#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_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
EVPL	2125	hgsc.bcm.edu	37	17	74003677	74003678	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr17:74003677_74003678insCC	ENST00000301607.3	-	22	5861_5862	c.5608_5609insGG	c.(5608-5610)gacfs	p.D1870fs	EVPL_ENST00000586740.1_Frame_Shift_Ins_p.D1892fs|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1870	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.D1870fs*19(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCTGAGCAGGTCCACGATGCCC	0.619																																																1	Insertion - Frameshift(1)	ovary(1)	17																																								71515273	SO:0001589	frameshift_variant	2125			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5607_5608dupGG	17.37:g.74003678_74003679dupCC	ENSP00000301607:p.Asp1870fs		71515272	A0AUV5	Frame_Shift_Ins	INS	ENST00000301607.3	37	CCDS11737.1																																																																																				0.619	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	
HEATR1	55127	hgsc.bcm.edu	37	1	236751309	236751309	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr1:236751309A>T	ENST00000366582.3	-	13	1679	c.1565T>A	c.(1564-1566)gTt>gAt	p.V522D	HEATR1_ENST00000366581.2_Missense_Mutation_p.V522D	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	522					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.V522D(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCGGGCTAAAACAGCTTCTTT	0.338																																																1	Substitution - Missense(1)	ovary(1)	1											117.0	110.0	113.0					1																	236751309		2203	4300	6503	234817932	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1565T>A	1.37:g.236751309A>T	ENSP00000355541:p.Val522Asp		234817932	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.520362	0.85495	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66995	-0.24;-0.23	5.8	5.8	0.92144	Armadillo-like helical (1);Armadillo-type fold (1);	0.626741	0.16146	N	0.227477	T	0.73055	0.3538	L	0.40543	1.245	0.80722	D	1	P	0.43633	0.813	P	0.54856	0.762	T	0.74290	-0.3713	10	0.87932	D	0	.	15.8875	0.79261	1.0:0.0:0.0:0.0	.	522	Q9H583	HEAT1_HUMAN	D	522	ENSP00000355541:V522D;ENSP00000355540:V522D	ENSP00000355540:V522D	V	-	2	0	HEATR1	234817932	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.161000	0.77505	2.225000	0.72522	0.529000	0.55759	GTT		0.338	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	
MTDH	92140	hgsc.bcm.edu	37	8	98731334	98731334	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr8:98731334A>G	ENST00000336273.3	+	10	1766	c.1438A>G	c.(1438-1440)Acc>Gcc	p.T480A	MTDH_ENST00000519934.1_Missense_Mutation_p.T424A	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	480					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)	p.T480A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TACCTCTAAAACCCGTCCAAA	0.338																																																1	Substitution - Missense(1)	ovary(1)	8											80.0	87.0	84.0					8																	98731334		2203	4300	6503	98800510	SO:0001583	missense	92140			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1438A>G	8.37:g.98731334A>G	ENSP00000338235:p.Thr480Ala		98800510	Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	A	3.764	-0.049007	0.07407	.	.	ENSG00000147649	ENST00000336273;ENST00000519934	T;T	0.39592	1.07;1.08	5.97	2.08	0.27032	.	0.923761	0.09271	N	0.825088	T	0.12860	0.0312	N	0.00841	-1.15	0.22701	N	0.998838	B	0.02656	0.0	B	0.01281	0.0	T	0.31336	-0.9947	10	0.11182	T	0.66	0.9509	5.7095	0.17927	0.144:0.0:0.5797:0.2762	.	480	Q86UE4	LYRIC_HUMAN	A	480;424	ENSP00000338235:T480A;ENSP00000428168:T424A	ENSP00000338235:T480A	T	+	1	0	MTDH	98800510	0.999000	0.42202	0.989000	0.46669	0.970000	0.65996	1.239000	0.32719	0.094000	0.17404	-0.242000	0.12053	ACC		0.338	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2		
