	.	703	Q9P2K9	PTHD2_HUMAN	M	703	ENSP00000294484:T703M;ENSP00000374226:T703M	ENSP00000294484:T703M	T	+	2	0	PTCHD2	11502432	0.025000	0.19082	0.000000	0.03702	0.011000	0.07611	0.181000	0.16880	-0.309000	0.08779	-1.157000	0.01802	ACG		0.657	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561	
PRAMEF12	390999	hgsc.bcm.edu	37	1	12835687	12835687	+	Splice_Site	SNP	C	C	T	rs375662448	byFrequency	TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr1:12835687C>T	ENST00000357726.4	+	2	316	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	97					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TACCCACAGGCGGTGGAAACT	0.517													C|||	3	0.000599042	0.0015	0.0	5008	,	,		20101	0.001		0.0	False		,,,				2504	0.0																0			1						C	TRP/ARG	0,4312		0,0,2156	140.0	160.0	153.0		289	-3.0	0.0	1		153	1,8569		0,1,4284	no	missense-near-splice	PRAMEF12	NM_001080830.1	101	0,1,6440	TT,TC,CC		0.0117,0.0,0.0078	benign	97/484	12835687	1,12881	2156	4285	6441	12758274	SO:0001630	splice_region_variant	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.288-1C>T	1.37:g.12835687C>T			12758274		Missense_Mutation	SNP	ENST00000357726.4	37	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	9.429	1.084967	0.20390	0.0	1.17E-4	ENSG00000116726	ENST00000357726	T	0.05081	3.5	2.8	-2.99	0.05497	.	0.177429	0.46442	D	0.000282	T	0.09335	0.0230	M	0.87547	2.89	0.09310	N	1	B	0.21606	0.058	B	0.21546	0.035	T	0.21042	-1.0257	10	0.87932	D	0	.	5.8088	0.18454	0.271:0.5608:0.0:0.1683	.	97	O95522	PRA12_HUMAN	W	97	ENSP00000350358:R97W	ENSP00000350358:R97W	R	+	1	2	PRAMEF12	12758274	0.007000	0.16637	0.001000	0.08648	0.060000	0.15804	0.046000	0.14035	-0.674000	0.05253	0.313000	0.20887	CGG		0.517	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760	Missense_Mutation
RPL11	6135	hgsc.bcm.edu	37	1	24021271	24021271	+	Missense_Mutation	SNP	A	A	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr1:24021271A>T	ENST00000374550.3	+	4	431	c.386A>T	c.(385-387)gAc>gTc	p.D129V	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	129					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		TACGGCCTGGACTTCTATGTG	0.413																																																	0			1											141.0	134.0	137.0					1																	24021271		2203	4300	6503	23893858	SO:0001583	missense	6135			L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.386A>T	1.37:g.24021271A>T	ENSP00000363676:p.Asp129Val		23893858	P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	ENST00000374550.3	37	CCDS238.1	.	.	.	.	.	.	.	.	.	.	a	31	5.074392	0.94000	.	.	ENSG00000142676	ENST00000374550;ENST00000443624;ENST00000458455	T;T;T	0.80994	-1.44;-1.44;-1.44	5.94	5.94	0.96194	Ribosomal protein L5 domain (2);	0.000000	0.85682	D	0.000000	D	0.94272	0.8160	H	0.98996	4.395	0.80722	D	1	D;D	0.64830	0.993;0.994	D;D	0.85130	0.995;0.997	D	0.96517	0.9383	10	0.87932	D	0	-14.9648	16.4114	0.83713	1.0:0.0:0.0:0.0	.	128;129	P62913-2;P62913	.;RL11_HUMAN	V	129;127;127	ENSP00000363676:D129V;ENSP00000390839:D127V;ENSP00000398888:D127V	ENSP00000363676:D129V	D	+	2	0	RPL11	23893858	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.143000	0.94623	2.276000	0.75962	0.529000	0.55759	GAC		0.413	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975	
MACF1	23499	hgsc.bcm.edu	37	1	39905072	39905072	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr1:39905072C>T	ENST00000372915.3	+	71	18131	c.18044C>T	c.(18043-18045)gCt>gTt	p.A6015V	MACF1_ENST00000289893.4_Missense_Mutation_p.A4559V|MACF1_ENST00000545844.1_Missense_Mutation_p.A4057V|MACF1_ENST00000317713.7_Missense_Mutation_p.A4057V|MACF1_ENST00000539005.1_Missense_Mutation_p.A3927V|MACF1_ENST00000567887.1_Missense_Mutation_p.A6153V|MACF1_ENST00000564288.1_Missense_Mutation_p.A6116V|MACF1_ENST00000361689.2_Missense_Mutation_p.A4057V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6015					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.A4057G(1)|p.A4559G(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACATGGCAGCTCTCCTGACC	0.458																																																	2	Substitution - Missense(2)	ovary(2)	1											86.0	81.0	83.0					1																	39905072		2203	4300	6503	39677659	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18044C>T	1.37:g.39905072C>T	ENSP00000362006:p.Ala6015Val		39677659	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	36	5.644298	0.96704	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000007	T	0.67277	0.2876	M	0.64997	1.995	0.80722	D	1	D;D	0.69078	0.997;0.991	D;D	0.65773	0.913;0.938	T	0.67616	-0.5625	10	0.66056	D	0.02	.	19.9826	0.97334	0.0:1.0:0.0:0.0	.	6015;4057	Q9UPN3;F8W8Q1	MACF1_HUMAN;.	V	4057;6015;4057;4057;3927;4559	ENSP00000439537:A4057V;ENSP00000362006:A6015V;ENSP00000354573:A4057V;ENSP00000313438:A4057V;ENSP00000444364:A3927V;ENSP00000289893:A4559V	ENSP00000289893:A4559V	A	+	2	0	MACF1	39677659	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.734000	0.93682	0.650000	0.86243	GCT		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
HECTD3	79654	hgsc.bcm.edu	37	1	45475351	45475351	+	Missense_Mutation	SNP	T	T	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr1:45475351T>G	ENST00000372172.4	-	5	835	c.764A>C	c.(763-765)gAg>gCg	p.E255A	UROD_ENST00000246337.4_5'Flank|HECTD3_ENST00000372168.3_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	255	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CACGTTGAACTCCTCCTGGGG	0.582																																																	0			1											55.0	54.0	55.0					1																	45475351		2118	4213	6331	45247938	SO:0001583	missense	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.764A>C	1.37:g.45475351T>G	ENSP00000361245:p.Glu255Ala		45247938	B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.213400	0.39102	.	.	ENSG00000126107	ENST00000372172	T	0.70516	-0.49	4.9	4.9	0.64082	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	1.043500	0.07480	N	0.903639	T	0.74045	0.3665	M	0.65975	2.015	0.80722	D	1	B	0.29481	0.245	B	0.32090	0.14	T	0.66372	-0.5940	10	0.72032	D	0.01	.	14.8076	0.69968	0.0:0.0:0.0:1.0	.	255	Q5T447	HECD3_HUMAN	A	255	ENSP00000361245:E255A	ENSP00000361245:E255A	E	-	2	0	HECTD3	45247938	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.700000	0.74619	1.965000	0.57142	0.460000	0.39030	GAG		0.582	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602	
CCDC18	343099	hgsc.bcm.edu	37	1	93680443	93680443	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr1:93680443G>T	ENST00000343253.7	+	12	2138	c.1636G>T	c.(1636-1638)Gct>Tct	p.A546S	CCDC18_ENST00000401026.3_Missense_Mutation_p.A547S|CCDC18_ENST00000338949.4_Missense_Mutation_p.A346S|CCDC18_ENST00000557479.1_Missense_Mutation_p.A665S|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	546								p.A665T(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GGTTAACATGGCTCACAGAAC	0.383																																																	1	Substitution - Missense(1)	ovary(1)	1											51.0	49.0	50.0					1																	93680443		1844	4098	5942	93453031	SO:0001583	missense	343099					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1636G>T	1.37:g.93680443G>T	ENSP00000343377:p.Ala546Ser		93453031	Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.60|14.60	2.585289|2.585289	0.46110|0.46110	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267|ENST00000370276	T;T;T;T;T|.	0.18810|.	2.19;2.19;2.19;2.19;2.19|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.196285|.	0.42548|.	D|.	0.000694|.	T|T	0.55257|0.55257	0.1909|0.1909	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;D|.	0.59767|.	0.932;0.986|.	P;P|.	0.53593|.	0.647;0.73|.	T|T	0.55354|0.55354	-0.8154|-0.8154	10|5	0.18276|.	T|.	0.48|.	.|.	13.0106|13.0106	0.58729|0.58729	0.0777:0.0:0.9223:0.0|0.0777:0.0:0.9223:0.0	.|.	546;665|.	Q5T9S5;G3V388|.	CCD18_HUMAN;.|.	S|C	546;547;665;346;266|599	ENSP00000343377:A546S;ENSP00000383808:A547S;ENSP00000451099:A665S;ENSP00000344380:A346S;ENSP00000391151:A266S|.	ENSP00000344380:A346S|.	A|W	+|+	1|3	0|0	CCDC18|CCDC18	93453031|93453031	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.057000|3.057000	0.49931|0.49931	2.373000|2.373000	0.80994|0.80994	0.655000|0.655000	0.94253|0.94253	GCT|TGG		0.383	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	
HIST2H2AC	8338	hgsc.bcm.edu	37	1	149858598	149858598	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr1:149858598A>G	ENST00000331380.2	+	1	74	c.74A>G	c.(73-75)cAg>cGg	p.Q25R	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	25						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCTGGCCTCCAGTTCCCGGTA	0.652																																																	0			1											68.0	75.0	72.0					1																	149858598		2203	4299	6502	148125222	SO:0001583	missense	8338			AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.74A>G	1.37:g.149858598A>G	ENSP00000332194:p.Gln25Arg		148125222	Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	CCDS937.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.213734	0.58452	.	.	ENSG00000184260	ENST00000331380	T	0.66995	-0.24	5.81	4.66	0.58398	Histone-fold (2);Histone core (1);Histone H2A (3);	0.000000	0.42053	D	0.000761	T	0.78848	0.4348	H	0.95470	3.675	0.41055	D	0.985331	P	0.35793	0.521	P	0.50405	0.64	T	0.82303	-0.0524	10	0.87932	D	0	.	12.0124	0.53295	0.855:0.145:0.0:0.0	.	25	Q16777	H2A2C_HUMAN	R	25	ENSP00000332194:Q25R	ENSP00000332194:Q25R	Q	+	2	0	HIST2H2AC	148125222	1.000000	0.71417	0.989000	0.46669	0.940000	0.58332	6.119000	0.71590	0.995000	0.38917	0.533000	0.62120	CAG		0.652	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517	
ZNF648	127665	hgsc.bcm.edu	37	1	182025552	182025552	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr1:182025552A>G	ENST00000339948.3	-	2	1801	c.1594T>C	c.(1594-1596)Tac>Cac	p.Y532H		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	532					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TCACACTGGTAGGGCCTCTCT	0.622																																					NSCLC(71;908 1374 5429 20458 35642)												0			1											168.0	133.0	145.0					1																	182025552		2203	4300	6503	180292175	SO:0001583	missense	127665			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1594T>C	1.37:g.182025552A>G	ENSP00000344129:p.Tyr532His		180292175	B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.802173	0.50315	.	.	ENSG00000179930	ENST00000339948	T	0.21734	1.99	2.77	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26231	0.0640	L	0.33137	0.985	0.29422	N	0.860488	P	0.52061	0.95	P	0.57468	0.821	T	0.11203	-1.0597	9	0.72032	D	0.01	.	7.2646	0.26222	0.7746:0.2254:0.0:0.0	.	532	Q5T619	ZN648_HUMAN	H	532	ENSP00000344129:Y532H	ENSP00000344129:Y532H	Y	-	1	0	ZNF648	180292175	0.506000	0.26139	0.991000	0.47740	0.971000	0.66376	3.612000	0.54142	0.430000	0.26230	0.533000	0.62120	TAC		0.622	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597	
CDC73	79577	hgsc.bcm.edu	37	1	193094270	193094270	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr1:193094270T>C	ENST00000367435.3	+	2	344	c.160T>C	c.(160-162)Tac>Cac	p.Y54H		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	54					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						ACCCAGAGAGTACTACACATT	0.353																																																	0			1											144.0	143.0	143.0					1																	193094270		2203	4300	6503	191360893	SO:0001583	missense	79577			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.160T>C	1.37:g.193094270T>C	ENSP00000356405:p.Tyr54His		191360893	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.790854	0.90367	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.86497	-2.13	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.93585	0.7952	M	0.83483	2.645	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.94210	0.7458	10	0.66056	D	0.02	-8.6067	16.3009	0.82811	0.0:0.0:0.0:1.0	.	54	Q6P1J9	CDC73_HUMAN	H	54	ENSP00000356405:Y54H	ENSP00000356405:Y54H	Y	+	1	0	CDC73	191360893	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.768000	0.85345	2.246000	0.74042	0.533000	0.62120	TAC		0.353	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529	
PTPRC	5788	hgsc.bcm.edu	37	1	198668819	198668819	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr1:198668819G>A	ENST00000367376.2	+	5	590	c.419G>A	c.(418-420)aGc>aAc	p.S140N	PTPRC_ENST00000352140.3_Missense_Mutation_p.S140N|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.S142N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	140					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACCCCAGGCAGCAATGCTATC	0.512											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			1											111.0	115.0	113.0					1																	198668819		2203	4300	6503	196935442	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.419G>A	1.37:g.198668819G>A	ENSP00000356346:p.Ser140Asn	2100	196935442	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	G	10.67	1.416047	0.25552	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000530727;ENST00000442510;ENST00000367367	T	0.02606	4.23	5.33	-0.533	0.11887	.	1.774010	0.02493	N	0.089646	T	0.03520	0.0101	L	0.47716	1.5	0.09310	N	1	P;P;P;P;B;B	0.47302	0.893;0.828;0.61;0.61;0.255;0.255	B;B;B;B;B;B	0.40134	0.32;0.17;0.145;0.127;0.045;0.071	T	0.38243	-0.9670	10	0.42905	T	0.14	.	3.2344	0.06760	0.1618:0.2573:0.4621:0.1188	.	76;76;76;181;140;140	F5GXZ3;B4DSZ5;Q5T9M4;Q6Q1P2;E9PC28;P08575	.;.;.;.;.;PTPRC_HUMAN	N	142;76;140;140;181;74;140;74	ENSP00000193532:S140N	ENSP00000271610:S181N	S	+	2	0	PTPRC	196935442	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.033000	0.12246	0.191000	0.20236	0.555000	0.69702	AGC		0.512	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
GREM2	64388	hgsc.bcm.edu	37	1	240656552	240656552	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr1:240656552G>A	ENST00000318160.4	-	2	490	c.224C>T	c.(223-225)aCg>aTg	p.T75M		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	75	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CAGCGGCTGCGTCTTGCACCA	0.647																																																	0			1											51.0	51.0	51.0					1																	240656552		2203	4300	6503	238723175	SO:0001583	missense	64388			AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.224C>T	1.37:g.240656552G>A	ENSP00000318650:p.Thr75Met		238723175	Q86UD9	Missense_Mutation	SNP	ENST00000318160.4	37	CCDS31070.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126793	0.94429	.	.	ENSG00000180875	ENST00000318160	T	0.35421	1.31	5.03	5.03	0.67393	DAN (1);Cystine knot, C-terminal (2);	0.000000	0.85682	U	0.000000	T	0.63426	0.2510	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68872	-0.5294	10	0.87932	D	0	-24.8534	18.3609	0.90374	0.0:0.0:1.0:0.0	.	75	Q9H772	GREM2_HUMAN	M	75	ENSP00000318650:T75M	ENSP00000318650:T75M	T	-	2	0	GREM2	238723175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.635000	0.98437	2.327000	0.79052	0.557000	0.71058	ACG		0.647	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469	
KMO	8564	hgsc.bcm.edu	37	1	241753350	241753350	+	Missense_Mutation	SNP	C	C	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr1:241753350C>G	ENST00000366559.4	+	13	1446	c.1135C>G	c.(1135-1137)Cag>Gag	p.Q379E	KMO_ENST00000366558.3_Intron|KMO_ENST00000366557.4_Intron	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GTTCATTTTTCAGAAGAACAT	0.393																																																	0			1											146.0	140.0	142.0					1																	241753350		2203	4300	6503	239819973	SO:0001583	missense	8564			AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.1135C>G	1.37:g.241753350C>G	ENSP00000355517:p.Gln379Glu		239819973		Missense_Mutation	SNP	ENST00000366559.4	37	CCDS1618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.57|12.57	1.977307|1.977307	0.34848|0.34848	.|.	.|.	ENSG00000117009|ENSG00000117009	ENST00000366559|ENST00000366555	T|.	0.41758|.	0.99|.	5.71|5.71	4.8|4.8	0.61643|0.61643	.|.	0.346172|.	0.30446|.	N|.	0.009620|.	T|.	0.62085|.	0.2399|.	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	B;B|.	0.17038|.	0.02;0.02|.	B;B|.	0.10450|.	0.005;0.005|.	T|.	0.60464|.	-0.7258|.	10|.	0.87932|.	D|.	0|.	.|.	10.4131|10.4131	0.44305|0.44305	0.0:0.9107:0.0:0.0893|0.0:0.9107:0.0:0.0893	.|.	379;379|.	O15229;A8K693|.	KMO_HUMAN;.|.	E|X	379|64	ENSP00000355517:Q379E|.	ENSP00000355517:Q379E|.	Q|S	+|+	1|2	0|0	KMO|KMO	239819973|239819973	1.000000|1.000000	0.71417|0.71417	0.735000|0.735000	0.30896|0.30896	0.509000|0.509000	0.34042|0.34042	2.987000|2.987000	0.49378|0.49378	1.413000|1.413000	0.46997|0.46997	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.393	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679	
CHML	1122	hgsc.bcm.edu	37	1	241797528	241797528	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr1:241797528G>T	ENST00000366553.1	-	1	1704	c.1541C>A	c.(1540-1542)tCt>tAt	p.S514Y	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	514					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.S514C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGTTTTAGAAGATGAACATGT	0.408																																																	1	Substitution - Missense(1)	ovary(1)	1											83.0	78.0	80.0					1																	241797528		2203	4299	6502	239864151	SO:0001583	missense	1122			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1541C>A	1.37:g.241797528G>T	ENSP00000355511:p.Ser514Tyr		239864151	B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.448002	0.63178	.	.	ENSG00000203668	ENST00000366553	D	0.84370	-1.84	5.08	5.08	0.68730	.	0.000000	0.85682	U	0.000000	D	0.92388	0.7584	.	.	.	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	D	0.92741	0.6208	9	0.66056	D	0.02	-13.9275	16.3808	0.83460	0.0:0.0:1.0:0.0	.	514	P26374	RAE2_HUMAN	Y	514	ENSP00000355511:S514Y	ENSP00000355511:S514Y	S	-	2	0	CHML	239864151	1.000000	0.71417	0.986000	0.45419	0.976000	0.68499	2.468000	0.45102	2.826000	0.97356	0.655000	0.94253	TCT		0.408	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821	
WDR64	128025	hgsc.bcm.edu	37	1	241834420	241834420	+	Silent	SNP	G	G	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr1:241834420G>A	ENST00000366552.2	+	3	528	c.321G>A	c.(319-321)caG>caA	p.Q107Q	WDR64_ENST00000461971.1_3'UTR|WDR64_ENST00000437684.2_Silent_p.Q107Q	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	107										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TTGCTTCCCAGTTGGATGAAG	0.328																																																	0			1											204.0	166.0	178.0					1																	241834420		692	1591	2283	239901043	SO:0001819	synonymous_variant	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.321G>A	1.37:g.241834420G>A			239901043	B1ANT0|Q7Z573|Q96LY9	Silent	SNP	ENST00000366552.2	37																																																																																					0.328	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	
OR2M4	26245	hgsc.bcm.edu	37	1	248403030	248403030	+	Missense_Mutation	SNP	C	C	T	rs144697226	byFrequency	TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr1:248403030C>T	ENST00000306687.1	+	1	800	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	267					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T267M(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTAAACATACGCCAGACCAG	0.517													t|||	11	0.00219649	0.0045	0.0014	5008	,	,		18038	0.0		0.0	False		,,,				2504	0.0041																2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	1						T	MET/THR	29,4377	823.6+/-416.5	0,29,2174	131.0	113.0	119.0		800	1.4	0.0	1	dbSNP_134	119	1,8599	819.2+/-406.8	0,1,4299	yes	missense	OR2M4	NM_017504.1	81	0,30,6473	TT,TC,CC		0.0116,0.6582,0.2307	probably-damaging	267/312	248403030	30,12976	2203	4300	6503	246469653	SO:0001583	missense	26245			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.800C>T	1.37:g.248403030C>T	ENSP00000306688:p.Thr267Met		246469653	Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	CCDS31108.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	t	7.287	0.610196	0.14066	0.006582	1.16E-4	ENSG00000171180	ENST00000306687	T	0.00130	8.69	3.34	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	2.248960	0.02593	N	0.100179	T	0.00210	0.0006	L	0.45228	1.405	0.09310	N	1	D	0.71674	0.998	D	0.65140	0.932	T	0.50742	-0.8792	10	0.72032	D	0.01	.	3.4528	0.07505	0.298:0.4908:0.0:0.2112	.	267	Q96R27	OR2M4_HUMAN	M	267	ENSP00000306688:T267M	ENSP00000306688:T267M	T	+	2	0	OR2M4	246469653	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.096000	0.11059	0.238000	0.21222	-1.215000	0.01618	ACG		0.517	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504	
OR10A5	144124	hgsc.bcm.edu	37	11	6867549	6867549	+	Silent	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr11:6867549C>T	ENST00000299454.4	+	1	667	c.636C>T	c.(634-636)tgC>tgT	p.C212C	OR10A5_ENST00000379831.2_Silent_p.C216C			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	212					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGATCCCCTGCTTGCTGATCT	0.522																																					Pancreas(44;21 1072 25662 28041 45559)												0			11											307.0	245.0	266.0					11																	6867549		2201	4296	6497	6824125	SO:0001819	synonymous_variant	144124			AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.636C>T	11.37:g.6867549C>T			6824125	O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	ENST00000299454.4	37	CCDS7773.1																																																																																				0.522	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168	