PRKD3	23683	hgsc.bcm.edu	37	2	37481412	37481412	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr2:37481412G>T	ENST00000379066.1	-	18	3196	c.2434C>A	c.(2434-2436)Ctg>Atg	p.L812M	PRKD3_ENST00000234179.2_Missense_Mutation_p.L812M			O94806	KPCD3_HUMAN	protein kinase D3	812	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.L812M(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ACTTGAAGCAGATTGTTTATC	0.393																																					Melanoma(80;621 1355 8613 11814 51767)											2	Substitution - Missense(2)	ovary(2)	2											112.0	110.0	111.0					2																	37481412		2203	4300	6503	37334916	SO:0001583	missense	23683			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.2434C>A	2.37:g.37481412G>T	ENSP00000368356:p.Leu812Met		37334916	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646400	0.67358	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.42900	0.96;0.96	5.75	0.166	0.14999	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	0.56097	D	0.000021	T	0.37210	0.0995	N	0.11341	0.13	0.53688	D	0.999977	D	0.65815	0.995	D	0.66716	0.946	T	0.17561	-1.0365	10	0.49607	T	0.09	-8.0257	8.8309	0.35082	0.5895:0.0:0.4105:0.0	.	812	O94806	KPCD3_HUMAN	M	812	ENSP00000368356:L812M;ENSP00000234179:L812M	ENSP00000234179:L812M	L	-	1	2	PRKD3	37334916	1.000000	0.71417	0.509000	0.27700	0.934000	0.57294	2.540000	0.45727	0.078000	0.16900	0.655000	0.94253	CTG		0.393	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813	
S100A10	6281	hgsc.bcm.edu	37	1	151955649	151955649	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr1:151955649C>T	ENST00000368811.3	-	3	943	c.284G>A	c.(283-285)gGa>gAa	p.G95E	S100A10_ENST00000478574.1_5'Flank|S100A10_ENST00000368809.1_Missense_Mutation_p.G95E	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10	95					cellular response to acid chemical (GO:0071229)|establishment of protein localization to plasma membrane (GO:0090002)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|positive regulation of binding (GO:0051099)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein heterotetramerization (GO:0051290)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)	p.G95V(1)|p.G95E(1)		breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTACTTCTTTCCCTTCTGCTT	0.483																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)	1											195.0	203.0	200.0					1																	151955649		2203	4300	6503	150222273	SO:0001583	missense	6281			BC015973	CCDS1008.1	1q21	2012-04-04	2006-09-11		ENSG00000197747	ENSG00000197747		"""S100 calcium binding proteins"""	10487	protein-coding gene	gene with protein product	"""annexin II tetramer (AIIt) p11 subunit"""	114085	"""S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"", ""S100 calcium binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"""	ANX2LG, CAL1L		8276421	Standard	NM_002966		Approved	P11, 42C, CLP11	uc001ezl.3	P60903	OTTHUMG00000013068	ENST00000368811.3:c.284G>A	1.37:g.151955649C>T	ENSP00000357801:p.Gly95Glu		150222273	A8K4V8|P08206|Q5T1C5	Missense_Mutation	SNP	ENST00000368811.3	37	CCDS1008.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138505	0.56936	.	.	ENSG00000197747	ENST00000368811;ENST00000368809	T;T	0.05513	3.43;3.43	5.56	5.56	0.83823	.	0.422619	0.25720	N	0.028742	T	0.02888	0.0086	.	.	.	0.42141	D	0.991518	B	0.11235	0.004	B	0.12837	0.008	T	0.23655	-1.0182	9	0.72032	D	0.01	.	10.2653	0.43452	0.0:0.913:0.0:0.087	.	95	P60903	S10AA_HUMAN	E	95	ENSP00000357801:G95E;ENSP00000357799:G95E	ENSP00000357799:G95E	G	-	2	0	S100A10	150222273	0.375000	0.25089	0.984000	0.44739	0.982000	0.71751	2.801000	0.47908	2.890000	0.99128	0.655000	0.94253	GGA		0.483	S100A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036673.1	NM_002966	
ZC3HAV1	56829	hgsc.bcm.edu	37	7	138732462	138732462	+	Nonsense_Mutation	SNP	G	G	A			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_III	WXS	none			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr7:138732462G>A	ENST00000242351.5	-	13	2903	c.2587C>T	c.(2587-2589)Cag>Tag	p.Q863*	ZC3HAV1_ENST00000464606.1_Nonsense_Mutation_p.Q985*	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	863	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.Q863*(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CTGTCGAACTGTGGAGGAGGG	0.418																																																1	Substitution - Nonsense(1)	ovary(1)	7											154.0	150.0	151.0					7																	138732462		2203	4300	6503	138383002	SO:0001587	stop_gained	56829			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2587C>T	7.37:g.138732462G>A	ENSP00000242351:p.Gln863*		138383002	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Nonsense_Mutation	SNP	ENST00000242351.5	37	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	G	34	5.346513	0.95807	.	.	ENSG00000105939	ENST00000242351;ENST00000464606	.	.	.	5.23	-1.41	0.08941	.	2.744490	0.01433	N	0.014821	.	.	.	.	.	.	0.20074	N	0.999933	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.2365	0.01954	0.1562:0.2436:0.2271:0.3732	.	.	.	.	X	863;985	.	ENSP00000242351:Q863X	Q	-	1	0	ZC3HAV1	138383002	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.849000	0.27723	0.039000	0.15632	-0.315000	0.08773	CAG		0.418	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119	
ABCG8	64241	hgsc.bcm.edu	37	2	44073368	44073368	+	Silent	SNP	C	C	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr2:44073368C>T	ENST00000272286.2	+	3	330	c.240C>T	c.(238-240)tgC>tgT	p.C80C		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	80	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.C80C(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTCCCAGCTGCCAGAATTCTT	0.542																																																1	Substitution - coding silent(1)	ovary(1)	2											63.0	61.0	62.0					2																	44073368		2203	4300	6503	43926872	SO:0001819	synonymous_variant	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.240C>T	2.37:g.44073368C>T			43926872	Q53QN8	Silent	SNP	ENST00000272286.2	37	CCDS1815.1																																																																																				0.542	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437	
CCDC178	374864	hgsc.bcm.edu	37	18	30903493	30903493	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr18:30903493C>A	ENST00000383096.3	-	11	1166	c.984G>T	c.(982-984)aaG>aaT	p.K328N	CCDC178_ENST00000583930.1_Missense_Mutation_p.K328N|CCDC178_ENST00000579947.1_Missense_Mutation_p.K328N|CCDC178_ENST00000403303.1_Missense_Mutation_p.K328N|CCDC178_ENST00000402325.1_Missense_Mutation_p.K328N|CCDC178_ENST00000406524.2_Missense_Mutation_p.K328N|CCDC178_ENST00000300227.8_Missense_Mutation_p.K328N|CCDC178_ENST00000579916.1_Intron			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	328								p.K328N(1)									GGTAAATATCCTTATCAATCT	0.318																																																1	Substitution - Missense(1)	ovary(1)	18											60.0	58.0	58.0					18																	30903493		2202	4295	6497	29157491	SO:0001583	missense	374864			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.984G>T	18.37:g.30903493C>A	ENSP00000372576:p.Lys328Asn		29157491	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	7.715	0.696020	0.15106	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	4.52	-7.15	0.01521	.	.	.	.	.	T	0.23451	0.0567	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.24258	0.1;0.1;0.1;0.1	B;B;B;B	0.23419	0.046;0.046;0.046;0.046	T	0.27400	-1.0075	9	0.27082	T	0.32	-8.9701	5.8615	0.18749	0.2727:0.4803:0.0:0.247	.	328;328;328;328	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	N	328	ENSP00000385591:K328N;ENSP00000372576:K328N;ENSP00000300227:K328N;ENSP00000385867:K328N;ENSP00000385234:K328N	ENSP00000300227:K328N	K	-	3	2	C18orf34	29157491	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.360000	0.02600	-1.015000	0.03375	-0.295000	0.09555	AAG		0.318	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	