ANO5	203859	hgsc.bcm.edu	37	11	22294384	22294384	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr11:22294384T>C	ENST00000324559.8	+	19	2401	c.2084T>C	c.(2083-2085)cTt>cCt	p.L695P	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	695					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGGCTCCTCTTCTTGCTCTC	0.378																																																	0			11											143.0	126.0	132.0					11																	22294384		2203	4300	6503	22250960	SO:0001583	missense	203859			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2084T>C	11.37:g.22294384T>C	ENSP00000315371:p.Leu695Pro		22250960		Missense_Mutation	SNP	ENST00000324559.8	37	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	t	24.4	4.532381	0.85812	.	.	ENSG00000171714	ENST00000324559	T	0.69806	-0.43	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.87621	0.6223	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91549	0.5255	10	0.87932	D	0	.	16.0211	0.80493	0.0:0.0:0.0:1.0	.	695	Q75V66	ANO5_HUMAN	P	695	ENSP00000315371:L695P	ENSP00000315371:L695P	L	+	2	0	ANO5	22250960	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.988000	0.88194	2.240000	0.73641	0.529000	0.55759	CTT		0.378	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	
OR5B2	390190	hgsc.bcm.edu	37	11	58190047	58190047	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr11:58190047T>C	ENST00000302581.2	-	1	739	c.688A>G	c.(688-690)Aag>Gag	p.K230E		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGGTGTCCCTTAGCTGAATGC	0.408																																																	0			11											101.0	95.0	97.0					11																	58190047		2201	4295	6496	57946623	SO:0001583	missense	390190			AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.688A>G	11.37:g.58190047T>C	ENSP00000303076:p.Lys230Glu		57946623	B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-2.912680	0.00056	.	.	ENSG00000172365	ENST00000302581	T	0.00034	8.87	3.73	-7.46	0.01369	GPCR, rhodopsin-like superfamily (1);	1.194340	0.06592	U	0.752284	T	0.00039	0.0001	N	0.00405	-1.535	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.34428	-0.9829	10	0.02654	T	1	-0.0272	10.5667	0.45177	0.0:0.4635:0.357:0.1795	.	230	Q96R09	OR5B2_HUMAN	E	230	ENSP00000303076:K230E	ENSP00000303076:K230E	K	-	1	0	OR5B2	57946623	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.989000	0.01480	-1.700000	0.01414	-1.227000	0.01581	AAG		0.408	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566	
LGALS12	85329	hgsc.bcm.edu	37	11	63279284	63279284	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr11:63279284C>T	ENST00000394618.3	+	7	976	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	LGALS12_ENST00000425950.2_Missense_Mutation_p.R159W|LGALS12_ENST00000340246.5_Missense_Mutation_p.R230W|LGALS12_ENST00000255684.5_Missense_Mutation_p.R220W|LGALS12_ENST00000415491.2_Missense_Mutation_p.R168W	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	229	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CATCATAGTACGGGGACTGGT	0.532																																																	0			11											107.0	89.0	95.0					11																	63279284		2201	4298	6499	63035860	SO:0001583	missense	85329			AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.685C>T	11.37:g.63279284C>T	ENSP00000378116:p.Arg229Trp		63035860	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000394618.3	37	CCDS8045.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653394	0.47362	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	T;T;T;T;T	0.05996	3.36;3.36;3.36;3.36;3.36	4.89	3.97	0.46021	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (3);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.47852	D	0.000210	T	0.18882	0.0453	L	0.60455	1.87	0.40490	D	0.980538	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.938;0.998	T	0.00655	-1.1624	10	0.46703	T	0.11	-34.8376	10.979	0.47483	0.1867:0.8133:0.0:0.0	.	189;230;220;229	Q9NZ03;G5E970;Q96DT0-3;Q96DT0	.;.;.;LEG12_HUMAN	W	220;229;230;168;159	ENSP00000255684:R220W;ENSP00000378116:R229W;ENSP00000339374:R230W;ENSP00000394659:R168W;ENSP00000399093:R159W	ENSP00000255684:R220W	R	+	1	2	LGALS12	63035860	0.939000	0.31865	0.998000	0.56505	0.151000	0.21798	0.203000	0.17315	1.183000	0.42943	0.462000	0.41574	CGG		0.532	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101	
FAT3	120114	hgsc.bcm.edu	37	11	92495184	92495185	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G|C	G|C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr11:92495184_92495185GC>TT	ENST00000298047.6	+	4	3849_3850	c.3832_3833GC>TT	c.(3832-3834)GCt>TTt	p.A1278F	FAT3_ENST00000409404.2_Missense_Mutation_p.A1278F|FAT3_ENST00000525166.1_Missense_Mutation_p.A1128F|RP11-203F8.1_ENST00000529884.1_RNA			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1278	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATTTACAGGGCTTTTGCATTT	0.46										TCGA Ovarian(4;0.039)																																							0			11																																								92134832|92134833	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	Exception_encountered	11.37:g.92495184_92495185delinsTT	ENSP00000298047:p.Ala1278Phe		92134832|92134833	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37																																																																																					0.460	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
CNTN5	53942	hgsc.bcm.edu	37	11	99786793	99786793	+	Silent	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr11:99786793A>G	ENST00000524871.1	+	7	875	c.585A>G	c.(583-585)ggA>ggG	p.G195G	CNTN5_ENST00000418526.2_Silent_p.G121G|CNTN5_ENST00000279463.3_Silent_p.G195G|CNTN5_ENST00000527185.1_Silent_p.G195G|CNTN5_ENST00000528682.1_Silent_p.G195G	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	195					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAGATCTGGGAAATTTTAGTG	0.418																																																	0			11											114.0	112.0	113.0					11																	99786793		1918	4139	6057	99292003	SO:0001819	synonymous_variant	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.585A>G	11.37:g.99786793A>G			99292003	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	CCDS53696.1																																																																																				0.418	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	
DNAH8	1769	hgsc.bcm.edu	37	6	38840416	38840416	+	Silent	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr6:38840416C>T	ENST00000359357.3	+	48	6698	c.6444C>T	c.(6442-6444)tgC>tgT	p.C2148C	DNAH8_ENST00000441566.1_Silent_p.C2112C|DNAH8_ENST00000449981.2_Silent_p.C2365C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2148	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAACAGAATGCGGAAGGCCTC	0.483																																																	0			6											112.0	106.0	108.0					6																	38840416		2203	4300	6503	38948394	SO:0001819	synonymous_variant	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6444C>T	6.37:g.38840416C>T			38948394	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37																																																																																					0.483	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	hgsc.bcm.edu	37	6	38851758	38851758	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr6:38851758A>G	ENST00000359357.3	+	54	7846	c.7592A>G	c.(7591-7593)aAt>aGt	p.N2531S	DNAH8_ENST00000441566.1_Missense_Mutation_p.N2495S|DNAH8_ENST00000449981.2_Missense_Mutation_p.N2748S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2531	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N2531I(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTGTGATTAATGAGTGGGGA	0.318																																																	1	Substitution - Missense(1)	ovary(1)	6											99.0	102.0	101.0					6																	38851758		2203	4300	6503	38959736	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7592A>G	6.37:g.38851758A>G	ENSP00000352312:p.Asn2531Ser		38959736	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	A	22.5	4.302909	0.81136	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.16897	2.31;2.31;2.31	5.07	5.07	0.68467	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.41143	0.1146	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.51379	-0.8713	10	0.52906	T	0.07	.	15.1103	0.72351	1.0:0.0:0.0:0.0	.	2531	Q96JB1	DYH8_HUMAN	S	2736;2736;2531;2495	ENSP00000333363:N2736S;ENSP00000352312:N2531S;ENSP00000402294:N2495S	ENSP00000333363:N2736S	N	+	2	0	DNAH8	38959736	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.277000	0.95755	2.030000	0.59900	0.454000	0.30748	AAT		0.318	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DST	667	hgsc.bcm.edu	37	6	56357224	56357224	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr6:56357224G>A	ENST00000361203.3	-	80	19605	c.19598C>T	c.(19597-19599)gCc>gTc	p.A6533V	DST_ENST00000244364.6_Missense_Mutation_p.A4230V|DST_ENST00000446842.2_Missense_Mutation_p.A6318V|DST_ENST00000340834.4_5'Flank|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.A4447V|DST_ENST00000421834.2_Missense_Mutation_p.A4556V|DST_ENST00000370769.4_Missense_Mutation_p.A6644V|DST_ENST00000370754.5_Missense_Mutation_p.A6822V			Q03001	DYST_HUMAN	dystonin	6533					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACTTCATTGGCAAAAACCTT	0.313																																																	0			6											73.0	70.0	71.0					6																	56357224		1802	4064	5866	56465183	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19598C>T	6.37:g.56357224G>A	ENSP00000354508:p.Ala6533Val		56465183	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	G	16.84	3.232729	0.58777	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.11	5.11	0.69529	.	0.000000	0.48286	D	0.000195	T	0.19927	0.0479	N	0.02368	-0.58	0.33387	D	0.575589	B;P;P;B;B	0.40032	0.153;0.699;0.518;0.019;0.035	B;P;B;B;B	0.51806	0.095;0.68;0.349;0.015;0.034	T	0.16129	-1.0413	9	0.19147	T	0.46	.	12.2938	0.54833	0.0781:0.0:0.9219:0.0	.	4556;6644;6822;6642;4230	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	V	4230;6822;6644;4556;6318;4447;6533	ENSP00000244364:A4230V;ENSP00000359790:A6822V;ENSP00000359805:A6644V;ENSP00000400883:A4556V;ENSP00000393645:A6318V;ENSP00000359824:A4447V;ENSP00000354508:A6533V	ENSP00000244364:A4230V	A	-	2	0	DST	56465183	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.888000	0.69758	2.540000	0.85666	0.591000	0.81541	GCC		0.313	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
FYN	2534	hgsc.bcm.edu	37	6	112041168	112041168	+	Silent	SNP	G	G	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr6:112041168G>T	ENST00000354650.3	-	4	693	c.87C>A	c.(85-87)cgC>cgA	p.R29R	FYN_ENST00000229471.4_Silent_p.R29R|FYN_ENST00000538466.1_Silent_p.R29R|FYN_ENST00000368667.2_Silent_p.R29R|FYN_ENST00000229470.5_Silent_p.R29R|FYN_ENST00000356013.2_Silent_p.R29R|FYN_ENST00000368682.3_Silent_p.R29R|FYN_ENST00000368678.4_Silent_p.R29R	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	29					activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CTGTGCCATAGCGGTACCCAG	0.562																																																	0			6											145.0	106.0	119.0					6																	112041168		2203	4300	6503	112147861	SO:0001819	synonymous_variant	2534			AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.87C>A	6.37:g.112041168G>T			112147861	B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Silent	SNP	ENST00000354650.3	37	CCDS5094.1																																																																																				0.562	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1		
LPA	4018	hgsc.bcm.edu	37	6	160977188	160977188	+	Silent	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr6:160977188C>T	ENST00000316300.5	-	30	4886	c.4842G>A	c.(4840-4842)cgG>cgA	p.R1614R	LPA_ENST00000447678.1_Silent_p.R1614R			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4122	Kringle 15. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGTAGCACTGCCGGACCACAG	0.468																																																	0			6											111.0	115.0	114.0					6																	160977188		2168	4297	6465	160897178	SO:0001819	synonymous_variant	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4842G>A	6.37:g.160977188C>T			160897178	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																				0.468	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
DLL1	28514	hgsc.bcm.edu	37	6	170592670	170592670	+	Missense_Mutation	SNP	A	A	G	rs531005727	byFrequency	TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr6:170592670A>G	ENST00000366756.3	-	9	2030	c.1697T>C	c.(1696-1698)gTg>gCg	p.V566A		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	566					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GACGCAGACCACCACAGCGGC	0.687																																																	0			6											37.0	37.0	37.0					6																	170592670		2202	4298	6500	170434595	SO:0001583	missense	28514			AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1697T>C	6.37:g.170592670A>G	ENSP00000355718:p.Val566Ala		170434595	B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	ENST00000366756.3	37	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	A	6.686	0.495192	0.12762	.	.	ENSG00000198719	ENST00000366756	D	0.86562	-2.14	5.11	-0.421	0.12332	.	0.174666	0.49916	D	0.000130	T	0.81250	0.4783	M	0.80847	2.515	0.41963	D	0.990717	B	0.30021	0.265	B	0.32211	0.142	T	0.76629	-0.2889	10	0.54805	T	0.06	.	14.7823	0.69776	0.4533:0.5467:0.0:0.0	.	566	O00548	DLL1_HUMAN	A	566	ENSP00000355718:V566A	ENSP00000355718:V566A	V	-	2	0	DLL1	170434595	0.995000	0.38212	0.017000	0.16124	0.035000	0.12851	4.217000	0.58547	-0.229000	0.09854	-0.331000	0.08364	GTG		0.687	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1		
TP53	7157	hgsc.bcm.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	T	rs17849781		TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr17:7577106G>T	ENST00000269305.4	-	8	1021	c.832C>A	c.(832-834)Cct>Act	p.P278T	TP53_ENST00000359597.4_Missense_Mutation_p.P278T|TP53_ENST00000445888.2_Missense_Mutation_p.P278T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.P278T|TP53_ENST00000420246.2_Missense_Mutation_p.P278T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTCTCCCAGGACAGGCACAA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	131	Substitution - Missense(105)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)	upper_aerodigestive_tract(19)|breast(18)|skin(16)|large_intestine(14)|oesophagus(11)|lung(11)|central_nervous_system(7)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(4)|bone(4)|kidney(3)|endometrium(3)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|eye(1)|biliary_tract(1)|liver(1)|prostate(1)	17	GRCh37	CM011015|CM052927	TP53	M	rs17849781						72.0	62.0	65.0					17																	7577106		2203	4300	6503	7517831	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.832C>A	17.37:g.7577106G>T	ENSP00000269305:p.Pro278Thr		7517831	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953650	0.92660	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99884	-7.49;-7.49;-7.49;-7.49;-7.49;-7.49	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99894	0.9949	M	0.88570	2.965	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.998;1.0;0.998;0.997	D	0.96194	0.9140	10	0.87932	D	0	-13.7877	16.1198	0.81342	0.0:0.0:1.0:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	T	278;278;278;278;278;267;146	ENSP00000352610:P278T;ENSP00000269305:P278T;ENSP00000398846:P278T;ENSP00000391127:P278T;ENSP00000391478:P278T;ENSP00000425104:P146T	ENSP00000269305:P278T	P	-	1	0	TP53	7517831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.573000	0.98181	2.667000	0.90743	0.462000	0.41574	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	hgsc.bcm.edu	37	17	7577123	7577123	+	Missense_Mutation	SNP	A	A	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr17:7577123A>C	ENST00000269305.4	-	8	1004	c.815T>G	c.(814-816)gTg>gGg	p.V272G	TP53_ENST00000359597.4_Missense_Mutation_p.V272G|TP53_ENST00000445888.2_Missense_Mutation_p.V272G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.V272G|TP53_ENST00000420246.2_Missense_Mutation_p.V272G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.V272E(8)|p.V272A(7)|p.V272G(6)|p.?(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271fs*73(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACAAACACGCACCTCAAAGCT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	39	Substitution - Missense(21)|Whole gene deletion(8)|Deletion - In frame(4)|Deletion - Frameshift(4)|Unknown(2)	haematopoietic_and_lymphoid_tissue(6)|upper_aerodigestive_tract(5)|lung(4)|bone(4)|stomach(3)|central_nervous_system(3)|breast(3)|skin(3)|endometrium(2)|large_intestine(1)|soft_tissue(1)|liver(1)|urinary_tract(1)|ovary(1)|pancreas(1)	17	GRCh37	CM942122	TP53	M							63.0	55.0	57.0					17																	7577123		2203	4300	6503	7517848	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.815T>G	17.37:g.7577123A>C	ENSP00000269305:p.Val272Gly		7517848	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.708162	0.48412	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99824	-6.96;-6.96;-6.96;-6.96;-6.96;-6.96	5.13	2.87	0.33458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057604	0.64402	N	0.000002	D	0.99648	0.9870	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99087	1.0839	10	0.33141	T	0.24	-27.8222	6.511	0.22222	0.7602:0.1564:0.0833:0.0	.	272;272;272;272	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	272;272;272;272;272;261;140	ENSP00000352610:V272G;ENSP00000269305:V272G;ENSP00000398846:V272G;ENSP00000391127:V272G;ENSP00000391478:V272G;ENSP00000425104:V140G	ENSP00000269305:V272G	V	-	2	0	TP53	7517848	0.032000	0.19561	0.353000	0.25747	0.798000	0.45092	0.523000	0.22925	0.396000	0.25283	0.379000	0.24179	GTG		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	hgsc.bcm.edu	37	17	7577507	7577507	+	Silent	SNP	T	T	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr17:7577507T>C	ENST00000269305.4	-	7	963	c.774A>G	c.(772-774)gaA>gaG	p.E258E	TP53_ENST00000359597.4_Silent_p.E258E|TP53_ENST00000445888.2_Silent_p.E258E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Silent_p.E258E|TP53_ENST00000455263.2_Silent_p.E258E|TP53_ENST00000420246.2_Silent_p.E258E	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	258	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1978757}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E258D(9)|p.0?(8)|p.D259fs*5(1)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.D259fs*86(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACCTGGAGTCTTCCAGTGTGA	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	25	Substitution - Missense(9)|Whole gene deletion(8)|Deletion - Frameshift(4)|Deletion - In frame(2)|Insertion - Frameshift(1)|Unknown(1)	large_intestine(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(2)|oesophagus(2)|lung(2)|ovary(2)|stomach(1)|breast(1)	17											136.0	96.0	110.0					17																	7577507		2203	4300	6503	7518232	SO:0001819	synonymous_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.774A>G	17.37:g.7577507T>C			7518232	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	ENST00000269305.4	37	CCDS11118.1																																																																																				0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYH8	4626	hgsc.bcm.edu	37	17	10302911	10302911	+	Silent	SNP	G	G	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr17:10302911G>T	ENST00000403437.2	-	28	3905	c.3811C>A	c.(3811-3813)Cgg>Agg	p.R1271R	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1271					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGATCAGCCGCTGCTGCTCC	0.483									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0			17											142.0	130.0	134.0					17																	10302911		2203	4300	6503	10243636	SO:0001819	synonymous_variant	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3811C>A	17.37:g.10302911G>T			10243636	Q14910	Silent	SNP	ENST00000403437.2	37	CCDS11153.1																																																																																				0.483	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MAP2K4	6416	hgsc.bcm.edu	37	17	12032493	12032493	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr17:12032493G>T	ENST00000353533.5	+	9	992	c.929G>T	c.(928-930)tGg>tTg	p.W310L	MAP2K4_ENST00000415385.3_Missense_Mutation_p.W321L	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	310	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.W310*(1)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TATCCAAAGTGGAATAGTGTA	0.428			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																			Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	12	Whole gene deletion(10)|Substitution - Nonsense(1)|Unknown(1)	breast(4)|ovary(4)|biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	17											76.0	70.0	72.0					17																	12032493		2203	4300	6503	11973218	SO:0001583	missense	6416			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.929G>T	17.37:g.12032493G>T	ENSP00000262445:p.Trp310Leu		11973218	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045499	0.93685	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.63913	-0.07;-0.07	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65176	0.2666	N	0.12831	0.26	0.80722	D	1	D;P;P	0.76494	0.999;0.923;0.862	D;P;P	0.70716	0.97;0.703;0.749	T	0.71856	-0.4466	10	0.87932	D	0	.	17.8069	0.88604	0.0:0.0:1.0:0.0	.	182;321;310	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	L	310;321;287;182	ENSP00000262445:W310L;ENSP00000410402:W321L	ENSP00000262445:W310L	W	+	2	0	MAP2K4	11973218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.586000	0.98226	2.805000	0.96524	0.655000	0.94253	TGG		0.428	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1		