CACNA1D	776	hgsc.bcm.edu	37	3	53810044	53810044	+	Missense_Mutation	SNP	T	T	G			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr3:53810044T>G	ENST00000350061.5	+	35	4845	c.4334T>G	c.(4333-4335)aTc>aGc	p.I1445S	CACNA1D_ENST00000540742.1_Missense_Mutation_p.I337S|CACNA1D_ENST00000288139.4_Missense_Mutation_p.I1465S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1430S	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1445	Dihydropyridine binding. {ECO:0000250}.|Phenylalkylamine binding. {ECO:0000250}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.I1465S(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTCTATTTCATCAGTTTTTAC	0.483																																																1	Substitution - Missense(1)	ovary(1)	3											155.0	161.0	159.0					3																	53810044		2203	4300	6503	53785084	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4334T>G	3.37:g.53810044T>G	ENSP00000288133:p.Ile1445Ser		53785084	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.528849	0.64860	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.98835	-5.17;-5.17;-5.17;-5.17;-5.17	5.58	5.58	0.84498	Ion transport (1);	0.069247	0.56097	D	0.000035	D	0.99149	0.9706	M	0.85462	2.755	0.80722	D	1	D;B;P;P;P	0.89917	1.0;0.058;0.849;0.789;0.749	D;B;P;P;P	0.97110	1.0;0.087;0.704;0.643;0.862	D	0.99568	1.0970	10	0.66056	D	0.02	.	15.749	0.77969	0.0:0.0:0.0:1.0	.	1430;337;1138;1445;1465	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	S	1445;1465;1430;1138;337	ENSP00000288133:I1445S;ENSP00000288139:I1465S;ENSP00000409174:I1430S;ENSP00000418014:I1138S;ENSP00000438229:I337S	ENSP00000288139:I1465S	I	+	2	0	CACNA1D	53785084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.120000	0.65058	0.528000	0.53228	ATC		0.483	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
CYP1A2	1544	hgsc.bcm.edu	37	15	75042235	75042235	+	Silent	SNP	G	G	A			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr15:75042235G>A	ENST00000343932.4	+	2	219	c.156G>A	c.(154-156)ggG>ggA	p.G52G		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	52					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.G52G(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	CCTTGCTCGGGCATGTGCTGA	0.632																																																1	Substitution - coding silent(1)	ovary(1)	15											75.0	76.0	76.0					15																	75042235		2197	4296	6493	72829288	SO:0001819	synonymous_variant	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.156G>A	15.37:g.75042235G>A			72829288	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	CCDS32293.1																																																																																				0.632	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761	
EPB41L5	57669	hgsc.bcm.edu	37	2	120776784	120776784	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr2:120776784A>G	ENST00000263713.5	+	2	338	c.124A>G	c.(124-126)Atc>Gtc	p.I42V	EPB41L5_ENST00000443124.1_Missense_Mutation_p.I42V|EPB41L5_ENST00000452780.1_Missense_Mutation_p.I42V|EPB41L5_ENST00000331393.4_Missense_Mutation_p.I42V|EPB41L5_ENST00000443902.2_Missense_Mutation_p.I42V	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	42					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)		p.I42V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TTCTAAGTCCATCATCACGTG	0.507																																																1	Substitution - Missense(1)	ovary(1)	2											279.0	270.0	273.0					2																	120776784		2203	4300	6503	120493254	SO:0001583	missense	57669			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.124A>G	2.37:g.120776784A>G	ENSP00000263713:p.Ile42Val		120493254	Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	A	8.898	0.955562	0.18507	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.13	-7.33	0.01431	Band 4.1 domain (1);	0.626362	0.14054	N	0.344551	T	0.47154	0.1430	N	0.08118	0	0.39683	D	0.970935	B;B;B	0.15473	0.013;0.0;0.008	B;B;B	0.21360	0.034;0.001;0.015	T	0.44498	-0.9324	10	0.05525	T	0.97	.	