NF1	4763	hgsc.bcm.edu	37	17	29556399	29556399	+	Silent	SNP	T	T	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr17:29556399T>C	ENST00000358273.4	+	21	3149	c.2766T>C	c.(2764-2766)ggT>ggC	p.G922G	NF1_ENST00000356175.3_Silent_p.G922G	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	922					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCTGGTGGGTCTAGAATTGA	0.408			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17											113.0	113.0	113.0					17																	29556399		2203	4300	6503	26580525	SO:0001819	synonymous_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2766T>C	17.37:g.29556399T>C			26580525	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	CCDS42292.1																																																																																				0.408	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
IKZF3	22806	hgsc.bcm.edu	37	17	37922534	37922534	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr17:37922534T>C	ENST00000346872.3	-	8	1100	c.1039A>G	c.(1039-1041)Acc>Gcc	p.T347A	RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000350532.3_Missense_Mutation_p.T308A|IKZF3_ENST00000377958.2_Missense_Mutation_p.T260A|IKZF3_ENST00000377945.3_Missense_Mutation_p.T213A|IKZF3_ENST00000377944.3_Missense_Mutation_p.T204A|IKZF3_ENST00000439167.2_Missense_Mutation_p.T274A|IKZF3_ENST00000351680.3_Missense_Mutation_p.T308A|IKZF3_ENST00000346243.3_Missense_Mutation_p.T269A|IKZF3_ENST00000439016.2_Missense_Mutation_p.T252A|IKZF3_ENST00000467757.1_Missense_Mutation_p.T291A|IKZF3_ENST00000377952.2_Missense_Mutation_p.T126A|IKZF3_ENST00000394189.2_Missense_Mutation_p.T165A|IKZF3_ENST00000583368.1_Missense_Mutation_p.T100A|IKZF3_ENST00000535189.1_Missense_Mutation_p.T313A	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	347					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCAGCCCGGGTGAGGGCTATG	0.582																																																	0			17											97.0	89.0	92.0					17																	37922534		2203	4300	6503	35176060	SO:0001583	missense	22806			AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.1039A>G	17.37:g.37922534T>C	ENSP00000344544:p.Thr347Ala		35176060	B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.626044	0.28978	.	.	ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	T;T;T;T;T;T;T;T;T;T	0.08546	3.51;3.56;3.29;3.08;3.76;3.35;3.42;3.43;3.31;4.37	5.91	4.84	0.62591	.	0.000000	0.64402	D	0.000009	T	0.12178	0.0296	L	0.43152	1.355	0.31627	N	0.649505	P;B;B;B;D;B;P;B;B;B;P;P;B	0.63880	0.888;0.001;0.004;0.001;0.993;0.041;0.812;0.002;0.036;0.094;0.888;0.888;0.011	P;B;B;B;P;B;P;B;B;B;P;P;B	0.53518	0.539;0.003;0.004;0.003;0.728;0.036;0.539;0.004;0.036;0.171;0.539;0.539;0.024	T	0.07520	-1.0768	10	0.18276	T	0.48	-10.9571	8.8102	0.34963	0.0:0.0687:0.136:0.7953	.	260;126;165;213;204;313;269;252;308;291;308;274;347	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	A	347;252;213;165;204;260;126;313;308;269;308;291	ENSP00000367180:T213A;ENSP00000377741:T165A;ENSP00000367179:T204A;ENSP00000367194:T260A;ENSP00000367188:T126A;ENSP00000438972:T313A;ENSP00000345622:T308A;ENSP00000341977:T269A;ENSP00000344471:T308A;ENSP00000420463:T291A	ENSP00000341977:T269A	T	-	1	0	IKZF3	35176060	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.737000	0.38197	1.057000	0.40506	0.533000	0.62120	ACC		0.582	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481	
KLHL10	317719	hgsc.bcm.edu	37	17	39998265	39998265	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr17:39998265T>C	ENST00000293303.4	+	2	538	c.385T>C	c.(385-387)Tgc>Cgc	p.C129R	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	129					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				CAGGGGTTGCTGCGAGTTCCT	0.507																																																	0			17											122.0	114.0	116.0					17																	39998265		1994	4174	6168	37251791	SO:0001583	missense	317719			AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.385T>C	17.37:g.39998265T>C	ENSP00000293303:p.Cys129Arg		37251791	Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.789451	0.70337	.	.	ENSG00000161594	ENST00000293303;ENST00000438813	T;T	0.66099	-0.19;-0.19	5.73	5.73	0.89815	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.135639	0.64402	D	0.000001	T	0.73233	0.3561	M	0.67700	2.07	0.80722	D	1	P;D	0.54772	0.942;0.968	P;P	0.61940	0.811;0.896	T	0.74041	-0.3792	9	.	.	.	.	10.9335	0.47233	0.0:0.0:0.1568:0.8432	.	123;129	B4DXV2;Q6JEL2	.;KLH10_HUMAN	R	129;123	ENSP00000293303:C129R;ENSP00000416221:C123R	.	C	+	1	0	KLHL10	37251791	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.840000	0.62817	2.177000	0.69029	0.533000	0.62120	TGC		0.507	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467	
DNAH17	8632	hgsc.bcm.edu	37	17	76486905	76486905	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr17:76486905G>A	ENST00000585328.1	-	44	6803	c.6679C>T	c.(6679-6681)Cgg>Tgg	p.R2227W	DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000389840.5_Missense_Mutation_p.R2218W|RP11-559N14.5_ENST00000588565.1_RNA|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2218	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGGGGGATCCGCTCGTTGCTG	0.632																																																	0			17											22.0	28.0	26.0					17																	76486905		2022	4163	6185	73998500	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6679C>T	17.37:g.76486905G>A	ENSP00000465516:p.Arg2227Trp		73998500	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	G	15.29	2.790818	0.50102	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	D	0.89343	-2.5	4.45	4.45	0.53987	.	.	.	.	.	D	0.96790	0.8952	H	0.99600	4.65	0.42210	D	0.991804	.	.	.	.	.	.	D	0.97415	1.0005	7	0.87932	D	0	.	11.4839	0.50342	0.0:0.0:0.6855:0.3145	.	.	.	.	W	2227;2218	ENSP00000374490:R2218W	ENSP00000300671:R2227W	R	-	1	2	DNAH17	73998500	1.000000	0.71417	0.981000	0.43875	0.246000	0.25737	4.347000	0.59373	2.187000	0.69744	0.561000	0.74099	CGG		0.632	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
RBM11	54033	hgsc.bcm.edu	37	21	15599508	15599508	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr21:15599508G>A	ENST00000400577.3	+	5	749	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	247					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)	p.R247Q(1)		endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		ATGAATAAACGAAAGAGACAA	0.408																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	21											211.0	203.0	206.0					21																	15599508		1947	4150	6097	14521379	SO:0001583	missense	54033			AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.740G>A	21.37:g.15599508G>A	ENSP00000383421:p.Arg247Gln		14521379	Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041604	0.75732	.	.	ENSG00000185272	ENST00000400577	T	0.10477	2.87	4.99	4.07	0.47477	.	.	.	.	.	T	0.13329	0.0323	M	0.66939	2.045	0.27241	N	0.959134	B	0.24533	0.105	B	0.16722	0.016	T	0.09037	-1.0693	9	0.49607	T	0.09	-10.1345	8.7994	0.34898	0.1862:0.0:0.8138:0.0	.	247	P57052	RBM11_HUMAN	Q	247	ENSP00000383421:R247Q	ENSP00000383421:R247Q	R	+	2	0	RBM11	14521379	1.000000	0.71417	0.967000	0.41034	0.776000	0.43924	1.464000	0.35288	1.352000	0.45808	0.650000	0.86243	CGA		0.408	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770	
CREBBP	1387	hgsc.bcm.edu	37	16	3786763	3786763	+	Missense_Mutation	SNP	A	A	G	rs201719835		TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr16:3786763A>G	ENST00000262367.5	-	27	5257	c.4448T>C	c.(4447-4449)aTc>aCc	p.I1483T	CREBBP_ENST00000382070.3_Missense_Mutation_p.I1445T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1483	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I1483S(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCAATGGAAGATGTAATCATC	0.512			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	16											227.0	193.0	204.0					16																	3786763		2197	4300	6497	3726764	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4448T>C	16.37:g.3786763A>G	ENSP00000262367:p.Ile1483Thr		3726764	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	a	18.70	3.680249	0.68042	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.94862	-3.54;-3.54	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.98036	0.9353	H	0.95645	3.7	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.97110	1.0;1.0	D	0.99293	1.0899	10	0.87932	D	0	-22.4571	14.6308	0.68655	1.0:0.0:0.0:0.0	.	1513;1483	Q4LE28;Q92793	.;CBP_HUMAN	T	1483;1513;1445;72	ENSP00000262367:I1483T;ENSP00000371502:I1445T	ENSP00000262367:I1483T	I	-	2	0	CREBBP	3726764	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.287000	0.95975	2.107000	0.64212	0.459000	0.35465	ATC		0.512	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
ACSM1	116285	hgsc.bcm.edu	37	16	20702394	20702394	+	Silent	SNP	T	T	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr16:20702394T>C	ENST00000307493.4	-	1	184	c.117A>G	c.(115-117)agA>agG	p.R39R	ACSM1_ENST00000520010.1_Silent_p.R39R|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	39					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						AGTCATTCCATCTTGGGGCTC	0.507																																																	0			16											132.0	138.0	136.0					16																	20702394		2201	4300	6501	20609895	SO:0001819	synonymous_variant	116285			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.117A>G	16.37:g.20702394T>C			20609895	Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	CCDS10587.1																																																																																				0.507	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956	
NAE1	8883	hgsc.bcm.edu	37	16	66842916	66842916	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr16:66842916C>T	ENST00000290810.3	-	16	1310	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	NAE1_ENST00000394074.2_Missense_Mutation_p.D316N|NAE1_ENST00000379463.2_Missense_Mutation_p.D399N|NAE1_ENST00000359087.4_Missense_Mutation_p.D408N			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	405					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TTAATTGTATCCAAACCATAT	0.313																																																	0			16											89.0	84.0	86.0					16																	66842916		2200	4300	6500	65400417	SO:0001583	missense	8883			U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1213G>A	16.37:g.66842916C>T	ENSP00000290810:p.Asp405Asn		65400417	A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	37	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992147	0.35131	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.14	-0.305	0.12784	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.217835	0.45361	N	0.000361	T	0.19644	0.0472	N	0.16478	0.41	0.52501	D	0.999956	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.08411	-1.0723	10	0.17832	T	0.49	-12.7033	5.634	0.17526	0.0:0.4388:0.2376:0.3236	.	408;405;399	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	N	408;405;399;316	ENSP00000351990:D408N;ENSP00000290810:D405N;ENSP00000368776:D399N;ENSP00000377637:D316N	ENSP00000290810:D405N	D	-	1	0	NAE1	65400417	0.997000	0.39634	0.964000	0.40570	0.889000	0.51656	0.823000	0.27366	-0.288000	0.09051	-0.145000	0.13849	GAT		0.313	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905	
TXNL4B	54957	hgsc.bcm.edu	37	16	72120643	72120643	+	Silent	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr16:72120643A>G	ENST00000268483.3	-	4	664	c.343T>C	c.(343-345)Ttg>Ctg	p.L115L	TXNL4B_ENST00000426362.2_Silent_p.L115L|TXNL4B_ENST00000423037.1_Silent_p.L115L|RP11-384M15.3_ENST00000561827.1_RNA	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	115					mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						ACTTCAATCAAATCTATGAAG	0.383																																																	0			16											104.0	98.0	100.0					16																	72120643		2198	4300	6498	70678144	SO:0001819	synonymous_variant	54957			BC009646	CCDS10906.1	16q22.2	2012-11-19			ENSG00000140830	ENSG00000140830			26041	protein-coding gene	gene with protein product						15161931	Standard	NM_017853		Approved	FLJ20511, DLP, Dim2	uc010vmn.2	Q9NX01	OTTHUMG00000173453	ENST00000268483.3:c.343T>C	16.37:g.72120643A>G			70678144	D3DWS6	Silent	SNP	ENST00000268483.3	37	CCDS10906.1																																																																																				0.383	TXNL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269007.2	NM_017853	
SMAD4	4089	hgsc.bcm.edu	37	18	48591838	48591838	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr18:48591838A>G	ENST00000342988.3	+	9	1539	c.1001A>G	c.(1000-1002)cAg>cGg	p.Q334R	SMAD4_ENST00000588745.1_Missense_Mutation_p.Q238R|SMAD4_ENST00000398417.2_Missense_Mutation_p.Q334R	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	334	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ATGGATGTTCAGGTAGGAGAG	0.423																																																	38	Whole gene deletion(36)|Unknown(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	18											266.0	230.0	242.0					18																	48591838		2203	4300	6503	46845836	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1001A>G	18.37:g.48591838A>G	ENSP00000341551:p.Gln334Arg		46845836	A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134922	0.56828	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.95588	-3.75;-3.75	5.99	5.99	0.97316	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.90693	0.7080	N	0.25094	0.71	0.80722	D	1	B	0.18013	0.025	B	0.20955	0.032	D	0.87120	0.2190	10	0.13108	T	0.6	.	15.4768	0.75489	1.0:0.0:0.0:0.0	.	334	Q13485	SMAD4_HUMAN	R	334	ENSP00000341551:Q334R;ENSP00000381452:Q334R	ENSP00000341551:Q334R	Q	+	2	0	SMAD4	46845836	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.159000	0.94728	2.291000	0.77112	0.533000	0.62120	CAG		0.423	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
ATP8B1	5205	hgsc.bcm.edu	37	18	55338741	55338741	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr18:55338741G>A	ENST00000283684.4	-	16	1890	c.1891C>T	c.(1891-1893)Cga>Tga	p.R631*	RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Nonsense_Mutation_p.R631*|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	631					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GGATTCATTCGATGTAACCGT	0.383																																																	0			18											172.0	148.0	156.0					18																	55338741		2203	4300	6503	53489739	SO:0001587	stop_gained	5205			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1891C>T	18.37:g.55338741G>A	ENSP00000283684:p.Arg631*		53489739	Q9BTP8	Nonsense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	38	7.067276	0.98040	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	.	.	.	5.87	5.87	0.94306	.	0.448811	0.25397	N	0.030970	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	19.8132	0.96556	0.0:0.0:1.0:0.0	.	.	.	.	X	631	.	ENSP00000283684:R631X	R	-	1	2	ATP8B1	53489739	1.000000	0.71417	0.938000	0.37757	0.805000	0.45488	4.468000	0.60162	2.785000	0.95823	0.655000	0.94253	CGA		0.383	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603	
VHL	7428	hgsc.bcm.edu	37	3	10188212	10188212	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr3:10188212T>C	ENST00000256474.2	+	2	1195	c.355T>C	c.(355-357)Ttc>Ctc	p.F119L	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	119	Involved in binding to CCT complex.		F -> L (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:12000816}.|F -> S (in VHLD; type II). {ECO:0000269|PubMed:8825918}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L118_G123>P(1)|p.W117fs*1(1)|p.?(1)|p.F119fs*11(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCTTTGGCTCTTCAGAGATGC	0.507		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	4	Deletion - Frameshift(2)|Unknown(1)|Complex - deletion inframe(1)	kidney(4)	3	GRCh37	CM056725	VHL	M							178.0	166.0	170.0					3																	10188212		2203	4300	6503	10163212	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.355T>C	3.37:g.10188212T>C	ENSP00000256474:p.Phe119Leu		10163212	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.936672	0.73442	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99677	-6.37	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99474	0.9813	L	0.56340	1.77	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.98220	1.0477	10	0.66056	D	0.02	-6.0328	13.0887	0.59156	0.0:0.0:0.0:1.0	.	119	P40337	VHL_HUMAN	L	119;37	ENSP00000256474:F119L	ENSP00000256474:F119L	F	+	1	0	VHL	10163212	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	5.965000	0.70387	2.047000	0.60756	0.460000	0.39030	TTC		0.507	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
ZNF197	10168	hgsc.bcm.edu	37	3	44670728	44670728	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr3:44670728A>G	ENST00000396058.1	+	1	249	c.82A>G	c.(82-84)Acc>Gcc	p.T28A	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Missense_Mutation_p.T28A|ZNF197_ENST00000344387.4_Missense_Mutation_p.T28A|ZNF197_ENST00000383744.4_Missense_Mutation_p.T28A			O14709	ZN197_HUMAN	zinc finger protein 197	28					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GAAATGGGGAACCAGCTTCCA	0.478																																																	0			3											113.0	125.0	121.0					3																	44670728		2203	4300	6503	44645732	SO:0001583	missense	10168			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.82A>G	3.37:g.44670728A>G	ENSP00000379370:p.Thr28Ala		44645732	B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.516394	0.44763	.	.	ENSG00000186448	ENST00000412641;ENST00000383744;ENST00000536299;ENST00000344387;ENST00000383745;ENST00000396058	T;T;T;T;T	0.09445	2.98;5.72;3.39;5.72;3.39	4.88	0.841	0.18918	.	0.201697	0.24745	N	0.035950	T	0.03959	0.0111	N	0.08118	0	0.21878	N	0.999493	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.42120	-0.9470	10	0.17832	T	0.49	.	4.4814	0.11769	0.6127:0.0:0.0879:0.2994	.	28;28	Q86VG0;O14709	.;ZN197_HUMAN	A	28	ENSP00000394713:T28A;ENSP00000373250:T28A;ENSP00000345809:T28A;ENSP00000373251:T28A;ENSP00000379370:T28A	ENSP00000334616:T28A	T	+	1	0	ZNF197	44645732	0.794000	0.28838	0.994000	0.49952	0.993000	0.82548	0.459000	0.21908	0.410000	0.25675	0.533000	0.62120	ACC		0.478	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991	
PLXND1	23129	hgsc.bcm.edu	37	3	129304808	129304808	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr3:129304808C>T	ENST00000324093.4	-	5	2016	c.1838G>A	c.(1837-1839)cGc>cAc	p.R613H	PLXND1_ENST00000393239.1_Missense_Mutation_p.R613H	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	613					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GTACTCCTGGCGCACATCGAT	0.657																																					Ovarian(97;366 1484 3738 22084 39045)												0			3											110.0	117.0	114.0					3																	129304808		2203	4300	6503	130787498	SO:0001583	missense	23129			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.1838G>A	3.37:g.129304808C>T	ENSP00000317128:p.Arg613His		130787498	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	8.257	0.810323	0.16537	.	.	ENSG00000004399	ENST00000324093;ENST00000393239;ENST00000505237	T;T;T	0.37235	1.26;1.21;2.97	4.98	-8.03	0.01114	.	1.397370	0.03961	N	0.290045	T	0.18676	0.0448	N	0.03154	-0.405	0.20489	N	0.999897	B	0.02656	0.0	B	0.01281	0.0	T	0.19128	-1.0315	10	0.33940	T	0.23	.	17.6896	0.88266	0.0:0.1177:0.0:0.8823	.	613	Q9Y4D7	PLXD1_HUMAN	H	613;613;165	ENSP00000317128:R613H;ENSP00000376931:R613H;ENSP00000426241:R165H	ENSP00000317128:R613H	R	-	2	0	PLXND1	130787498	0.001000	0.12720	0.314000	0.25224	0.027000	0.11550	-3.019000	0.00643	-1.764000	0.01305	-1.036000	0.02392	CGC		0.657	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	
COL6A5	256076	hgsc.bcm.edu	37	3	130110086	130110086	+	Missense_Mutation	SNP	A	A	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr3:130110086A>C	ENST00000432398.2	+	7	2975	c.2481A>C	c.(2479-2481)aaA>aaC	p.K827N	COL6A5_ENST00000265379.6_Missense_Mutation_p.K827N	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	827	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GCATAAAAAAACAATATCAAG	0.388																																																	0			3											98.0	78.0	84.0					3																	130110086		692	1591	2283	131592776	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2481A>C	3.37:g.130110086A>C	ENSP00000390895:p.Lys827Asn		131592776	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	A	9.524	1.108990	0.20714	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.83591	-1.74;-1.74	5.72	-9.22	0.00675	.	.	.	.	.	T	0.57636	0.2067	N	0.12637	0.245	0.09310	N	1	B	0.19200	0.034	B	0.25614	0.062	T	0.48163	-0.9059	9	0.17369	T	0.5	.	2.0105	0.03486	0.282:0.2621:0.3118:0.1441	.	827	A8TX70-2	.	N	827	ENSP00000390895:K827N;ENSP00000265379:K827N	ENSP00000265379:K827N	K	+	3	2	COL6A5	131592776	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.767000	0.01795	-1.071000	0.03145	-1.117000	0.02048	AAA		0.388	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
PIK3CA	5290	hgsc.bcm.edu	37	3	178922365	178922365	+	Silent	SNP	T	T	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr3:178922365T>C	ENST00000263967.3	+	6	1291	c.1134T>C	c.(1132-1134)tgT>tgC	p.C378C		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	378	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		C -> Y (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAGTACCTTGTTCCAATCCCA	0.333		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0			3											188.0	149.0	161.0					3																	178922365		1836	4093	5929	180405059	SO:0001819	synonymous_variant	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1134T>C	3.37:g.178922365T>C			180405059	Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	CCDS43171.1																																																																																				0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
MAGOHB	55110	hgsc.bcm.edu	37	12	10758964	10758964	+	Silent	SNP	T	T	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr12:10758964T>C	ENST00000320756.2	-	5	447	c.357A>G	c.(355-357)gaA>gaG	p.E119E	MAGOHB_ENST00000539554.1_Silent_p.E73E|MAGOHB_ENST00000381881.2_Silent_p.E82E	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	119			E -> K (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|large_intestine(2)	4						CTCGAAGGCCTTCAGGATCCC	0.274																																																	0			12											27.0	27.0	27.0					12																	10758964		2192	4275	6467	10650231	SO:0001819	synonymous_variant	55110				CCDS8628.1	12p13.2	2014-02-12	2008-01-24		ENSG00000111196	ENSG00000111196			25504	protein-coding gene	gene with protein product							Standard	NM_018048		Approved	FLJ10292, MGN2	uc001qyq.2	Q96A72	OTTHUMG00000168407	ENST00000320756.2:c.357A>G	12.37:g.10758964T>C			10650231		Silent	SNP	ENST00000320756.2	37	CCDS8628.1																																																																																				0.274	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399616.1	NM_018048	
SOX5	6660	hgsc.bcm.edu	37	12	23999034	23999034	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr12:23999034C>T	ENST00000451604.2	-	3	465	c.364G>A	c.(364-366)Gag>Aag	p.E122K	SOX5_ENST00000541847.1_Missense_Mutation_p.E112K|SOX5_ENST00000441133.2_Missense_Mutation_p.E87K|SOX5_ENST00000545921.1_Missense_Mutation_p.E112K|SOX5_ENST00000546136.1_Missense_Mutation_p.E109K|SOX5_ENST00000537393.1_Missense_Mutation_p.E87K|SOX5_ENST00000309359.1_Missense_Mutation_p.E109K|SOX5_ENST00000541536.1_Missense_Mutation_p.E109K|SOX5_ENST00000381381.2_Missense_Mutation_p.E109K			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	122					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GACAAGGACTCGCCACTCTGT	0.493																																																	0			12											135.0	121.0	126.0					12																	23999034		2203	4300	6503	23890301	SO:0001583	missense	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.364G>A	12.37:g.23999034C>T	ENSP00000398273:p.Glu122Lys		23890301	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221560	0.79464	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.97731	-4.5;-4.5;-4.51;-4.5;-4.27;-4.51;-4.5	5.79	5.79	0.91817	.	0.237331	0.43919	D	0.000508	D	0.96374	0.8817	L	0.48642	1.525	0.48511	D	0.999667	D;P;P;P	0.54047	0.964;0.898;0.953;0.915	B;B;B;B	0.42738	0.364;0.396;0.182;0.283	D	0.96334	0.9246	10	0.54805	T	0.06	.	20.0349	0.97554	0.0:1.0:0.0:0.0	.	87;87;109;122	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	K	109;109;109;122;74;87;109;112;112;87;109	ENSP00000437487:E109K;ENSP00000308927:E109K;ENSP00000370788:E109K;ENSP00000398273:E122K;ENSP00000439832:E87K;ENSP00000441973:E109K;ENSP00000443520:E112K	ENSP00000308927:E109K	E	-	1	0	SOX5	23890301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.737000	0.55060	2.744000	0.94065	0.650000	0.86243	GAG		0.493	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940	
KRAS	3845	hgsc.bcm.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr12:25398284C>G	ENST00000256078.4	-	2	98	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000311936.3_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	12											91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>C	12.37:g.25398284C>G	ENSP00000256078:p.Gly12Ala		25289551	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996285	0.93167	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.74546	2.27	0.80722	D	1	P;P	0.52842	0.898;0.956	P;P	0.55303	0.658;0.773	D	0.87064	0.2155	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	A	12	ENSP00000308495:G12A;ENSP00000452512:G12A;ENSP00000256078:G12A;ENSP00000451856:G12A	ENSP00000256078:G12A	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
DIP2B	57609	hgsc.bcm.edu	37	12	51117078	51117078	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr12:51117078C>T	ENST00000301180.5	+	27	3294	c.3260C>T	c.(3259-3261)aCg>aTg	p.T1087M		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1087						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTCACGGCCACGCTGCCCACT	0.502																																																	0			12											196.0	143.0	161.0					12																	51117078		2203	4300	6503	49403345	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3260C>T	12.37:g.51117078C>T	ENSP00000301180:p.Thr1087Met		49403345	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340367	0.81911	.	.	ENSG00000066084	ENST00000301180	T	0.46063	0.88	4.95	4.95	0.65309	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69262	-0.5191	10	0.56958	D	0.05	-13.2213	18.7686	0.91882	0.0:1.0:0.0:0.0	.	1087	Q9P265	DIP2B_HUMAN	M	1087	ENSP00000301180:T1087M	ENSP00000301180:T1087M	T	+	2	0	DIP2B	49403345	1.000000	0.71417	0.795000	0.32087	0.584000	0.36387	7.651000	0.83577	2.758000	0.94735	0.563000	0.77884	ACG		0.502	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	
METTL25	84190	hgsc.bcm.edu	37	12	82796894	82796894	+	Missense_Mutation	SNP	G	G	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr12:82796894G>C	ENST00000248306.3	+	5	1333	c.1264G>C	c.(1264-1266)Gaa>Caa	p.E422Q	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	422							methyltransferase activity (GO:0008168)										TGAAGAATTTGAAAACCAGCA	0.358																																																	0			12											82.0	78.0	80.0					12																	82796894		2203	4300	6503	81321025	SO:0001583	missense	84190			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1264G>C	12.37:g.82796894G>C	ENSP00000248306:p.Glu422Gln		81321025	Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998346	0.74818	.	.	ENSG00000127720	ENST00000248306;ENST00000550298	T	0.33216	1.42	5.49	5.49	0.81192	.	0.106321	0.64402	D	0.000006	T	0.39200	0.1069	L	0.51422	1.61	0.58432	D	0.999995	P	0.50710	0.938	P	0.49528	0.614	T	0.04153	-1.0973	10	0.19590	T	0.45	-19.95	19.3599	0.94432	0.0:0.0:1.0:0.0	.	422	Q8N6Q8	CL026_HUMAN	Q	422;57	ENSP00000248306:E422Q	ENSP00000248306:E422Q	E	+	1	0	C12orf26	81321025	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.027000	0.93706	2.569000	0.86673	0.591000	0.81541	GAA		0.358	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230	
NAA25	80018	hgsc.bcm.edu	37	12	112516503	112516503	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr12:112516503G>T	ENST00000261745.4	-	6	768	c.520C>A	c.(520-522)Ctg>Atg	p.L174M		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	174						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GCAAGGGGCAGAAACATTGTT	0.368																																																	0			12											168.0	152.0	158.0					12																	112516503		2203	4300	6503	111000886	SO:0001583	missense	0			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.520C>A	12.37:g.112516503G>T	ENSP00000261745:p.Leu174Met		111000886	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	CCDS9159.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.40|19.40	3.819749|3.819749	0.71028|0.71028	.|.	.|.	ENSG00000111300|ENSG00000111300	ENST00000261745|ENST00000547133	T|.	0.35973|.	1.28|.	6.05|6.05	4.02|4.02	0.46733|0.46733	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.67730|0.67730	0.2924|0.2924	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.69734|0.69734	-0.5065|-0.5065	10|5	0.39692|.	T|.	0.17|.	-7.5836|-7.5836	4.3651|4.3651	0.11220|0.11220	0.4245:0.0:0.5755:0.0|0.4245:0.0:0.5755:0.0	.|.	174;174|.	A8K8X0;Q14CX7|.	.;NAA25_HUMAN|.	M|Y	174|135	ENSP00000261745:L174M|.	ENSP00000261745:L174M|.	L|S	-|-	1|2	2|0	NAA25|NAA25	111000886|111000886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.161000|3.161000	0.50747|0.50747	1.577000|1.577000	0.49804|0.49804	0.650000|0.650000	0.86243|0.86243	CTG|TCT		0.368	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953	
UBC	7316	hgsc.bcm.edu	37	12	125397696	125397696	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr12:125397696G>T	ENST00000536769.1	-	1	2198	c.622C>A	c.(622-624)Ctg>Atg	p.L208M	UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Missense_Mutation_p.L132M|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Missense_Mutation_p.L208M			P0CG48	UBC_HUMAN	ubiquitin C	208	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.L208V(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TAGTCAGACAGGGTACGACCA	0.488																																																	1	Substitution - Missense(1)	ovary(1)	12											174.0	158.0	163.0					12																	125397696		2203	4296	6499	123963649	SO:0001583	missense	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.622C>A	12.37:g.125397696G>T	ENSP00000441543:p.Leu208Met		123963649	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	-	14.99	2.699094	0.48307	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120;ENST00000541272	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	2.42	2.42	0.29668	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.41294	U	0.000918	D	0.86598	0.5971	M	0.70842	2.15	0.46823	D	0.999216	P;D;P	0.63046	0.855;0.992;0.855	P;D;P	0.68353	0.893;0.957;0.893	D	0.87623	0.2511	10	0.87932	D	0	.	11.1259	0.48317	0.0:0.0:1.0:0.0	.	297;208;208	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	M	208;208;132;208;132;132	ENSP00000441543:L208M;ENSP00000344818:L208M;ENSP00000438394:L132M;ENSP00000440205:L132M	ENSP00000344818:L208M	L	-	1	2	UBC	123963649	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.827000	0.62723	1.696000	0.51158	0.543000	0.68304	CTG		0.488	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009	
NEDD4	4734	hgsc.bcm.edu	37	15	56207629	56207629	+	Silent	SNP	G	G	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr15:56207629G>A	ENST00000508342.1	-	1	1700	c.1401C>T	c.(1399-1401)tcC>tcT	p.S467S	NEDD4_ENST00000338963.2_Silent_p.S467S|NEDD4_ENST00000506154.1_Silent_p.S467S|NEDD4_ENST00000435532.3_Intron	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	467					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TGGATAGACAGGAAATATTTG	0.358																																																	0			15											137.0	140.0	139.0					15																	56207629		2193	4291	6484	53994921	SO:0001819	synonymous_variant	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1401C>T	15.37:g.56207629G>A			53994921	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37		.	.	.	.	.	.	.	.	.	.	G	8.501	0.864313	0.17250	.	.	ENSG00000069869	ENST00000508871	.	.	.	5.46	4.44	0.53790	.	.	.	.	.	T	0.62134	0.2403	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59129	-0.7512	4	.	.	.	.	11.6164	0.51092	0.1178:0.0:0.8822:0.0	.	.	.	.	L	75	.	.	P	-	2	0	NEDD4	53994921	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.391000	0.34475	2.580000	0.87095	0.460000	0.39030	CCT		0.358	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400	
IGF1R	3480	hgsc.bcm.edu	37	15	99472877	99472877	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr15:99472877T>C	ENST00000268035.6	+	14	3484	c.2873T>C	c.(2872-2874)tTc>tCc	p.F958S	IGF1R_ENST00000558762.1_Missense_Mutation_p.F957S	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	958					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CTGTACGTCTTCCATAGAAAG	0.438																																																	0			15											188.0	163.0	172.0					15																	99472877		2197	4297	6494	97290400	SO:0001583	missense	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2873T>C	15.37:g.99472877T>C	ENSP00000268035:p.Phe958Ser		97290400	B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.819275	0.50633	.	.	ENSG00000140443	ENST00000268035	T	0.76316	-1.01	5.67	1.76	0.24704	.	0.211795	0.32578	N	0.005905	T	0.67674	0.2918	L	0.54323	1.7	0.34186	D	0.671474	B;B	0.30511	0.282;0.013	B;B	0.26614	0.048;0.071	T	0.68907	-0.5285	10	0.62326	D	0.03	.	6.4952	0.22138	0.356:0.0:0.2457:0.3983	.	957;958	C9J5X1;P08069	.;IGF1R_HUMAN	S	958	ENSP00000268035:F958S	ENSP00000268035:F958S	F	+	2	0	IGF1R	97290400	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	0.892000	0.28322	0.371000	0.24564	0.533000	0.62120	TTC		0.438	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
TLR7	51284	hgsc.bcm.edu	37	X	12904056	12904056	+	Silent	SNP	G	G	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chrX:12904056G>A	ENST00000380659.3	+	3	568	c.429G>A	c.(427-429)ccG>ccA	p.P143P		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	143					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TAGAGATACCGCAGGGCCTCC	0.448																																																	0			X											57.0	58.0	58.0					X																	12904056		2203	4299	6502	12813977	SO:0001819	synonymous_variant	51284			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.429G>A	X.37:g.12904056G>A			12813977	D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	CCDS14151.1																																																																																				0.448	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562	
YY2	404281	hgsc.bcm.edu	37	X	21874910	21874910	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chrX:21874910A>G	ENST00000429584.2	+	1	806	c.308A>G	c.(307-309)gAc>gGc	p.D103G	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	103			D -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						GACTTGGAGGACCAGTTGGCC	0.562																																																	0			X											99.0	79.0	86.0					X																	21874910		2203	4300	6503	21784831	SO:0001583	missense	404281			AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.308A>G	X.37:g.21874910A>G	ENSP00000389381:p.Asp103Gly		21784831	B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086854	0.55861	.	.	ENSG00000230797	ENST00000429584	T	0.14144	2.53	3.99	-0.82	0.10826	.	0.578618	0.16301	U	0.220444	T	0.11965	0.0291	L	0.52573	1.65	0.09310	N	1	B	0.19200	0.034	B	0.16722	0.016	T	0.21075	-1.0256	10	0.72032	D	0.01	.	7.8239	0.29303	0.5718:0.0:0.4282:0.0	.	103	O15391	TYY2_HUMAN	G	103	ENSP00000389381:D103G	ENSP00000389381:D103G	D	+	2	0	YY2	21784831	0.716000	0.27956	0.000000	0.03702	0.006000	0.05464	2.264000	0.43302	-0.279000	0.09167	0.486000	0.48141	GAC		0.562	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923	
ZNF41	7592	hgsc.bcm.edu	37	X	47315383	47315383	+	Missense_Mutation	SNP	T	T	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chrX:47315383T>G	ENST00000377065.4	-	4	871	c.232A>C	c.(232-234)Aag>Cag	p.K78Q	ZNF41_ENST00000397050.2_Missense_Mutation_p.K88Q|ZNF41_ENST00000313116.7_Missense_Mutation_p.K78Q|ZNF41_ENST00000465311.1_5'UTR	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	120	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGCTCCAACTTGAAGGCAGCC	0.537																																																	0			X											100.0	84.0	89.0					X																	47315383		2203	4300	6503	47200327	SO:0001583	missense	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.232A>C	X.37:g.47315383T>G	ENSP00000366265:p.Lys78Gln		47200327	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	T	1.078	-0.667768	0.03428	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050;ENST00000432977	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	2.32	1.08	0.20341	Krueppel-associated box (3);	0.682383	0.12047	N	0.504429	T	0.23846	0.0577	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B	0.34015	0.002;0.002;0.435;0.003;0.002	B;B;B;B;B	0.28139	0.008;0.008;0.086;0.008;0.004	T	0.15065	-1.0450	10	0.15066	T	0.55	.	6.2632	0.20912	0.0:0.0:0.2532:0.7468	.	78;80;88;112;120	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	Q	78;78;88;88	ENSP00000315173:K78Q;ENSP00000366265:K78Q;ENSP00000380243:K88Q;ENSP00000390385:K88Q	ENSP00000315173:K78Q	K	-	1	0	ZNF41	47200327	0.153000	0.22777	0.156000	0.22583	0.214000	0.24535	0.211000	0.17474	0.212000	0.20703	0.242000	0.17961	AAG		0.537	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380	
ARMCX2	9823	hgsc.bcm.edu	37	X	100911496	100911496	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chrX:100911496C>T	ENST00000328766.5	-	5	1532	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	ARMCX2_ENST00000356824.4_Missense_Mutation_p.R360H|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.R360H	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	360						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCTCCCTCTGCGCTGGGTCTC	0.582													C|||	1	0.000264901	0.0	0.0	3775	,	,		12834	0.0		0.0	False		,,,				2504	0.001																0			X											73.0	63.0	66.0					X																	100911496		2203	4300	6503	100798152	SO:0001583	missense	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1079G>A	X.37:g.100911496C>T	ENSP00000331662:p.Arg360His		100798152	O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	C	0.464	-0.887682	0.02511	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.30981	1.51;1.51;1.51	3.66	-1.98	0.07480	.	2.250750	0.01580	N	0.021058	T	0.18759	0.0450	N	0.08118	0	0.19945	N	0.999942	B	0.13145	0.007	B	0.08055	0.003	T	0.31475	-0.9942	10	0.48119	T	0.1	2.551	10.7037	0.45942	0.0:0.1576:0.0:0.8424	.	360	Q7L311	ARMX2_HUMAN	H	360	ENSP00000331662:R360H;ENSP00000328631:R360H;ENSP00000349281:R360H	ENSP00000331662:R360H	R	-	2	0	ARMCX2	100798152	0.185000	0.23213	0.288000	0.24862	0.128000	0.20619	-0.408000	0.07169	-0.543000	0.06240	-0.508000	0.04489	CGC		0.582	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782	
PLP1	5354	hgsc.bcm.edu	37	X	103041613	103041613	+	Silent	SNP	G	G	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chrX:103041613G>A	ENST00000303958.2	+	3	557	c.411G>A	c.(409-411)cgG>cgA	p.R137R	PLP1_ENST00000418604.1_Silent_p.R137R|PLP1_ENST00000361621.2_Intron	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	137			Missing (in HLD1).|R -> W (in SPG2). {ECO:0000269|PubMed:17438221}.		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CTTTGGAGCGGGTGTGTCATT	0.552																																																	0			X											148.0	126.0	133.0					X																	103041613		2203	4300	6503	102928269	SO:0001819	synonymous_variant	5354			M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.411G>A	X.37:g.103041613G>A			102928269	P04400|P06905|Q502Y1|Q6FHZ6	Silent	SNP	ENST00000303958.2	37	CCDS14513.1																																																																																				0.552	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2		
GRIA3	2892	hgsc.bcm.edu	37	X	122616762	122616762	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chrX:122616762G>A	ENST00000371251.1	+	15	2604	c.2552G>A	c.(2551-2553)cGg>cAg	p.R851Q	GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000264357.5_Missense_Mutation_p.R851Q|GRIA3_ENST00000371256.5_Missense_Mutation_p.R851Q			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	851					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TACAAATCACGGGCAGAGTCC	0.478																																																	0			X											121.0	100.0	108.0					X																	122616762		2203	4300	6503	122444443	SO:0001583	missense	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2552G>A	X.37:g.122616762G>A	ENSP00000360297:p.Arg851Gln		122444443	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139663	0.94560	.	.	ENSG00000125675	ENST00000264357;ENST00000371256;ENST00000371251	T;T;T	0.15718	2.41;2.4;2.41	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.28001	0.0690	M	0.85041	2.73	0.80722	D	1	P;P	0.39624	0.553;0.681	B;B	0.34385	0.088;0.181	T	0.22836	-1.0205	10	0.87932	D	0	.	17.8613	0.88781	0.0:0.0:1.0:0.0	.	851;851	P42263;P42263-2	GRIA3_HUMAN;.	Q	851	ENSP00000264357:R851Q;ENSP00000360302:R851Q;ENSP00000360297:R851Q	ENSP00000264357:R851Q	R	+	2	0	GRIA3	122444443	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.436000	0.82500	0.600000	0.82982	CGG		0.478	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828	