17.4089	0.87480	0.4123:0.0:0.5877:0.0	.	42;42;42	Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;E41L5_HUMAN	V	42	ENSP00000263713:I42V;ENSP00000393856:I42V;ENSP00000329687:I42V;ENSP00000393722:I42V;ENSP00000390439:I42V	ENSP00000263713:I42V	I	+	1	0	EPB41L5	120493254	0.036000	0.19791	0.051000	0.19133	0.978000	0.69477	0.255000	0.18333	-1.395000	0.02074	-0.250000	0.11733	ATC		0.507	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909	
GTF2H4	2968	hgsc.bcm.edu	37	6	30879920	30879920	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr6:30879920A>G	ENST00000259895.4	+	10	1178	c.955A>G	c.(955-957)Acg>Gcg	p.T319A	GTF2H4_ENST00000376316.2_Missense_Mutation_p.T319A|VARS2_ENST00000416670.2_5'Flank|VARS2_ENST00000541562.1_5'Flank|VARS2_ENST00000542001.1_5'Flank|VARS2_ENST00000321897.5_5'Flank	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	319					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T319A(1)		breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						GTATGCCTACACGGGTGAGGC	0.557								Nucleotide excision repair (NER)																																								1	Substitution - Missense(1)	ovary(1)	6											51.0	51.0	51.0					6																	30879920		1509	2707	4216	30987899	SO:0001583	missense	2968			Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4658	protein-coding gene	gene with protein product		601760	"""general transcription factor IIH, polypeptide 4 (52kD subunit)"""			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.955A>G	6.37:g.30879920A>G	ENSP00000259895:p.Thr319Ala		30987899	B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	37	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.481497	0.63849	.	.	ENSG00000213780	ENST00000259895;ENST00000376316	T;T	0.54675	0.56;0.56	5.29	5.29	0.74685	.	0.000000	0.64402	U	0.000001	T	0.74261	0.3693	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82065	-0.0642	10	0.87932	D	0	-15.3467	13.184	0.59670	1.0:0.0:0.0:0.0	.	325;319	B4DNU0;Q92759	.;TF2H4_HUMAN	A	319	ENSP00000259895:T319A;ENSP00000365493:T319A	ENSP00000259895:T319A	T	+	1	0	GTF2H4	30987899	1.000000	0.71417	0.958000	0.39756	0.471000	0.32888	8.246000	0.89828	2.012000	0.59069	0.528000	0.53228	ACG		0.557	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517	
IL1F10	84639	hgsc.bcm.edu	37	2	113831977	113831977	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr2:113831977A>T	ENST00000393197.2	+	2	525	c.104A>T	c.(103-105)gAc>gTc	p.D35V	IL1F10_ENST00000337569.3_Intron|IL1F10_ENST00000341010.2_Missense_Mutation_p.D35V	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	35						extracellular space (GO:0005615)		p.D35V(1)		endometrium(1)|lung(6)|ovary(1)	8						CCTGTTGCAGACAACTGCTGT	0.547																																																1	Substitution - Missense(1)	ovary(1)	2											109.0	98.0	102.0					2																	113831977		2203	4300	6503	113548448	SO:0001583	missense	84639			AY026753	CCDS2112.1	2q13	2011-07-14			ENSG00000136697	ENSG00000136697		"""Interleukins and interleukin receptors"""	15552	protein-coding gene	gene with protein product	"""FIL1- theta"", ""interleukin-1 receptor antagonist FKSG75"""	615296				11747621, 11991723, 11991722	Standard	NM_173161		Approved	FKSG75, IL-1HY2, IL-1F10, IL1-theta, MGC11983, MGC119832, MGC119833	uc002tiu.3	Q8WWZ1	OTTHUMG00000131339	ENST00000393197.2:c.104A>T	2.37:g.113831977A>T	ENSP00000376893:p.Asp35Val		113548448	Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1	Missense_Mutation	SNP	ENST00000393197.2	37	CCDS2112.1	.	.	.	.	.	.	.	.	.	.	a	11.91	1.779264	0.31502	.	.	ENSG00000136697	ENST00000341010;ENST00000393197	T;T	0.10573	2.86;2.86	4.4	4.4	0.53042	.	7739.210000	0.00166	N	0.000000	T	0.24547	0.0595	L	0.59436	1.845	0.80722	D	1	P	0.45634	0.863	P	0.51135	0.66	T	0.03662	-1.1015	10	0.30854	T	0.27	-24.1222	10.5846	0.45275	1.0:0.0:0.0:0.0	.	35	Q8WWZ1	IL1FA_HUMAN	V	35	ENSP00000341794:D35V;ENSP00000376893:D35V	ENSP00000341794:D35V	D	+	2	0	IL1F10	113548448	0.502000	0.26107	0.515000	0.27774	0.969000	0.65631	1.288000	0.33296	1.930000	0.55929	0.529000	0.55759	GAC		0.547	IL1F10-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330725.1	NM_173161	