ACTRT1	139741	hgsc.bcm.edu	37	X	127185564	127185564	+	Missense_Mutation	SNP	T	T	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chrX:127185564T>A	ENST00000371124.3	-	1	818	c.622A>T	c.(622-624)Aac>Tac	p.N208Y		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	208						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ACGGCCTTGTTGAGTATGCAA	0.537																																																	0			X											113.0	109.0	110.0					X																	127185564		2203	4300	6503	127013245	SO:0001583	missense	139741			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.622A>T	X.37:g.127185564T>A	ENSP00000360165:p.Asn208Tyr		127013245	Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	T	8.139	0.784736	0.16189	.	.	ENSG00000123165	ENST00000371124	T	0.31769	1.48	3.48	1.02	0.19986	.	0.275955	0.29438	N	0.012143	T	0.24431	0.0592	L	0.59436	1.845	0.20926	N	0.999821	B	0.19445	0.036	B	0.19391	0.025	T	0.27123	-1.0083	10	0.87932	D	0	.	2.9158	0.05752	0.0:0.2576:0.2331:0.5094	.	208	Q8TDG2	ACTT1_HUMAN	Y	208	ENSP00000360165:N208Y	ENSP00000360165:N208Y	N	-	1	0	ACTRT1	127013245	0.946000	0.32159	0.007000	0.13788	0.001000	0.01503	1.980000	0.40618	0.105000	0.17753	-0.507000	0.04495	AAC		0.537	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289	
GPR101	83550	hgsc.bcm.edu	37	X	136113068	136113068	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chrX:136113068A>G	ENST00000298110.1	-	1	765	c.766T>C	c.(766-768)Ttc>Ctc	p.F256L		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.F256I(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TCATCCTGGAACTCCTCCTTC	0.547																																																	1	Substitution - Missense(1)	ovary(1)	X											158.0	132.0	141.0					X																	136113068		2203	4300	6503	135940734	SO:0001583	missense	83550			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.766T>C	X.37:g.136113068A>G	ENSP00000298110:p.Phe256Leu		135940734	Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.952496	0.00470	.	.	ENSG00000165370	ENST00000298110	T	0.62639	0.01	4.46	-2.34	0.06704	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.37019	0.0988	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.23297	-1.0192	9	0.09843	T	0.71	-3.9407	4.3692	0.11239	0.337:0.3493:0.3137:0.0	.	256	Q96P66	GP101_HUMAN	L	256	ENSP00000298110:F256L	ENSP00000298110:F256L	F	-	1	0	GPR101	135940734	0.009000	0.17119	0.000000	0.03702	0.017000	0.09413	0.827000	0.27421	-0.401000	0.07644	-0.369000	0.07265	TTC		0.547	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1		
ZBTB49	166793	hgsc.bcm.edu	37	4	4303787	4303787	+	Missense_Mutation	SNP	T	T	C	rs145711052		TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr4:4303787T>C	ENST00000337872.4	+	3	345	c.224T>C	c.(223-225)aTa>aCa	p.I75T	ZBTB49_ENST00000355834.3_Missense_Mutation_p.I75T|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	75	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GTCAGTGGCATAGGGCAGATC	0.383																																																	0			4						T	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	118.0	108.0	111.0		224	5.4	1.0	4	dbSNP_134	111	0,8600		0,0,4300	no	missense	ZBTB49	NM_145291.3	89	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	75/766	4303787	1,13005	2203	4300	6503	4354688	SO:0001583	missense	0			AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.224T>C	4.37:g.4303787T>C	ENSP00000338807:p.Ile75Thr		4354688	Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.525127	0.85600	2.27E-4	0.0	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000502918	T;T;T	0.67865	-0.29;-0.29;-0.29	5.38	5.38	0.77491	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000006	T	0.79913	0.4528	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82125	-0.0612	10	0.87932	D	0	.	15.6808	0.77367	0.0:0.0:0.0:1.0	.	75	Q6ZSB9	ZBT49_HUMAN	T	75	ENSP00000348091:I75T;ENSP00000338807:I75T;ENSP00000425747:I75T	ENSP00000338807:I75T	I	+	2	0	ZBTB49	4354688	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	7.806000	0.86020	2.179000	0.69175	0.477000	0.44152	ATA		0.383	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291	
PROM1	8842	hgsc.bcm.edu	37	4	15993986	15993986	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr4:15993986T>C	ENST00000510224.1	-	17	2044	c.1796A>G	c.(1795-1797)gAa>gGa	p.E599G	PROM1_ENST00000447510.2_Missense_Mutation_p.E599G|PROM1_ENST00000540805.1_Missense_Mutation_p.E599G|PROM1_ENST00000508167.1_Missense_Mutation_p.E590G|PROM1_ENST00000539194.1_Missense_Mutation_p.E599G|PROM1_ENST00000505450.1_Missense_Mutation_p.E590G|PROM1_ENST00000543373.1_Missense_Mutation_p.E590G			O43490	PROM1_HUMAN	prominin 1	599					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						CTTCAGACTTTCCAATTCACT	0.373																																																	0			4											78.0	77.0	77.0					4																	15993986		1844	4102	5946	15603084	SO:0001583	missense	8842			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1796A>G	4.37:g.15993986T>C	ENSP00000426809:p.Glu599Gly		15603084	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	ENST00000510224.1	37	CCDS47029.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.171998	0.57584	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.29	4.09	0.47781	.	0.353403	0.34652	N	0.003797	T	0.58466	0.2124	M	0.73962	2.25	0.09310	N	0.999997	D;D;D;D;P;P	0.54964	0.969;0.969;0.969;0.969;0.952;0.949	P;P;P;P;P;P	0.54544	0.755;0.755;0.755;0.755;0.575;0.733	T	0.52697	-0.8541	10	0.42905	T	0.14	-6.2559	10.2054	0.43109	0.0:0.0:0.1672:0.8328	.	590;599;590;599;590;599	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	G	599;599;599;590;590;599;590	ENSP00000415481:E599G;ENSP00000438045:E599G;ENSP00000443620:E599G;ENSP00000426090:E590G;ENSP00000427346:E590G;ENSP00000426809:E599G;ENSP00000445526:E590G	ENSP00000415481:E599G	E	-	2	0	PROM1	15603084	0.012000	0.17670	0.002000	0.10522	0.007000	0.05969	1.671000	0.37513	0.826000	0.34661	0.533000	0.62120	GAA		0.373	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017	
ANAPC4	29945	hgsc.bcm.edu	37	4	25392591	25392591	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr4:25392591T>C	ENST00000315368.3	+	9	801	c.659T>C	c.(658-660)gTc>gCc	p.V220A	ANAPC4_ENST00000510092.1_Missense_Mutation_p.V220A	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTATCAGTGGTCACAGAAGTC	0.348																																																	0			4											183.0	180.0	181.0					4																	25392591		2203	4299	6502	25001689	SO:0001583	missense	29945			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.659T>C	4.37:g.25392591T>C	ENSP00000318775:p.Val220Ala		25001689	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.254810	0.59212	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.25579	1.79;1.79	5.74	5.74	0.90152	WD40 repeat-like-containing domain (1);	0.099806	0.64402	D	0.000002	T	0.23532	0.0569	L	0.42245	1.32	0.41711	D	0.989456	P;B;P	0.42692	0.787;0.435;0.622	B;B;B	0.38264	0.269;0.078;0.152	T	0.02917	-1.1094	10	0.24483	T	0.36	-17.3294	16.0363	0.80631	0.0:0.0:0.0:1.0	.	220;220;220	Q9UJX5-2;E9PCR4;Q9UJX5	.;.;APC4_HUMAN	A	220	ENSP00000318775:V220A;ENSP00000426654:V220A	ENSP00000318775:V220A	V	+	2	0	ANAPC4	25001689	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.579000	0.74036	2.200000	0.70718	0.477000	0.44152	GTC		0.348	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367	
PDS5A	23244	hgsc.bcm.edu	37	4	39839791	39839791	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr4:39839791C>T	ENST00000303538.8	-	32	4234	c.3695G>A	c.(3694-3696)aGc>aAc	p.S1232N		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.S1232N(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TCGGTCACTGCTGATGTTGCC	0.388																																																	1	Substitution - Missense(1)	lung(1)	4											77.0	73.0	74.0					4																	39839791		1895	4119	6014	39516186	SO:0001583	missense	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3695G>A	4.37:g.39839791C>T	ENSP00000303427:p.Ser1232Asn		39516186		Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.988033	0.53934	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.34	5.34	0.76211	.	0.371511	0.32719	N	0.005738	T	0.38931	0.1059	N	0.08118	0	0.80722	D	1	B	0.23990	0.095	B	0.20955	0.032	T	0.23691	-1.0181	8	.	.	.	-9.5515	19.0327	0.92963	0.0:1.0:0.0:0.0	.	1232	Q29RF7	PDS5A_HUMAN	N	1232	.	.	S	-	2	0	PDS5A	39516186	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.114000	0.64648	2.502000	0.84385	0.655000	0.94253	AGC		0.388	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200	
CDS1	1040	hgsc.bcm.edu	37	4	85560117	85560117	+	Missense_Mutation	SNP	T	T	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr4:85560117T>G	ENST00000295887.5	+	9	1274	c.851T>G	c.(850-852)tTc>tGc	p.F284C		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ATTGGTGGTTTCTTTTCCACA	0.299																																																	0			4											110.0	106.0	107.0					4																	85560117		2202	4297	6499	85779141	SO:0001583	missense	11200			U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.851T>G	4.37:g.85560117T>G	ENSP00000295887:p.Phe284Cys		85779141	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000295887.5	37	CCDS3608.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.991687	0.35131	.	.	ENSG00000163624	ENST00000295887	T	0.49720	0.77	4.63	4.63	0.57726	.	0.300242	0.41712	D	0.000826	T	0.42517	0.1206	L	0.52759	1.655	0.54753	D	0.99998	B	0.18013	0.025	B	0.24394	0.053	T	0.33854	-0.9852	10	0.38643	T	0.18	-10.3076	11.5397	0.50659	0.0:0.0:0.1489:0.851	.	284	Q92903	CDS1_HUMAN	C	284	ENSP00000295887:F284C	ENSP00000295887:F284C	F	+	2	0	CDS1	85779141	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.062000	0.71155	1.950000	0.56595	0.455000	0.32223	TTC		0.299	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2		
EMCN	51705	hgsc.bcm.edu	37	4	101401184	101401184	+	Missense_Mutation	SNP	G	G	A	rs199976013		TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr4:101401184G>A	ENST00000296420.4	-	2	255	c.77C>T	c.(76-78)gCa>gTa	p.A26V	EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000305864.3_Missense_Mutation_p.A26V|EMCN_ENST00000511970.1_Missense_Mutation_p.A26V	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	26						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		ATTATTAGCTGCCTCTAAAAC	0.313																																																	0			4						T	VAL/ALA,VAL/ALA	1,4401	2.1+/-5.4	0,1,2200	117.0	107.0	110.0		77,77	-7.8	0.0	4		110	0,8592		0,0,4296	no	missense,missense	EMCN	NM_001159694.1,NM_016242.3	64,64	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	26/249,26/262	101401184	1,12993	2201	4296	6497	101620207	SO:0001583	missense	51705			AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"""Mucins"""	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.77C>T	4.37:g.101401184G>A	ENSP00000296420:p.Ala26Val		101620207	A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Missense_Mutation	SNP	ENST00000296420.4	37	CCDS3655.1	.	.	.	.	.	.	.	.	.	.	g	8.620	0.891133	0.17613	2.27E-4	0.0	ENSG00000164035	ENST00000296420;ENST00000305864;ENST00000511970;ENST00000502569	.	.	.	3.9	-7.81	0.01210	.	6.403370	0.00481	U	0.000127	T	0.16727	0.0402	N	0.14661	0.345	0.09310	N	1	B;B;B	0.18968	0.025;0.032;0.032	B;B;B	0.19666	0.015;0.026;0.026	T	0.10753	-1.0616	9	0.28530	T	0.3	.	1.1016	0.01685	0.2962:0.1074:0.164:0.4324	.	26;26;26	Q9ULC0-2;B4E347;Q9ULC0	.;.;MUCEN_HUMAN	V	26	.	ENSP00000296420:A26V	A	-	2	0	EMCN	101620207	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.007000	0.00160	-2.160000	0.00786	-1.094000	0.02160	GCA		0.313	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253699.2	NM_016242	
NRXN1	9378	hgsc.bcm.edu	37	2	50850690	50850690	+	Missense_Mutation	SNP	T	T	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr2:50850690T>A	ENST00000406316.2	-	6	2372	c.896A>T	c.(895-897)aAc>aTc	p.N299I	NRXN1_ENST00000401669.2_Missense_Mutation_p.N299I|NRXN1_ENST00000402717.3_Missense_Mutation_p.N299I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.N299I|NRXN1_ENST00000404971.1_Missense_Mutation_p.N332I|NRXN1_ENST00000406859.3_Missense_Mutation_p.N299I	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	299	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTGAATGGGGTTTTGAGACAA	0.378																																																	0			2											137.0	127.0	130.0					2																	50850690		1871	4097	5968	50704194	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.896A>T	2.37:g.50850690T>A	ENSP00000384311:p.Asn299Ile		50704194	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006383	0.74932	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.24;-1.36;-1.24;-1.36	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.86058	0.5842	L	0.43923	1.385	0.47949	D	0.999556	D;D	0.76494	0.967;0.999	D;D	0.85130	0.928;0.997	D	0.87256	0.2276	10	0.66056	D	0.02	.	15.4704	0.75437	0.0:0.0:0.0:1.0	.	332;299	Q9ULB1-3;F8WB18	.;.	I	332;299;299;299;333;299;299	ENSP00000385142:N332I;ENSP00000384311:N299I;ENSP00000434015:N299I;ENSP00000385017:N299I;ENSP00000385434:N299I;ENSP00000385681:N299I	ENSP00000385017:N299I	N	-	2	0	NRXN1	50704194	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	2.240000	0.73641	0.528000	0.53228	AAC		0.378	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
CCDC88A	55704	hgsc.bcm.edu	37	2	55536107	55536107	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr2:55536107C>A	ENST00000436346.1	-	25	5066	c.4225G>T	c.(4225-4227)Gat>Tat	p.D1409Y	CCDC88A_ENST00000413716.2_Missense_Mutation_p.D1408Y|AC012358.8_ENST00000366287.4_RNA|CCDC88A_ENST00000422883.2_Missense_Mutation_p.D32Y|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D1408Y|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D1409Y	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1409					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CGATTAATATCTTTCTTAGAC	0.353																																																	0			2											90.0	88.0	89.0					2																	55536107		2203	4300	6503	55389611	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.4225G>T	2.37:g.55536107C>A	ENSP00000410608:p.Asp1409Tyr		55389611	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.7|21.7|21.7	4.182161|4.182161|4.182161	0.78677|0.78677|0.78677	.|.|.	.|.|.	ENSG00000115355|ENSG00000115355|ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000413716;ENST00000426576|ENST00000444458|ENST00000456975	T;T;T;T;T;T|.|.	0.46451|.|.	2.43;2.66;2.65;0.87;2.44;1.4|.|.	4.75|4.75|4.75	4.75|4.75|4.75	0.60458|0.60458|0.60458	.|.|.	0.000000|.|.	0.49305|.|.	U|.|.	0.000143|.|.	T|T|T	0.62998|0.62998|0.62998	0.2474|0.2474|0.2474	L|L|L	0.44542|0.44542|0.44542	1.39|1.39|1.39	0.38295|0.38295|0.38295	D|D|D	0.942825|0.942825|0.942825	P;P;P;D;P;P;P|.|.	0.69078|.|.	0.913;0.955;0.924;0.997;0.823;0.955;0.955|.|.	P;P;P;P;P;P;P|.|.	0.60345|.|.	0.786;0.748;0.564;0.873;0.707;0.748;0.748|.|.	T|T|T	0.63528|0.63528|0.63528	-0.6617|-0.6617|-0.6617	10|6|5	0.87932|0.54805|.	D|T|.	0|0.06|.	-12.3101|-12.3101|-12.3101	18.1082|18.1082|18.1082	0.89527|0.89527|0.89527	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	1408;1409;1354;32;1409;1408;1408|.|.	B7ZM78;Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.|.	.;.;.;.;GRDN_HUMAN;.;.|.|.	Y|N|I	1408;1409;1409;32;454;1408;584|33|389	ENSP00000338728:D1408Y;ENSP00000263630:D1409Y;ENSP00000410608:D1409Y;ENSP00000390012:D454Y;ENSP00000404431:D1408Y;ENSP00000405080:D584Y|.|.	ENSP00000263630:D1409Y|ENSP00000413401:K33N|.	D|K|R	-|-|-	1|3|2	0|2|0	CCDC88A|CCDC88A|CCDC88A	55389611|55389611|55389611	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	5.671000|5.671000|5.671000	0.68095|0.68095|0.68095	2.332000|2.332000|2.332000	0.79248|0.79248|0.79248	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAT|AAG|AGA		0.353	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
SEMA4F	10505	hgsc.bcm.edu	37	2	74900823	74900823	+	Silent	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr2:74900823C>T	ENST00000357877.2	+	7	839	c.690C>T	c.(688-690)gcC>gcT	p.A230A	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	230	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TTGTCGCAGCCGTGGCCTTGA	0.567																																																	0			2											64.0	63.0	63.0					2																	74900823		2203	4300	6503	74754331	SO:0001819	synonymous_variant	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.690C>T	2.37:g.74900823C>T			74754331	Q542Y7|Q9NS35	Silent	SNP	ENST00000357877.2	37	CCDS1955.1																																																																																				0.567	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263	
IL1RL2	8808	hgsc.bcm.edu	37	2	102805702	102805702	+	Missense_Mutation	SNP	G	G	T	rs200302961		TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr2:102805702G>T	ENST00000264257.2	+	3	351	c.225G>T	c.(223-225)caG>caT	p.Q75H	IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.Q75H	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	75	Ig-like C2-type 1.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GAATTCACCAGGACGAGACTT	0.398																																																	0			2											70.0	69.0	69.0					2																	102805702		2203	4300	6503	102172134	SO:0001583	missense	8808			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.225G>T	2.37:g.102805702G>T	ENSP00000264257:p.Gln75His		102172134	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.653647	0.67472	.	.	ENSG00000115598	ENST00000264257;ENST00000421464;ENST00000539491	T;T;T	0.35605	4.07;1.3;4.07	5.86	4.04	0.47022	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.306760	0.33161	N	0.005207	T	0.56321	0.1977	M	0.77103	2.36	0.41935	D	0.990582	D	0.89917	1.0	D	0.91635	0.999	T	0.57015	-0.7883	10	0.37606	T	0.19	.	9.2879	0.37769	0.172:0.0:0.828:0.0	.	75	Q9HB29	ILRL2_HUMAN	H	75	ENSP00000264257:Q75H;ENSP00000387611:Q75H;ENSP00000442184:Q75H	ENSP00000264257:Q75H	Q	+	3	2	IL1RL2	102172134	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.601000	0.46249	1.626000	0.50381	0.650000	0.86243	CAG		0.398	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854	
MERTK	10461	hgsc.bcm.edu	37	2	112740567	112740567	+	Silent	SNP	T	T	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr2:112740567T>C	ENST00000295408.4	+	8	1550	c.1293T>C	c.(1291-1293)atT>atC	p.I431I	MERTK_ENST00000409780.1_Silent_p.I255I|MERTK_ENST00000421804.2_Silent_p.I431I			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	431	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGCAGGGATTTCCGTAAGTC	0.458																																																	0			2											107.0	102.0	104.0					2																	112740567		2203	4300	6503	112457038	SO:0001819	synonymous_variant	10461			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1293T>C	2.37:g.112740567T>C			112457038	Q9HBB4	Silent	SNP	ENST00000295408.4	37	CCDS2094.1																																																																																				0.458	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2		
WDR33	55339	hgsc.bcm.edu	37	2	128482644	128482644	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr2:128482644C>T	ENST00000322313.4	-	9	1155	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	333					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CCTGTGGCTTCTTTCTTATGA	0.403																																																	0			2											85.0	82.0	83.0					2																	128482644		2203	4300	6503	128199114	SO:0001583	missense	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.997G>A	2.37:g.128482644C>T	ENSP00000325377:p.Glu333Lys		128199114	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757683	0.89843	.	.	ENSG00000136709	ENST00000322313	T	0.60040	0.22	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72930	0.3522	L	0.49640	1.575	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.74337	-0.3698	10	0.72032	D	0.01	-16.59	19.4772	0.94994	0.0:1.0:0.0:0.0	.	333	Q9C0J8	WDR33_HUMAN	K	333	ENSP00000325377:E333K	ENSP00000325377:E333K	E	-	1	0	WDR33	128199114	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.629000	0.83207	2.602000	0.87976	0.563000	0.77884	GAA		0.403	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383	