OR8D1	283159	hgsc.bcm.edu	37	11	124180320	124180320	+	Missense_Mutation	SNP	G	G	C			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr11:124180320G>C	ENST00000357821.2	-	1	413	c.343C>G	c.(343-345)Ctg>Gtg	p.L115V		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L115V(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ATGGCAGTCAGGAGGTAACCC	0.488																																																1	Substitution - Missense(1)	ovary(1)	11											77.0	71.0	73.0					11																	124180320		2201	4299	6500	123685530	SO:0001583	missense	283159			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.343C>G	11.37:g.124180320G>C	ENSP00000350474:p.Leu115Val		123685530	B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	g	15.75	2.925640	0.52759	.	.	ENSG00000196341	ENST00000357821	T	0.01192	5.2	4.29	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29745	U	0.011309	T	0.09818	0.0241	H	0.97564	4.03	0.21184	N	0.999762	D	0.76494	0.999	D	0.65987	0.94	T	0.07751	-1.0756	10	0.87932	D	0	.	9.6181	0.39704	0.184:0.0:0.816:0.0	.	115	Q8WZ84	OR8D1_HUMAN	V	115	ENSP00000350474:L115V	ENSP00000350474:L115V	L	-	1	2	OR8D1	123685530	0.133000	0.22466	0.014000	0.15608	0.023000	0.10783	0.694000	0.25512	0.977000	0.38444	0.508000	0.49915	CTG		0.488	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917	
PGF	5228	hgsc.bcm.edu	37	14	75409432	75409432	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr14:75409432C>T	ENST00000405431.2	-	7	642	c.643G>A	c.(643-645)Ggc>Agc	p.G215S	PGF_ENST00000555567.1_Missense_Mutation_p.G164S|PGF_ENST00000553716.1_Missense_Mutation_p.G143S|PGF_ENST00000238607.6_Missense_Mutation_p.G163S			P49763	PLGF_HUMAN	placental growth factor	215					branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of morphogenesis of a branching structure (GO:0060688)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.G164S(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)	Aflibercept(DB08885)	ACAGCATCGCCGCACCTGCCA	0.627																																					GBM(127;389 2301 5452 48547)											1	Substitution - Missense(1)	ovary(1)	14											42.0	41.0	41.0					14																	75409432		2203	4298	6501	74479185	SO:0001583	missense	5228			S72960	CCDS9835.1, CCDS55932.1, CCDS73664.1	14q24.3	2013-02-18	2008-03-20		ENSG00000119630	ENSG00000119630			8893	protein-coding gene	gene with protein product	"""placenta growth factor"""	601121	"""placental growth factor-like"", ""placental growth factor, vascular endothelial growth factor-related protein"""	PGFL		7681160	Standard	NM_002632		Approved	PLGF, PlGF-2, PlGF, SHGC-10760, D12S1900	uc001xqz.3	P49763	OTTHUMG00000171496	ENST00000405431.2:c.643G>A	14.37:g.75409432C>T	ENSP00000385365:p.Gly215Ser		74479185	Q07101|Q9BV78|Q9Y6S8	Missense_Mutation	SNP	ENST00000405431.2	37	CCDS9835.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069390	0.36470	.	.	ENSG00000119630	ENST00000555567;ENST00000553716;ENST00000238607;ENST00000405431	.	.	.	5.2	3.37	0.38596	.	0.680926	0.14011	N	0.347494	T	0.13756	0.0333	N	0.19112	0.55	0.09310	N	0.999999	P;B;B	0.40230	0.708;0.37;0.254	B;B;B	0.28991	0.097;0.037;0.017	T	0.08806	-1.0704	9	0.17832	T	0.49	.	7.1088	0.25378	0.0:0.8011:0.0:0.1989	.	143;163;164	P49763-2;G3XA84;Q53XY6	.;.;.	S	164;143;163;215	.	ENSP00000238607:G164S	G	-	1	0	PGF	74479185	0.008000	0.16893	0.567000	0.28434	0.972000	0.66771	0.814000	0.27239	1.182000	0.42928	0.655000	0.94253	GGC		0.627	PGF-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414064.1	NM_002632	
POP7	10248	hgsc.bcm.edu	37	7	100304543	100304543	+	Silent	SNP	G	G	A			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr7:100304543G>A	ENST00000303151.4	+	2	352	c.90G>A	c.(88-90)ctG>ctA	p.L30L		NM_005837.2	NP_005828.2	O75817	POP7_HUMAN	processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)	30					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)	p.L30L(1)		endometrium(2)|kidney(1)|ovary(1)	4	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCAGCCGCCTGCCCCGGAGAC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	7											61.0	69.0	66.0					7																	100304543		2203	4300	6503	100142479	SO:0001819	synonymous_variant	10248			U94316	CCDS5704.1	7q22	2012-05-21	2007-06-26		ENSG00000172336	ENSG00000172336			19949	protein-coding gene	gene with protein product	"""ribonuclease P protein subunit p20"""	606113	"""processing of precursor 7, ribonuclease P subunit (S. cerevisiae)"""			9630247	Standard	NM_005837		Approved	RPP20, RPP2	uc003uwh.4	O75817	OTTHUMG00000044311	ENST00000303151.4:c.90G>A	7.37:g.100304543G>A			100142479	A4D2E0|Q9BV74	Silent	SNP	ENST00000303151.4	37	CCDS5704.1																																																																																				0.607	POP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103070.1	NM_005837	
SACM1L	22908	hgsc.bcm.edu	37	3	45751049	45751049	+	Silent	SNP	T	T	C			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr3:45751049T>C	ENST00000389061.5	+	5	597	c.393T>C	c.(391-393)ttT>ttC	p.F131F	SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000541314.1_Silent_p.F70F|SACM1L_ENST00000418611.1_Silent_p.F28F	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	131	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.F131F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TGGATGGATTTTACTTTTCAA	0.353																																																1	Substitution - coding silent(1)	ovary(1)	3											124.0	118.0	120.0					3																	45751049		2203	4300	6503	45726053	SO:0001819	synonymous_variant	22908			AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.393T>C	3.37:g.45751049T>C			45726053	A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Silent	SNP	ENST00000389061.5	37	CCDS33745.1																																																																																				0.353	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016	
SEC14L1	6397	hgsc.bcm.edu	37	17	75190860	75190860	+	Silent	SNP	A	A	G			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr17:75190860A>G	ENST00000413679.2	+	7	879	c.576A>G	c.(574-576)acA>acG	p.T192T	SEC14L1_ENST00000591437.1_Silent_p.T158T|SEC14L1_ENST00000585618.1_Silent_p.T192T|SEC14L1_ENST00000430767.4_Silent_p.T192T|SEC14L1_ENST00000392476.2_Silent_p.T192T|SEC14L1_ENST00000443798.4_Silent_p.T192T|SEC14L1_ENST00000431431.2_Silent_p.T158T|SEC14L1_ENST00000436233.4_Silent_p.T192T	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	192					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T192T(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CTTCAGAGACATCTTCATCAT	0.532																																																1	Substitution - coding silent(1)	ovary(1)	17											136.0	126.0	130.0					17																	75190860		2203	4300	6503	72702455	SO:0001819	synonymous_variant	6397			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.576A>G	17.37:g.75190860A>G			72702455	A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	CCDS11752.1																																																																																				0.532	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003	