XIRP2	129446	hgsc.bcm.edu	37	2	168100204	168100204	+	Silent	SNP	A	A	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr2:168100204A>C	ENST00000409195.1	+	9	2391	c.2302A>C	c.(2302-2304)Aga>Cga	p.R768R	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.R768R|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.R546R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	593					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGGAGATGTAAGAACAGCACG	0.378																																																	0			2											73.0	67.0	69.0					2																	168100204		1860	4093	5953	167808450	SO:0001819	synonymous_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2302A>C	2.37:g.168100204A>C			167808450	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	CCDS42769.1																																																																																				0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	hgsc.bcm.edu	37	2	168105245	168105245	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr2:168105245C>A	ENST00000409195.1	+	9	7432	c.7343C>A	c.(7342-7344)aCc>aAc	p.T2448N	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2448N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2226N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2273					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAACTGGCAACCTCCCTGTCA	0.423																																																	0			2											88.0	87.0	87.0					2																	168105245		1848	4113	5961	167813491	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7343C>A	2.37:g.168105245C>A	ENSP00000386840:p.Thr2448Asn		167813491	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.564110	0.00134	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02446	4.29;4.29;4.3	5.85	-3.23	0.05109	.	0.853088	0.10558	N	0.660562	T	0.00608	0.0020	N	0.00347	-1.61	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.48103	-0.9064	10	0.09084	T	0.74	-7.3652	1.1806	0.01844	0.1621:0.3492:0.1824:0.3063	.	2273;2273;2226	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	2448;2448;2226	ENSP00000386840:T2448N;ENSP00000295237:T2448N;ENSP00000387255:T2226N	ENSP00000295237:T2448N	T	+	2	0	XIRP2	167813491	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.282000	0.08445	-0.131000	0.11578	-0.280000	0.10049	ACC		0.423	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
PRKRA	8575	hgsc.bcm.edu	37	2	179296906	179296906	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr2:179296906G>A	ENST00000325748.4	-	8	1060	c.860C>T	c.(859-861)tCc>tTc	p.S287F	PRKRA_ENST00000438687.3_Missense_Mutation_p.S174F|AC009948.5_ENST00000415236.1_RNA|AC009948.5_ENST00000436616.2_RNA|AC009948.5_ENST00000454488.1_RNA|AC009948.5_ENST00000453026.2_RNA|AC009948.5_ENST00000420672.1_RNA|PRKRA_ENST00000487082.1_Missense_Mutation_p.S262F|PRKRA_ENST00000432031.2_Missense_Mutation_p.S276F|AC009948.5_ENST00000450044.1_RNA	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	287	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			GGAGATACCGGAGCCATGACA	0.428																																					Melanoma(200;68 3001 23825 48764)												0			2											149.0	129.0	136.0					2																	179296906		2203	4300	6503	179005152	SO:0001583	missense	8575			AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.860C>T	2.37:g.179296906G>A	ENSP00000318176:p.Ser287Phe		179005152	A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Missense_Mutation	SNP	ENST00000325748.4	37	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720677	0.30503	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.12	2.3	0.28687	Double-stranded RNA-binding (2);	0.318671	0.26711	N	0.022895	T	0.81394	0.4813	L	0.45137	1.4	0.21802	N	0.999538	B;D	0.54601	0.103;0.967	B;P	0.55303	0.029;0.773	T	0.70586	-0.4831	10	0.36615	T	0.2	.	7.4038	0.26979	0.1603:0.1466:0.6931:0.0	.	287;276	O75569;O75569-2	PRKRA_HUMAN;.	F	287;174;262;276	ENSP00000318176:S287F;ENSP00000398980:S174F;ENSP00000430604:S262F;ENSP00000393883:S276F	ENSP00000318176:S287F	S	-	2	0	PRKRA	179005152	1.000000	0.71417	0.497000	0.27552	0.978000	0.69477	3.142000	0.50601	0.185000	0.20105	0.467000	0.42956	TCC		0.428	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690	
TTN	7273	hgsc.bcm.edu	37	2	179472247	179472247	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr2:179472247A>G	ENST00000591111.1	-	227	48469	c.48245T>C	c.(48244-48246)gTt>gCt	p.V16082A	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V8850A|TTN_ENST00000460472.2_Missense_Mutation_p.V8658A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15155A|TTN_ENST00000589042.1_Missense_Mutation_p.V17723A|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V8783A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16082	Ig-like 99.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGTTCCAACGTTGTCTAT	0.433																																																	0			2											426.0	400.0	408.0					2																	179472247		1903	4128	6031	179180492	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48245T>C	2.37:g.179472247A>G	ENSP00000465570:p.Val16082Ala		179180492	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	9.990	1.230469	0.22542	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52419	0.1733	N	0.11724	0.165	0.38706	D	0.953097	B;B;B;B	0.21821	0.061;0.061;0.061;0.061	B;B;B;B	0.20767	0.031;0.031;0.031;0.031	T	0.55173	-0.8182	9	0.87932	D	0	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	8658;8783;8850;16082	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	15155;8658;8850;8783;8658	ENSP00000343764:V15155A;ENSP00000434586:V8658A;ENSP00000340554:V8850A;ENSP00000352154:V8783A	ENSP00000340554:V8850A	V	-	2	0	TTN	179180492	1.000000	0.71417	0.995000	0.50966	0.904000	0.53231	5.463000	0.66712	2.291000	0.77112	0.533000	0.62120	GTT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CALCRL	10203	hgsc.bcm.edu	37	2	188217025	188217025	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr2:188217025A>G	ENST00000409998.1	-	14	1725	c.944T>C	c.(943-945)gTt>gCt	p.V315A	CALCRL_ENST00000392370.3_Missense_Mutation_p.V315A|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.V315A|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	315					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)	p.V315A(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GGTGATGAGAACGCGTACAAT	0.333																																																	1	Substitution - Missense(1)	large_intestine(1)	2											52.0	50.0	51.0					2																	188217025		2203	4299	6502	187925270	SO:0001583	missense	10203			U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.944T>C	2.37:g.188217025A>G	ENSP00000386972:p.Val315Ala		187925270	A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.809543	0.90707	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.49432	0.78;0.78;0.78	5.82	5.82	0.92795	GPCR, family 2-like (1);	0.000000	0.56097	D	0.000021	T	0.78188	0.4244	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85015	0.0908	10	0.87932	D	0	.	15.3496	0.74373	1.0:0.0:0.0:0.0	.	315	Q16602	CALRL_HUMAN	A	315	ENSP00000376177:V315A;ENSP00000386972:V315A;ENSP00000387190:V315A	ENSP00000376177:V315A	V	-	2	0	CALCRL	187925270	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.326000	0.96389	2.225000	0.72522	0.528000	0.53228	GTT		0.333	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795	
FN1	2335	hgsc.bcm.edu	37	2	216298121	216298121	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr2:216298121C>T	ENST00000359671.1	-	3	606	c.341G>A	c.(340-342)cGt>cAt	p.R114H	FN1_ENST00000346544.3_Missense_Mutation_p.R114H|FN1_ENST00000421182.1_Missense_Mutation_p.R114H|FN1_ENST00000345488.5_Missense_Mutation_p.R114H|FN1_ENST00000357867.4_Missense_Mutation_p.R114H|FN1_ENST00000446046.1_Missense_Mutation_p.R114H|FN1_ENST00000443816.1_Missense_Mutation_p.R114H|FN1_ENST00000354785.4_Missense_Mutation_p.R114H|FN1_ENST00000323926.6_Missense_Mutation_p.R114H|FN1_ENST00000336916.4_Missense_Mutation_p.R114H|FN1_ENST00000356005.4_Missense_Mutation_p.R114H|FN1_ENST00000432072.2_Missense_Mutation_p.R114H|FN1_ENST00000357009.2_Missense_Mutation_p.R114H|FN1_ENST00000426059.1_Missense_Mutation_p.R114H|AC012462.1_ENST00000412951.1_RNA			P02751	FINC_HUMAN	fibronectin 1	114	Fibrin- and heparin-binding 1.|Fibronectin type-I 2. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GTCTTTAGGACGCTCATAAGT	0.483																																																	0			2											153.0	131.0	138.0					2																	216298121		2203	4300	6503	216006366	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.341G>A	2.37:g.216298121C>T	ENSP00000352696:p.Arg114His		216006366	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	C	36	5.933140	0.97116	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.79251	0.4414	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D;P;D;D;D	0.97110	1.0;0.997;0.972;0.981;0.998;0.999;1.0;0.895;0.998;0.998;0.997	T	0.78846	-0.2043	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	114;114;114;114;114;114;114;114;114;114;114	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	H	114	ENSP00000394423:R114H;ENSP00000323534:R114H;ENSP00000338200:R114H;ENSP00000350534:R114H;ENSP00000346839:R114H;ENSP00000352696:R114H;ENSP00000265312:R114H;ENSP00000273049:R114H;ENSP00000349509:R114H;ENSP00000410422:R114H;ENSP00000415018:R114H;ENSP00000399538:R114H;ENSP00000348285:R114H;ENSP00000398907:R114H	ENSP00000265313:R114H	R	-	2	0	FN1	216006366	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.715000	0.68430	2.885000	0.99019	0.655000	0.94253	CGT		0.483	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
TNS1	7145	hgsc.bcm.edu	37	2	218713452	218713452	+	Silent	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr2:218713452C>T	ENST00000171887.4	-	17	1865	c.1413G>A	c.(1411-1413)tcG>tcA	p.S471S	TNS1_ENST00000419504.1_Silent_p.S471S|TNS1_ENST00000430930.1_Silent_p.S471S|TNS1_ENST00000480665.1_5'UTR	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	471					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGGCACAGCCGAGCCCCCTG	0.627																																																	0			2											66.0	68.0	67.0					2																	218713452		2203	4300	6503	218421697	SO:0001819	synonymous_variant	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1413G>A	2.37:g.218713452C>T			218421697	Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	CCDS2407.1																																																																																				0.627	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
SCG2	7857	hgsc.bcm.edu	37	2	224462614	224462614	+	Missense_Mutation	SNP	G	G	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr2:224462614G>C	ENST00000305409.2	-	2	1619	c.1387C>G	c.(1387-1389)Ctg>Gtg	p.L463V		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGCCTTGGCAGAACTTTCTCC	0.438																																																	0			2											114.0	114.0	114.0					2																	224462614		2203	4300	6503	224170858	SO:0001583	missense	7857			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1387C>G	2.37:g.224462614G>C	ENSP00000304133:p.Leu463Val		224170858	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963006	0.34659	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.02050	4.48	5.86	5.86	0.93980	.	0.092407	0.45606	D	0.000360	T	0.07728	0.0194	M	0.64997	1.995	0.44728	D	0.997725	P	0.49783	0.928	P	0.59171	0.853	T	0.11084	-1.0602	10	0.35671	T	0.21	.	10.2408	0.43310	0.1506:0.0:0.8494:0.0	.	463	P13521	SCG2_HUMAN	V	463;323	ENSP00000304133:L463V	ENSP00000304133:L463V	L	-	1	2	SCG2	224170858	0.739000	0.28196	0.285000	0.24819	0.707000	0.40811	1.264000	0.33015	2.781000	0.95711	0.650000	0.86243	CTG		0.438	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469	
SH3BP4	23677	hgsc.bcm.edu	37	2	235950065	235950065	+	Missense_Mutation	SNP	G	G	T	rs532208992		TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr2:235950065G>T	ENST00000409212.1	+	4	1159	c.652G>T	c.(652-654)Gat>Tat	p.D218Y	SH3BP4_ENST00000344528.4_Missense_Mutation_p.D218Y|SH3BP4_ENST00000392011.2_Missense_Mutation_p.D218Y			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	218					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAACATCTTCGATGAGCTTCC	0.542																																																	0			2											92.0	99.0	96.0					2																	235950065		2203	4300	6503	235614804	SO:0001583	missense	23677			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.652G>T	2.37:g.235950065G>T	ENSP00000386862:p.Asp218Tyr		235614804	O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030458	0.35797	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	T;T;T	0.13089	2.62;2.62;2.62	5.58	5.58	0.84498	.	0.370625	0.31648	N	0.007285	T	0.15392	0.0371	L	0.27053	0.805	0.58432	D	0.999997	P;P	0.49447	0.924;0.8	P;B	0.44990	0.466;0.279	T	0.00842	-1.1544	10	0.87932	D	0	-4.0656	18.1499	0.89671	0.0:0.0:1.0:0.0	.	218;218	A8K594;Q9P0V3	.;SH3B4_HUMAN	Y	218	ENSP00000375867:D218Y;ENSP00000386862:D218Y;ENSP00000340237:D218Y	ENSP00000340237:D218Y	D	+	1	0	SH3BP4	235614804	1.000000	0.71417	0.263000	0.24496	0.691000	0.40173	4.980000	0.63812	2.621000	0.88768	0.650000	0.86243	GAT		0.542	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1		
ILKAP	80895	hgsc.bcm.edu	37	2	239090820	239090820	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr2:239090820A>G	ENST00000254654.3	-	9	897	c.722T>C	c.(721-723)tTg>tCg	p.L241S		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	241	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		ATAACGACACAAGATTGCCTG	0.413																																																	0			2											196.0	175.0	182.0					2																	239090820		2203	4300	6503	238755559	SO:0001583	missense	80895			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.722T>C	2.37:g.239090820A>G	ENSP00000254654:p.Leu241Ser		238755559	B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.577584	0.65878	.	.	ENSG00000132323	ENST00000254654;ENST00000450411	T;T	0.39406	1.08;1.08	5.37	5.37	0.77165	Protein phosphatase 2C-like (5);	0.072044	0.56097	D	0.000036	T	0.74869	0.3773	H	0.96208	3.785	0.58432	D	0.999991	D	0.89917	1.0	D	0.81914	0.995	D	0.83593	0.0124	10	0.87932	D	0	1.4726	14.3541	0.66724	1.0:0.0:0.0:0.0	.	241	Q9H0C8	ILKAP_HUMAN	S	241;58	ENSP00000254654:L241S;ENSP00000406254:L58S	ENSP00000254654:L241S	L	-	2	0	ILKAP	238755559	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	6.066000	0.71185	2.024000	0.59613	0.533000	0.62120	TTG		0.413	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768	
JAK2	3717	hgsc.bcm.edu	37	9	5022143	5022143	+	Silent	SNP	A	A	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr9:5022143A>T	ENST00000381652.3	+	3	650	c.156A>T	c.(154-156)gcA>gcT	p.A52A	JAK2_ENST00000539801.1_Silent_p.A52A	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	52	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AATCTGAGGCAGATTATCTGA	0.368		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0			9											142.0	138.0	139.0					9																	5022143		2203	4300	6503	5012143	SO:0001819	synonymous_variant	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.156A>T	9.37:g.5022143A>T			5012143	O14636|O75297	Silent	SNP	ENST00000381652.3	37	CCDS6457.1																																																																																				0.368	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
PLAA	9373	hgsc.bcm.edu	37	9	26906045	26906045	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr9:26906045G>A	ENST00000397292.3	-	14	2269	c.1852C>T	c.(1852-1854)Cgg>Tgg	p.R618W		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	618	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		ATTGACAACCGAAGAATGTCA	0.348																																					Melanoma(175;2670 2735 14091 35526)												0			9											37.0	40.0	39.0					9																	26906045		2191	4295	6486	26896045	SO:0001583	missense	9373			AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1852C>T	9.37:g.26906045G>A	ENSP00000380460:p.Arg618Trp		26896045	Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	CCDS35000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.03|17.03	3.285386|3.285386	0.59867|0.59867	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000397292|ENST00000517642	T|.	0.50001|.	0.76|.	6.07|6.07	6.07|6.07	0.98685|0.98685	PUL (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74891|0.74891	0.3776|0.3776	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.72887|0.72887	-0.4156|-0.4156	10|5	0.87932|.	D|.	0|.	-11.7749|-11.7749	16.2596|16.2596	0.82533|0.82533	0.0:0.0:0.8596:0.1404|0.0:0.0:0.8596:0.1404	.|.	618|.	Q9Y263|.	PLAP_HUMAN|.	W|L	618|235	ENSP00000380460:R618W|.	ENSP00000380460:R618W|.	R|S	-|-	1|2	2|0	PLAA|PLAA	26896045|26896045	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.642000|5.642000	0.67888|0.67888	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.348	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689	
UBAP2	55833	hgsc.bcm.edu	37	9	33927851	33927851	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr9:33927851C>T	ENST00000379238.1	-	20	2432	c.2315G>A	c.(2314-2316)gGg>gAg	p.G772E	UBAP2_ENST00000379239.4_Missense_Mutation_p.G505E|UBAP2_ENST00000379235.1_Missense_Mutation_p.G11E|UBAP2_ENST00000449054.1_Missense_Mutation_p.G772E|UBAP2_ENST00000418786.2_3'UTR|UBAP2_ENST00000360802.1_Missense_Mutation_p.G772E|UBAP2_ENST00000539807.1_Missense_Mutation_p.G527E					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CGCGGGGGTCCCACCCAGACA	0.647																																																	0			9											86.0	86.0	86.0					9																	33927851		2203	4300	6503	33917851	SO:0001583	missense	55833			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2315G>A	9.37:g.33927851C>T	ENSP00000368540:p.Gly772Glu		33917851		Missense_Mutation	SNP	ENST00000379238.1	37	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	6.546	0.468932	0.12461	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	5.92	1.67	0.24075	.	0.483078	0.24495	N	0.038021	T	0.18923	0.0454	L	0.43152	1.355	0.34905	D	0.746912	B;B;B;B;B	0.15930	0.015;0.015;0.015;0.007;0.009	B;B;B;B;B	0.18561	0.022;0.022;0.013;0.011;0.01	T	0.12268	-1.0554	10	0.29301	T	0.29	-0.9383	0.6284	0.00790	0.1957:0.3533:0.209:0.242	.	697;527;505;681;772	F5H4D5;F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;.;UBAP2_HUMAN	E	772;772;772;681;11;505;527;208	ENSP00000368540:G772E;ENSP00000416932:G772E;ENSP00000354039:G772E;ENSP00000368537:G11E;ENSP00000368541:G505E;ENSP00000439329:G527E	ENSP00000259602:G208E	G	-	2	0	UBAP2	33917851	0.001000	0.12720	0.011000	0.14972	0.014000	0.08584	0.618000	0.24373	0.412000	0.25729	0.655000	0.94253	GGG		0.647	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449	
CCDC180	100499483	hgsc.bcm.edu	37	9	100105779	100105779	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr9:100105779C>T	ENST00000357054.1	+	33	3916	c.2981C>T	c.(2980-2982)aCt>aTt	p.T994I	CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.T855I|CCDC180_ENST00000411667.2_Missense_Mutation_p.T852I|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.T855I|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	994						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T994I(1)									ATCAACGACACTTCCAGTGCC	0.383																																																	1	Substitution - Missense(1)	large_intestine(1)	9											104.0	97.0	100.0					9																	100105779		2203	4300	6503	99145600	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2981C>T	9.37:g.100105779C>T	ENSP00000349562:p.Thr994Ile		99145600	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	C	7.616	0.675831	0.14841	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.13089	3.02;3.06;2.62;3.06	5.39	-2.07	0.07276	.	2.428630	0.01127	N	0.005901	T	0.09335	0.0230	N	0.12182	0.205	0.09310	N	1	B;B;B	0.13145	0.007;0.001;0.003	B;B;B	0.10450	0.005;0.003;0.005	T	0.35450	-0.9788	10	0.35671	T	0.21	10.0467	10.4242	0.44367	0.0:0.4286:0.0:0.5714	.	878;994;994	Q86Y65;B7ZMG3;Q9P1Z9	.;.;CI174_HUMAN	I	994;855;852;878;855	ENSP00000349562:T994I;ENSP00000364348:T855I;ENSP00000414000:T852I;ENSP00000434727:T855I	ENSP00000349562:T994I	T	+	2	0	C9orf174	99145600	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.253000	0.08794	-0.350000	0.08262	0.655000	0.94253	ACT		0.383	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	
MUSK	4593	hgsc.bcm.edu	37	9	113563218	113563218	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr9:113563218C>T	ENST00000374448.4	+	15	2694	c.2560C>T	c.(2560-2562)Cga>Tga	p.R854*	MUSK_ENST00000416899.2_Nonsense_Mutation_p.R846*|MUSK_ENST00000189978.5_Nonsense_Mutation_p.R854*	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	854	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CAGTATTCACCGAATTCTGGA	0.507																																																	0			9											37.0	36.0	36.0					9																	113563218		2017	4188	6205	112603039	SO:0001587	stop_gained	4593			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2560C>T	9.37:g.113563218C>T	ENSP00000363571:p.Arg854*		112603039	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Nonsense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	38	7.179488	0.98118	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	.	.	.	5.62	3.72	0.42706	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4478	0.67364	0.2673:0.7327:0.0:0.0	.	.	.	.	X	860;854;854;768;768;852	.	ENSP00000189978:R860X	R	+	1	2	MUSK	112603039	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.228000	0.51270	0.790000	0.33803	0.557000	0.71058	CGA		0.507	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
ATP6V1G1	9550	hgsc.bcm.edu	37	9	117354865	117354865	+	Missense_Mutation	SNP	A	A	C	rs72752535	byFrequency	TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr9:117354865A>C	ENST00000374050.3	+	2	209	c.116A>C	c.(115-117)gAa>gCa	p.E39A	ATP6V1G1_ENST00000473413.1_3'UTR	NM_004888.3	NP_004879.1	O75348	VATG1_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1	39					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5						GCCAAAGAAGAAGCTCAGGCT	0.463													A|||	6	0.00119808	0.0	0.0014	5008	,	,		18424	0.001		0.003	False		,,,				2504	0.001																0			9						A	ALA/GLU	4,4390		0,4,2193	55.0	54.0	55.0		116	4.5	1.0	9	dbSNP_130	55	31,8559		0,31,4264	yes	missense	ATP6V1G1	NM_004888.3	107	0,35,6457	CC,CA,AA		0.3609,0.091,0.2696	benign	39/119	117354865	35,12949	2197	4295	6492	116394686	SO:0001583	missense	9550			AF038954	CCDS6807.1	9q33.1	2010-04-21	2006-01-13	2002-05-10	ENSG00000136888	ENSG00000136888		"""ATPases / V-type"""	864	protein-coding gene	gene with protein product		607296	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 1"""	ATP6J, ATP6G1		9653160	Standard	NM_004888		Approved	ATP6GL, Vma10, ATP6G, DKFZp547P234	uc004bjc.3	O75348	OTTHUMG00000021023	ENST00000374050.3:c.116A>C	9.37:g.117354865A>C	ENSP00000363162:p.Glu39Ala		116394686	Q6IB33	Missense_Mutation	SNP	ENST00000374050.3	37	CCDS6807.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	16.00	2.998943	0.54147	9.1E-4	0.003609	ENSG00000136888	ENST00000374050	T	0.55930	0.49	5.68	4.54	0.55810	.	0.148106	0.64402	N	0.000010	T	0.51568	0.1682	M	0.75085	2.285	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.50668	-0.8801	10	0.49607	T	0.09	.	10.1267	0.42654	0.9236:0.0:0.0764:0.0	.	39	O75348	VATG1_HUMAN	A	39	ENSP00000363162:E39A	ENSP00000363162:E39A	E	+	2	0	ATP6V1G1	116394686	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.709000	0.91379	1.091000	0.41335	0.528000	0.53228	GAA		0.463	ATP6V1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055454.1	NM_004888	
BRINP1	1620	hgsc.bcm.edu	37	9	121929963	121929963	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr9:121929963A>G	ENST00000265922.3	-	8	2146	c.1685T>C	c.(1684-1686)gTc>gCc	p.V562A	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	562					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GTTGACATAGACAAAGAACAT	0.552																																																	0			9											42.0	41.0	42.0					9																	121929963		2203	4300	6503	120969784	SO:0001583	missense	57805			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1685T>C	9.37:g.121929963A>G	ENSP00000265922:p.Val562Ala		120969784	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029009	0.54790	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.18810	2.19	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	L	0.50333	1.59	0.80722	D	1	P	0.49447	0.924	P	0.59424	0.857	T	0.02391	-1.1166	10	0.29301	T	0.29	-29.7714	15.8802	0.79197	1.0:0.0:0.0:0.0	.	562	O60477	DBC1_HUMAN	A	562	ENSP00000265922:V562A	ENSP00000265922:V562A	V	-	2	0	DBC1	120969784	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.243000	0.95416	2.145000	0.66743	0.533000	0.62120	GTC		0.552	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618	
TRAF1	7185	hgsc.bcm.edu	37	9	123667348	123667348	+	Missense_Mutation	SNP	C	C	T	rs371039591		TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr9:123667348C>T	ENST00000373887.3	-	8	3646	c.1201G>A	c.(1201-1203)Gtg>Atg	p.V401M	TRAF1_ENST00000546084.1_Missense_Mutation_p.V279M|TRAF1_ENST00000540010.1_Missense_Mutation_p.V401M	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	401	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						TCGTCCTTCACGTAGGCGTGC	0.587																																																	0			9						C	MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	133.0	85.0	102.0		1201,835,1201	5.6	1.0	9		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TRAF1	NM_001190945.1,NM_001190947.1,NM_005658.4	21,21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	401/417,279/295,401/417	123667348	1,13005	2203	4300	6503	122707169	SO:0001583	missense	7185			AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.1201G>A	9.37:g.123667348C>T	ENSP00000362994:p.Val401Met		122707169	B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	ENST00000373887.3	37	CCDS6825.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645332	0.67358	0.0	1.16E-4	ENSG00000056558	ENST00000373887;ENST00000540010;ENST00000546084	T;T;T	0.49139	0.79;0.79;0.79	5.58	5.58	0.84498	TRAF-type (1);TRAF-like (1);MATH (2);	0.242364	0.35936	N	0.002894	T	0.60431	0.2268	M	0.77712	2.385	0.33206	D	0.552796	D	0.62365	0.991	P	0.53146	0.719	T	0.74213	-0.3738	10	0.66056	D	0.02	-33.7156	12.2726	0.54714	0.0:0.9222:0.0:0.0778	.	401	Q13077	TRAF1_HUMAN	M	401;401;279	ENSP00000362994:V401M;ENSP00000443183:V401M;ENSP00000438583:V279M	ENSP00000362994:V401M	V	-	1	0	TRAF1	122707169	1.000000	0.71417	0.993000	0.49108	0.640000	0.38277	2.373000	0.44266	2.786000	0.95864	0.655000	0.94253	GTG		0.587	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658	
PROSER1	80209	hgsc.bcm.edu	37	13	39587390	39587390	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr13:39587390T>C	ENST00000352251.3	-	11	2832	c.1999A>G	c.(1999-2001)Agt>Ggt	p.S667G	PROSER1_ENST00000350125.3_Missense_Mutation_p.S645G|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	667	Ser-rich.							p.S667G(1)									AAAGGAGTACTCAAGCTGGAG	0.463																																																	1	Substitution - Missense(1)	ovary(1)	13											122.0	114.0	116.0					13																	39587390		2203	4300	6503	38485390	SO:0001583	missense	80209			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1999A>G	13.37:g.39587390T>C	ENSP00000332034:p.Ser667Gly		38485390	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	T	15.91	2.971030	0.53614	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.56611	0.45;0.45	5.27	5.27	0.74061	.	.	.	.	.	T	0.38665	0.1049	L	0.29908	0.895	0.37949	D	0.932604	P;P	0.39480	0.675;0.461	B;B	0.34093	0.175;0.145	T	0.40813	-0.9543	8	.	.	.	-13.1738	14.659	0.68855	0.0:0.0:0.0:1.0	.	645;667	A6NJ97;Q86XN7	.;PRSR1_HUMAN	G	667;645	ENSP00000332034:S667G;ENSP00000339123:S645G	.	S	-	1	0	PROSER1	38485390	0.999000	0.42202	0.856000	0.33681	0.659000	0.38960	3.386000	0.52492	2.116000	0.64780	0.459000	0.35465	AGT		0.463	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138	
RB1	5925	hgsc.bcm.edu	37	13	48881511	48881511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr13:48881511G>A	ENST00000267163.4	+	2	371	c.233G>A	c.(232-234)tGg>tAg	p.W78*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	78					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGGTTAACTTGGGAGAAAGTT	0.328		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	18	Whole gene deletion(15)|Unknown(3)	bone(10)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|eye(1)|soft_tissue(1)|endometrium(1)|stomach(1)	13											134.0	136.0	135.0					13																	48881511		2203	4299	6502	47779512	SO:0001587	stop_gained	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.233G>A	13.37:g.48881511G>A	ENSP00000267163:p.Trp78*		47779512	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	37	5.984466	0.97173	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	4.86	4.86	0.63082	.	0.135639	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2922	13.8493	0.63487	0.0:0.0:1.0:0.0	.	.	.	.	X	57;78	.	ENSP00000267163:W78X	W	+	2	0	RB1	47779512	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.055000	0.49916	2.401000	0.81631	0.650000	0.86243	TGG		0.328	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
UGGT2	55757	hgsc.bcm.edu	37	13	96536927	96536927	+	Missense_Mutation	SNP	G	G	A	rs200610064		TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr13:96536927G>A	ENST00000376747.3	-	27	3116	c.3046C>T	c.(3046-3048)Cgt>Tgt	p.R1016C		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1016					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AGAACAAAACGGTAAAAGCTG	0.328													G|||	1	0.000199681	0.0	0.0	5008	,	,		17544	0.0		0.001	False		,,,				2504	0.0																0			13											56.0	54.0	55.0					13																	96536927		2203	4300	6503	95334928	SO:0001583	missense	0			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3046C>T	13.37:g.96536927G>A	ENSP00000365938:p.Arg1016Cys		95334928	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.4	4.411260	0.83340	.	.	ENSG00000102595	ENST00000376747	T	0.45276	0.9	5.97	5.97	0.96955	.	0.055638	0.85682	D	0.000000	T	0.74099	0.3672	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.80763	-0.1237	10	0.87932	D	0	-13.6687	15.1877	0.73016	0.0:0.0:0.8592:0.1408	.	1016;1016	Q9NV86;Q9NYU1	.;UGGG2_HUMAN	C	1016	ENSP00000365938:R1016C	ENSP00000365938:R1016C	R	-	1	0	UGGT2	95334928	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.217000	0.72218	2.836000	0.97738	0.655000	0.94253	CGT		0.328	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121	
ATP5C1	509	hgsc.bcm.edu	37	10	7844757	7844757	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr10:7844757G>A	ENST00000356708.7	+	8	909	c.830G>A	c.(829-831)cGt>cAt	p.R277H	ATP5C1_ENST00000335698.4_Missense_Mutation_p.R277H|ATP5C1_ENST00000541227.1_Missense_Mutation_p.R230H|ATP5C1_ENST00000493053.1_3'UTR	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	277					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						ACATTCAACCGTACCCGCCAA	0.348																																					Melanoma(143;1012 1820 16249 30920 33158)												0			10											92.0	90.0	91.0					10																	7844757		2203	4300	6503	7884763	SO:0001583	missense	509			D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.830G>A	10.37:g.7844757G>A	ENSP00000349142:p.Arg277His		7884763	A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	37	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635646	0.87760	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.5	5.5	0.81552	ATPase, F1 complex, gamma subunit domain (1);	0.000000	0.85682	D	0.000000	T	0.72187	0.3429	M	0.91354	3.2	0.80722	D	1	P	0.47302	0.893	B	0.39935	0.314	T	0.81289	-0.1000	9	0.87932	D	0	-6.9791	19.3767	0.94512	0.0:0.0:1.0:0.0	.	277	P36542	ATPG_HUMAN	H	277;277;230	.	ENSP00000338568:R277H	R	+	2	0	ATP5C1	7884763	1.000000	0.71417	0.995000	0.50966	0.959000	0.62525	9.681000	0.98653	2.735000	0.93741	0.655000	0.94253	CGT		0.348	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174	
UPF2	26019	hgsc.bcm.edu	37	10	12021100	12021100	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr10:12021100C>T	ENST00000356352.2	-	8	2382	c.1909G>A	c.(1909-1911)Gca>Aca	p.A637T	UPF2_ENST00000397053.2_Missense_Mutation_p.A637T|UPF2_ENST00000357604.5_Missense_Mutation_p.A637T			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	637	MIF4G 2.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.A637S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AGATCCTCTGCTACATCAGAC	0.358																																																	1	Substitution - Missense(1)	central_nervous_system(1)	10											92.0	82.0	85.0					10																	12021100		2203	4300	6503	12061106	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1909G>A	10.37:g.12021100C>T	ENSP00000348708:p.Ala637Thr		12061106	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	34	5.327949	0.95733	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.21361	2.01;2.01;2.01	5.94	5.94	0.96194	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	M	0.61703	1.905	0.80722	D	1	D	0.55800	0.973	D	0.63283	0.913	T	0.04178	-1.0971	10	0.40728	T	0.16	.	20.352	0.98815	0.0:1.0:0.0:0.0	.	637	Q9HAU5	RENT2_HUMAN	T	637	ENSP00000348708:A637T;ENSP00000350221:A637T;ENSP00000380244:A637T	ENSP00000348708:A637T	A	-	1	0	UPF2	12061106	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.803000	0.96430	0.655000	0.94253	GCA		0.358	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1		
MLLT10	8028	hgsc.bcm.edu	37	10	22016857	22016857	+	Splice_Site	SNP	G	G	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr10:22016857G>T	ENST00000307729.7	+	16	2241	c.2063G>T	c.(2062-2064)cGa>cTa	p.R688L	MLLT10_ENST00000377072.3_Splice_Site_p.R704L|MLLT10_ENST00000446906.2_Splice_Site_p.R688L|MLLT10_ENST00000377059.3_Splice_Site_p.R688L			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	688					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTCTCGCCACGGTAAGCGCTA	0.423			T	"""MLL, PICALM, CDK6"""	AL																																			Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	0			10											58.0	55.0	56.0					10																	22016857		2203	4300	6503	22056863	SO:0001630	splice_region_variant	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2063+1G>T	10.37:g.22016857G>T			22056863	B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269744	0.80469	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66	5.82	5.82	0.92795	.	0.061993	0.64402	D	0.000006	D	0.96716	0.8928	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.63880	0.99;0.992;0.993;0.992	P;P;D;P	0.74023	0.839;0.694;0.982;0.694	D	0.96558	0.9413	10	0.62326	D	0.03	.	20.1064	0.97896	0.0:0.0:1.0:0.0	.	383;688;688;704	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	L	704;688;688;523;688;347;346	ENSP00000366272:R704L;ENSP00000401406:R688L;ENSP00000307411:R688L;ENSP00000366258:R688L	ENSP00000307411:R688L	R	+	2	0	MLLT10	22056863	1.000000	0.71417	0.993000	0.49108	0.966000	0.64601	5.817000	0.69229	2.745000	0.94114	0.650000	0.86243	CGA		0.423	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1		Missense_Mutation
PTEN	5728	hgsc.bcm.edu	37	10	89653819	89653819	+	Silent	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr10:89653819A>G	ENST00000371953.3	+	2	1474	c.117A>G	c.(115-117)gcA>gcG	p.A39A		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	39	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.A39fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GATTTCCTGCAGAAAGACTTG	0.294		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	48	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	prostate(14)|central_nervous_system(9)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|soft_tissue(1)|urinary_tract(1)|NS(1)|kidney(1)	10											111.0	111.0	111.0					10																	89653819		2203	4296	6499	89643799	SO:0001819	synonymous_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.117A>G	10.37:g.89653819A>G			89643799	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				0.294	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
GBF1	8729	hgsc.bcm.edu	37	10	104139152	104139152	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr10:104139152C>T	ENST00000369983.3	+	34	4863	c.4603C>T	c.(4603-4605)Cgc>Tgc	p.R1535C		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1535					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGCTGATTCTCGCACCCTCTG	0.597																																																	0			10											58.0	52.0	54.0					10																	104139152		2203	4300	6503	104129142	SO:0001583	missense	80142			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4603C>T	10.37:g.104139152C>T	ENSP00000359000:p.Arg1535Cys		104129142	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772729	0.49680	.	.	ENSG00000107862	ENST00000369983	T	0.10192	2.9	5.03	3.17	0.36434	.	0.171968	0.51477	N	0.000095	T	0.07999	0.0200	N	0.24115	0.695	0.53005	D	0.999961	D;D;B	0.64830	0.994;0.987;0.001	B;B;B	0.44163	0.443;0.361;0.0	T	0.19516	-1.0303	10	0.62326	D	0.03	-3.5028	7.5939	0.28037	0.2941:0.631:0.0:0.0749	.	1531;1531;1535	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	C	1535	ENSP00000359000:R1535C	ENSP00000359000:R1535C	R	+	1	0	GBF1	104129142	0.957000	0.32711	0.989000	0.46669	0.773000	0.43773	2.347000	0.44036	0.697000	0.31718	0.561000	0.74099	CGC		0.597	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1		
ICE1	23379	hgsc.bcm.edu	37	5	5464067	5464067	+	Silent	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr5:5464067A>G	ENST00000296564.7	+	13	4842	c.4620A>G	c.(4618-4620)acA>acG	p.T1540T		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1540					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTGATCACACATATTATAACT	0.363																																																	0			5											45.0	41.0	42.0					5																	5464067		1834	4093	5927	5517067	SO:0001819	synonymous_variant	23379																														ENST00000296564.7:c.4620A>G	5.37:g.5464067A>G			5517067	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	CCDS47187.1																																																																																				0.363	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
CAMK4	814	hgsc.bcm.edu	37	5	110730470	110730470	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr5:110730470A>G	ENST00000282356.4	+	5	847	c.449A>G	c.(448-450)gAg>gGg	p.E150G	CAMK4_ENST00000512453.1_Missense_Mutation_p.E150G	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	150	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> G (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.E150G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CAAATCCTGGAGGCAGTTGCT	0.403																																																	1	Substitution - Missense(1)	lung(1)	5											127.0	127.0	127.0					5																	110730470		2202	4300	6502	110758369	SO:0001583	missense	814			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.449A>G	5.37:g.110730470A>G	ENSP00000282356:p.Glu150Gly		110758369	D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.898550	0.72639	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.67698	-0.28;-0.28	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72961	0.3526	L	0.35593	1.075	0.58432	D	0.999996	D	0.89917	1.0	D	0.77004	0.989	T	0.71738	-0.4502	9	.	.	.	.	14.8633	0.70397	1.0:0.0:0.0:0.0	.	150	Q16566	KCC4_HUMAN	G	150	ENSP00000422634:E150G;ENSP00000282356:E150G	.	E	+	2	0	CAMK4	110758369	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.227000	0.78070	2.165000	0.68154	0.383000	0.25322	GAG		0.403	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744	
APC	324	hgsc.bcm.edu	37	5	112175303	112175303	+	Nonsense_Mutation	SNP	C	C	T	rs121913327		TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr5:112175303C>T	ENST00000457016.1	+	16	4392	c.4012C>T	c.(4012-4014)Cag>Tag	p.Q1338*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.Q1338*|APC_ENST00000508376.2_Nonsense_Mutation_p.Q1338*			P25054	APC_HUMAN	adenomatous polyposis coli	1338	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.Q1338*(30)|p.L1337fs*76(4)|p.?(1)|p.K1192fs*3(1)|p.V1326fs*3(1)|p.S1335fs*70(1)|p.L1337>?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGCAGACTGCAGGGTTCTAG	0.458	Q1338*(SW480_LARGE_INTESTINE)|Q1338*(SW620_LARGE_INTESTINE)	12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	39	Substitution - Nonsense(30)|Deletion - Frameshift(7)|Unknown(1)|Complex(1)	large_intestine(34)|thyroid(1)|biliary_tract(1)|stomach(1)|soft_tissue(1)|skin(1)	5	GRCh37	CM930029	APC	M	rs121913327						57.0	60.0	59.0					5																	112175303		2202	4300	6502	112203202	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4012C>T	5.37:g.112175303C>T	ENSP00000413133:p.Gln1338*		112203202	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	39	7.909540	0.98557	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.03	6.03	0.97812	.	0.226724	0.46145	D	0.000316	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.6325	20.1672	0.98154	0.0:1.0:0.0:0.0	.	.	.	.	X	1338	.	.	Q	+	1	0	APC	112203202	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	4.607000	0.61133	2.861000	0.98227	0.655000	0.94253	CAG		0.458	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
MCC	4163	hgsc.bcm.edu	37	5	112487091	112487091	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr5:112487091T>C	ENST00000302475.4	-	2	649	c.86A>G	c.(85-87)aAg>aGg	p.K29R	MCC_ENST00000515367.2_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.K219R|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	29					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.K29M(1)|p.K219M(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TATATCTCCCTTTAGTGATGC	0.468																																																	2	Substitution - Missense(2)	ovary(2)	5											90.0	81.0	84.0					5																	112487091		2202	4300	6502	112514990	SO:0001583	missense	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.86A>G	5.37:g.112487091T>C	ENSP00000305617:p.Lys29Arg		112514990	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	T	8.353	0.831304	0.16820	.	.	ENSG00000171444	ENST00000302475;ENST00000408903	T;T	0.78595	-1.19;1.32	5.25	4.1	0.47936	.	0.132653	0.52532	N	0.000067	T	0.53254	0.1785	N	0.04203	-0.255	0.36772	D	0.883845	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.11329	0.001;0.006;0.001	T	0.50039	-0.8874	10	0.22109	T	0.4	-38.5269	8.1987	0.31411	0.0:0.1523:0.0:0.8477	.	29;219;29	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	R	29;219	ENSP00000305617:K29R;ENSP00000386227:K219R	ENSP00000305617:K29R	K	-	2	0	MCC	112514990	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	2.637000	0.46553	1.034000	0.39945	0.459000	0.35465	AAG		0.468	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377	
MGAT4B	11282	hgsc.bcm.edu	37	5	179226572	179226572	+	Missense_Mutation	SNP	G	G	T	rs141460358		TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr5:179226572G>T	ENST00000292591.7	-	9	1325	c.975C>A	c.(973-975)gaC>gaA	p.D325E	MGAT4B_ENST00000521305.1_5'Flank|MIR1229_ENST00000408467.1_RNA|MGAT4B_ENST00000337755.5_Missense_Mutation_p.D340E	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	325					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGATGGGCTTGTCCCGGTAGA	0.582																																					GBM(13;414 434 4098 22176 23230)												0			5						G	GLU/ASP,GLU/ASP	0,4406		0,0,2203	102.0	102.0	102.0		975,1020	4.4	1.0	5	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MGAT4B	NM_014275.4,NM_054013.3	45,45	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	325/549,340/564	179226572	1,13005	2203	4300	6503	179159178	SO:0001583	missense	11282			AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.975C>A	5.37:g.179226572G>T	ENSP00000292591:p.Asp325Glu		179159178	A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	ENST00000292591.7	37	CCDS4448.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	13.19|13.19|13.19	2.164392|2.164392|2.164392	0.38217|0.38217|0.38217	0.0|0.0|0.0	1.16E-4|1.16E-4|1.16E-4	ENSG00000161013|ENSG00000161013|ENSG00000161013	ENST00000337755;ENST00000292591;ENST00000523108|ENST00000518778;ENST00000520875;ENST00000518867|ENST00000520969	T;T;T|.|.	0.43688|.|.	0.94;0.94;0.94|.|.	4.37|4.37|4.37	4.37|4.37|4.37	0.52481|0.52481|0.52481	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.47838|0.47838|0.47838	0.1467|0.1467|0.1467	N|N|N	0.12527|0.12527|0.12527	0.23|0.23|0.23	0.80722|0.80722|0.80722	D|D|D	1|1|1	P;P;D|.|.	0.61697|.|.	0.788;0.767;0.99|.|.	P;B;D|.|.	0.75484|.|.	0.548;0.394;0.986|.|.	T|T|T	0.44112|0.44112|0.44112	-0.9349|-0.9349|-0.9349	10|5|5	0.23891|.|.	T|.|.	0.37|.|.	-41.3493|-41.3493|-41.3493	17.1369|17.1369|17.1369	0.86743|0.86743|0.86743	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	325;340;325|.|.	Q9UQ53;A8MPR0;Q9UQ53-2|.|.	MGT4B_HUMAN;.;.|.|.	E|K|K	340;325;180|151;124;137|22	ENSP00000338487:D340E;ENSP00000292591:D325E;ENSP00000427995:D180E|.|.	ENSP00000292591:D325E|.|.	D|Q|T	-|-|-	3|1|2	2|0|0	MGAT4B|MGAT4B|MGAT4B	179159178|179159178|179159178	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	3.612000|3.612000|3.612000	0.54142|0.54142|0.54142	2.269000|2.269000|2.269000	0.75478|0.75478|0.75478	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAC|CAA|ACA		0.582	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	NM_014275	
ROS1	6098	hgsc.bcm.edu	37	6	117665427	117665427	+	Splice_Site	SNP	T	T	C			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr6:117665427T>C	ENST00000368508.3	-	27	4520		c.e27-2		ROS1_ENST00000368507.3_Splice_Site|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase						cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.?(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACGCTTTATCTAAAATAAGAA	0.323			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	1	Unknown(1)	central_nervous_system(1)	6											109.0	108.0	108.0					6																	117665427		2203	4300	6503	117772120	SO:0001630	splice_region_variant	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4322-2A>G	6.37:g.117665427T>C			117772120	Q15368|Q5TDB5	Splice_Site	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.020239	0.35606	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.16	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6017	0.33749	0.1712:0.0:0.0:0.8288	.	.	.	.	.	-1	.	.	.	-	.	.	ROS1	117772120	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	3.397000	0.52572	2.077000	0.62373	0.459000	0.35465	.		0.323	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		Intron
CHD9	80205	hgsc.bcm.edu	37	16	53301838	53301838	+	Splice_Site	SNP	G	G	T			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr16:53301838G>T	ENST00000398510.3	+	21	4604		c.e21-1		CHD9_ENST00000564845.1_Splice_Site|CHD9_ENST00000447540.1_Splice_Site|CHD9_ENST00000566029.1_Splice_Site			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9						cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTTTTAACCAGGTGGGGCCGA	0.348																																																	0			16											74.0	68.0	70.0					16																	53301838		1812	4067	5879	51859339	SO:0001630	splice_region_variant	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4518-1G>T	16.37:g.53301838G>T			51859339	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Splice_Site	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	G	24.9	4.580582	0.86645	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7167	0.96124	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHD9	51859339	1.000000	0.71417	0.989000	0.46669	0.902000	0.53008	9.807000	0.99171	2.673000	0.90976	0.650000	0.86243	.		0.348	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	Intron
COL6A5	256076	hgsc.bcm.edu	37	3	130110080	130110080	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr3:130110080delA	ENST00000432398.2	+	7	2969	c.2475delA	c.(2473-2475)atafs	p.I825fs	COL6A5_ENST00000265379.6_Frame_Shift_Del_p.I825fs	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	825	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CAGGTAGCATAAAAAAACAAT	0.388																																																	0			3											99.0	78.0	84.0					3																	130110080		692	1591	2283	131592770	SO:0001589	frameshift_variant	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2475delA	3.37:g.130110080delA	ENSP00000390895:p.Ile825fs		131592770	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Frame_Shift_Del	DEL	ENST00000432398.2	37																																																																																					0.388	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
MUC4	4585	hgsc.bcm.edu	37	3	195505908	195505955	+	In_Frame_Del	DEL	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	-	rs573106893|rs374377441|rs201002111|rs558861219|rs574445078|rs577069816|rs201499581|rs55789594|rs543820459|rs200786826|rs377017763|rs199963450	byFrequency	TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr3:195505908_195505955delGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	ENST00000463781.3	-	2	12955_13002	c.12496_12543delGCTTCCTCAGTGTCCACAGGTCACGGCACCCCTCTTCCTGTCACCAGC	c.(12496-12543)gcttcctcagtgtccacaggtcacggcacccctcttcctgtcaccagcdel	p.ASSVSTGHGTPLPVTS4166del	MUC4_ENST00000475231.1_In_Frame_Del_p.ASSVSTGHGTPLPVTS4166del|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A4166_S4181delASSVSTGHGTPLPVTS(2)|p.V4169V(1)|p.A4166T(1)|p.V4169A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACA	0.585																																																	5	Substitution - Missense(2)|Deletion - In frame(2)|Substitution - coding silent(1)	stomach(4)|upper_aerodigestive_tract(1)	3							,,	336,2928		86,164,1382					,,		0.0			13	856,5568		218,420,2574	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	304,584,3956	A1A1,A1R,RR		13.325,10.2941,12.3039	,,	,,		1192,8496				196990734	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12496_12543delGCTTCCTCAGTGTCCACAGGTCACGGCACCCCTCTTCCTGTCACCAGC	3.37:g.195505908_195505955delGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	ENSP00000417498:p.Ala4166_Ser4181del		196990687	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.585	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
FNDC1	84624	hgsc.bcm.edu	37	6	159660780	159660797	+	In_Frame_Del	DEL	CCACCACCCGCCGCACGA	CCACCACCCGCCGCACGA	-	rs3842694|rs371460598|rs369235569|rs376636754|rs398066440|rs141435210	byFrequency	TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	CCACCACCCGCCGCACGA	CCACCACCCGCCGCACGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr6:159660780_159660797delCCACCACCCGCCGCACGA	ENST00000297267.9	+	14	4612_4629	c.4412_4429delCCACCACCCGCCGCACGA	c.(4411-4431)gccaccacccgccgcacgacc>gcc	p.TTRRTT1478del	FNDC1-IT1_ENST00000419703.1_RNA|FNDC1_ENST00000340366.6_In_Frame_Del_p.TTRRTT1415del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1478	Thr-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1474_T1479delRRTTTT(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		cccaccactgccaccacccgccgcacgaccaccacccg	0.642														2486	0.496406	0.4705	0.5144	5008	,	,		12840	0.4058		0.5567	False		,,,				2504	0.5501																1	Deletion - In frame(1)	autonomic_ganglia(1)	6								1605,785		657,291,247						-2.9	0.1		dbSNP_130	68	4421,657		2051,319,169	no	coding	FNDC1	NM_032532.2		2708,610,416	A1A1,A1R,RR		12.9382,32.8452,19.3091				6026,1442				159580787	SO:0001651	inframe_deletion	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4412_4429delCCACCACCCGCCGCACGA	6.37:g.159660780_159660797delCCACCACCCGCCGCACGA	ENSP00000297267:p.Thr1478_Thr1483del		159580770	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	In_Frame_Del	DEL	ENST00000297267.9	37	CCDS47512.1																																																																																				0.642	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
RTKN2	219790	hgsc.bcm.edu	37	10	63976913	63976918	+	In_Frame_Del	DEL	AGCTTC	AGCTTC	-	rs115357868|rs201442319|rs149331212|rs59044276|rs76810894	byFrequency	TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	AGCTTC	AGCTTC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr10:63976913_63976918delAGCTTC	ENST00000373789.3	-	9	1075_1080	c.979_984delGAAGCT	c.(979-984)gaagctdel	p.EA327del	RTKN2_ENST00000315289.2_In_Frame_Del_p.EA108del|RTKN2_ENST00000395265.1_In_Frame_Del_p.EA327del	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	327	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTTCCACTTTAGCTTCAATTTCCTCT	0.354														704	0.140575	0.295	0.1066	5008	,	,		17288	0.005		0.16	False		,,,				2504	0.0757																0			10								1087,3173		162,763,1205						6.0	1.0		dbSNP_129	131	1232,7022		103,1026,2998	no	coding	RTKN2	NM_145307.2		265,1789,4203	A1A1,A1R,RR		14.9261,25.5164,18.5312				2319,10195				63646924	SO:0001651	inframe_deletion	219790			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.979_984delGAAGCT	10.37:g.63976913_63976918delAGCTTC	ENSP00000362894:p.Glu327_Ala328del		63646919	Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	In_Frame_Del	DEL	ENST00000373789.3	37	CCDS7263.1																																																																																				0.354	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307	
REEP3	221035	hgsc.bcm.edu	37	10	65357872	65357872	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr10:65357872delT	ENST00000373758.4	+	4	454	c.271delT	c.(271-273)ttcfs	p.F91fs	REEP3_ENST00000298249.4_Frame_Shift_Del_p.F76fs	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	91					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATATAGAAAATTCCTTCATCC	0.363																																																	0			10											51.0	49.0	50.0					10																	65357872		1791	4073	5864	65027878	SO:0001589	frameshift_variant	221035			BC057832	CCDS44411.1	10q21.3	2011-01-05	2006-02-07	2006-02-07	ENSG00000165476	ENSG00000165476		"""Receptor accessory proteins"""	23711	protein-coding gene	gene with protein product		609348	"""chromosome 10 open reading frame 74"""	C10orf74		16271481, 15550249	Standard	NM_001001330		Approved		uc001jmt.3	Q6NUK4	OTTHUMG00000018318	ENST00000373758.4:c.271delT	10.37:g.65357872delT	ENSP00000362863:p.Phe91fs		65027878	Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4	Frame_Shift_Del	DEL	ENST00000373758.4	37	CCDS44411.1																																																																																				0.363	REEP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001001330	
MUC2	4583	hgsc.bcm.edu	37	11	1092816	1092818	+	In_Frame_Del	DEL	GGT	GGT	-	rs540845725	byFrequency	TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	GGT	GGT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr11:1092816_1092818delGGT	ENST00000441003.2	+	30	4662_4664	c.4635_4637delGGT	c.(4633-4638)acggtg>acg	p.V1546del	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_In_Frame_Del_p.V1547del	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccaccaccacGGTGACCCCAACC	0.635																																																	0			11																																								1082818	SO:0001651	inframe_deletion	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4635_4637delGGT	11.37:g.1092816_1092818delGGT	ENSP00000415183:p.Val1546del		1082816	Q14878	In_Frame_Del	DEL	ENST00000441003.2	37																																																																																					0.635	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
WNK1	65125	hgsc.bcm.edu	37	12	970297	970297	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr12:970297delA	ENST00000315939.6	+	7	2382	c.1739delA	c.(1738-1740)gaafs	p.E580fs	WNK1_ENST00000530271.2_Frame_Shift_Del_p.E580fs|WNK1_ENST00000535572.1_Frame_Shift_Del_p.E580fs|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000537687.1_Frame_Shift_Del_p.E580fs|WNK1_ENST00000340908.4_Frame_Shift_Del_p.E173fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	580					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GAGGAGCAAGAAAAAAAAAAG	0.468																																					Colon(19;451 567 6672 12618 28860)												1	Unknown(1)	skin(1)	12											98.0	96.0	97.0					12																	970297		2203	4300	6503	840558	SO:0001589	frameshift_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1739delA	12.37:g.970297delA	ENSP00000313059:p.Glu580fs		840558	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Frame_Shift_Del	DEL	ENST00000315939.6	37	CCDS8506.1																																																																																				0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979	
NACA	4666	hgsc.bcm.edu	37	12	57111520	57111588	+	In_Frame_Del	DEL	GTGGGGGCCCCTTTGGGGGGTGGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTT	GTGGGGGCCCCTTTGGGGGGTGGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTT	-	rs200567357|rs200125059|rs546033694|rs200929777|rs201766056|rs201949086|rs200070725|rs368778367|rs201249962	byFrequency	TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	GTGGGGGCCCCTTTGGGGGGTGGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTT	GTGGGGGCCCCTTTGGGGGGTGGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr12:57111520_57111588delGTGGGGGCCCCTTTGGGGGGTGGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTT	ENST00000454682.1	-	3	4007_4075	c.3726_3794delAACCCCAGCTGCAACTCCTCCCTCCCCAAAAGGAGGCCCAGCTACCCCACCCCCCAAAGGGGCCCCCAC	c.(3724-3795)acaaccccagctgcaactcctccctccccaaaaggaggcccagctaccccaccccccaaaggggcccccact>act	p.1242_1265TTPAATPPSPKGGPATPPPKGAPT>T	NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1242	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGCTGGGGGAGTGGGGGCCCCTTTGGGGGGTGGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTTGTGGGGGCCC	0.639			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0			12							,,,	330,1842		66,198,822					,,,	-6.7	0.0			53	175,4659		36,103,2278	no	intron,intron,intron,intron	NACA	NM_005594.4,NM_001113203.2,NM_001113202.1,NM_001113201.1	,,,	102,301,3100	A1A1,A1R,RR		3.6202,15.1934,7.2081	,,,	,,,		505,6501				55397855	SO:0001651	inframe_deletion	4666			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3726_3794delAACCCCAGCTGCAACTCCTCCCTCCCCAAAAGGAGGCCCAGCTACCCCACCCCCCAAAGGGGCCCCCAC	12.37:g.57111520_57111588delGTGGGGGCCCCTTTGGGGGGTGGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTT	ENSP00000403817:p.Thr1242_Pro1264del		55397787		In_Frame_Del	DEL	ENST00000454682.1	37																																																																																					0.639	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594	
ATXN3	4287	hgsc.bcm.edu	37	14	92537354	92537356	+	In_Frame_Del	DEL	CCT	CCT	-	rs12895357	byFrequency	TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	CCT	CCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr14:92537354_92537356delCCT	ENST00000532032.1	-	10	923_925	c.914_916delAGG	c.(913-918)cagggg>cgg	p.305_306QG>R	ATXN3_ENST00000393287.5_In_Frame_Del_p.305_306QG>R|ATXN3_ENST00000429774.2_In_Frame_Del_p.298_299QG>R|ATXN3_ENST00000545170.1_In_Frame_Del_p.314_315QG>R|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000503767.1_In_Frame_Del_p.290_291QG>R|ATXN3_ENST00000340660.6_In_Frame_Del_p.250_251QG>R|ATXN3_ENST00000502250.1_In_Frame_Del_p.126_127QG>R			P54252	ATX3_HUMAN	ataxin 3	305	Poly-Gln.		G -> QQQQQQQQQQQQR. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7874163, ECO:0000269|PubMed:9274833}.		actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G306R(1)		endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		GATAGGTCCCCctgctgctgctg	0.448																																					Esophageal Squamous(190;752 2094 29897 44875 49530)												1	Substitution - Missense(1)	lung(1)	14																																								91607109	SO:0001651	inframe_deletion	4287			U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.914_916delAGG	14.37:g.92537354_92537356delCCT	ENSP00000437157:p.Gln305_Gly306delinsArg		91607107	A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	In_Frame_Del	DEL	ENST00000532032.1	37																																																																																					0.448	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993	
KRTAP4-3	85290	hgsc.bcm.edu	37	17	39324229	39324230	+	In_Frame_Ins	INS	-	-	GCAGCAGGTGGTCAG	rs58564583|rs369617852	byFrequency	TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr17:39324229_39324230insGCAGCAGGTGGTCAG	ENST00000391356.2	-	1	194_195	c.195_196insCTGACCACCTGCTGC	c.(193-198)tgcagg>tgcCTGACCACCTGCTGCagg	p.64_65insCLTTC		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	64	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].		C -> CCCLTTCCRTTCCRPSCCISSCCRPSCCISSCCKPS (in allele KAP3-v1).		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			caggtggtcctgcagcagctgg	0.629																																																	0			17								169,589,1746		24,2,119,170,247,690						-9.3	0.0		dbSNP_134	4	951,38,4927		39,1,872,6,25,2015	no	codingComplex	KRTAP4-3	NM_033187.1		63,3,991,176,272,2705	A1A1,A1A2,A1R,A2A2,A2R,RR		16.7174,30.2716,20.7482				1120,627,6673				36577756	SO:0001652	inframe_insertion	85290			AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"""Keratin associated proteins"""	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.195_196insCTGACCACCTGCTGC	17.37:g.39324229_39324230insGCAGCAGGTGGTCAG	ENSP00000375151:p.Cys64_Cys65insCysLeuThrThrCys		36577755		In_Frame_Ins	INS	ENST00000391356.2	37	CCDS42331.1																																																																																				0.629	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1		
DEFB126	81623	hgsc.bcm.edu	37	20	126311	126312	+	Frame_Shift_Del	DEL	CC	CC	-	rs376364807|rs11467417|rs386393058		TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	CC	CC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chr20:126311_126312delCC	ENST00000382398.3	+	2	574_575	c.314_315delCC	c.(313-315)accfs	p.T105fs	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	105					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ATGGCTCCTACCCCCGTTTCTC	0.455																																																	0			20								2386,1878		678,1030,424						-4.7	0.0		dbSNP_120	113	4702,3552		1341,2020,766	no	frameshift	DEFB126	NM_030931.2		2019,3050,1190	A1A1,A1R,RR		43.0337,44.0432,43.3775				7088,5430				74312	SO:0001589	frameshift_variant	81623				CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"""Defensins, beta"""	15900	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 8"""	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.314_315delCC	20.37:g.126313_126314delCC	ENSP00000371835:p.Thr105fs		74311	Q562G3|Q9H1M5	Frame_Shift_Del	DEL	ENST00000382398.3	37	CCDS12990.1																																																																																				0.455	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931	
SLITRK2	84631	hgsc.bcm.edu	37	X	144904649	144904655	+	Frame_Shift_Del	DEL	GTTTTTG	GTTTTTG	-			TCGA-F5-6812-01A-11D-1826-10	TCGA-F5-6812-10A-01D-1826-10	GTTTTTG	GTTTTTG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	5e34fd1b-3d8a-4c61-afaf-3889c5004655	480fe73e-fe48-4e8d-81f2-b557b2373278	g.chrX:144904649_144904655delGTTTTTG	ENST00000370490.1	+	1	4961_4967	c.706_712delGTTTTTG	c.(706-714)gtttttgtgfs	p.VFV236fs	SLITRK2_ENST00000428560.2_Frame_Shift_Del_p.VFV236fs|SLITRK2_ENST00000413937.2_Frame_Shift_Del_p.VFV236fs|SLITRK2_ENST00000447897.2_Frame_Shift_Del_p.VFV236fs|SLITRK2_ENST00000434188.2_Frame_Shift_Del_p.VFV236fs			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	236	LRRCT 1.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.F237C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CACCATAACTGTTTTTGTGGGAGAGAT	0.478																																																	1	Substitution - Missense(1)	large_intestine(1)	X																																								144712347	SO:0001589	frameshift_variant	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.706_712delGTTTTTG	X.37:g.144904649_144904655delGTTTTTG	ENSP00000359521:p.Val236fs		144712341	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Frame_Shift_Del	DEL	ENST00000370490.1	37	CCDS14680.1																																																																																				0.478	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