SLC2A8	29988	hgsc.bcm.edu	37	9	130162197	130162197	+	Silent	SNP	C	C	G			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr9:130162197C>G	ENST00000373371.3	+	4	527	c.438C>G	c.(436-438)tcC>tcG	p.S146S	SLC2A8_ENST00000373352.1_5'UTR|SLC2A8_ENST00000373360.3_Silent_p.S146S	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	146					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)	p.S146S(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						TCTACATCTCCGAAATCGCCT	0.597																																																1	Substitution - coding silent(1)	ovary(1)	9											94.0	95.0	95.0					9																	130162197		2203	4300	6503	129202018	SO:0001819	synonymous_variant	29988			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"""Solute carriers"""	13812	protein-coding gene	gene with protein product		605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.438C>G	9.37:g.130162197C>G			129202018	Q8WUZ9|Q9NSC4	Silent	SNP	ENST00000373371.3	37	CCDS6870.1	.	.	.	.	.	.	.	.	.	.	C	0.846	-0.740085	0.03088	.	.	ENSG00000136856	ENST00000419132	.	.	.	5.15	-10.3	0.00346	.	.	.	.	.	T	0.41650	0.1168	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58601	-0.7608	4	.	.	.	.	4.5316	0.12008	0.1246:0.2327:0.1259:0.5167	.	.	.	.	R	56	.	.	P	+	2	0	SLC2A8	129202018	0.000000	0.05858	0.005000	0.12908	0.306000	0.27790	-3.365000	0.00496	-4.721000	0.00035	-2.233000	0.00290	CCG		0.597	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580	
SPANXN3	139067	hgsc.bcm.edu	37	X	142596799	142596799	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chrX:142596799A>T	ENST00000370503.2	-	2	354	c.271T>A	c.(271-273)Tta>Ata	p.L91I	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	91								p.L91I(1)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTCAGATAAGTCTACGCCT	0.438																																																1	Substitution - Missense(1)	ovary(1)	X											218.0	180.0	193.0					X																	142596799		2203	4300	6503	142424465	SO:0001583	missense	139067				CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.271T>A	X.37:g.142596799A>T	ENSP00000359534:p.Leu91Ile		142424465	Q0ZNK4	Missense_Mutation	SNP	ENST00000370503.2	37	CCDS35418.1	.	.	.	.	.	.	.	.	.	.	a	0.016	-1.512278	0.00984	.	.	ENSG00000189252	ENST00000370503	T	0.05925	3.37	0.73	-1.46	0.08800	.	.	.	.	.	T	0.01353	0.0044	N	0.00926	-1.1	0.09310	N	1	B	0.32396	0.369	B	0.30251	0.113	T	0.27191	-1.0081	8	0.08179	T	0.78	.	.	.	.	.	91	Q5MJ09	SPXN3_HUMAN	I	91	ENSP00000359534:L91I	ENSP00000359534:L91I	L	-	1	2	SPANXN3	142424465	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.189000	0.03061	-2.164000	0.00782	-0.853000	0.03031	TTA		0.438	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609	
TP53	7157	hgsc.bcm.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr17:7578403C>T	ENST00000269305.4	-	5	716	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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"""	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)	17											49.0	49.0	49.0					17																	7578403		2203	4300	6503	7519128	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.527G>A	17.37:g.7578403C>T	ENSP00000269305:p.Cys176Tyr		7519128	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	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497871	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.997;0.998;0.998;0.997;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176Y;ENSP00000352610:C176Y;ENSP00000269305:C176Y;ENSP00000398846:C176Y;ENSP00000391127:C176Y;ENSP00000391478:C176Y;ENSP00000425104:C44Y;ENSP00000423862:C83Y	ENSP00000269305:C176Y	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
C3AR1	719	hgsc.bcm.edu	37	12	8212521	8212521	+	Silent	SNP	C	C	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr12:8212521C>T	ENST00000307637.4	-	2	464	c.261G>A	c.(259-261)caG>caA	p.Q87Q		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	87					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.Q87Q(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CGTAGGGCCACTGTCCCTGGA	0.562																																																1	Substitution - coding silent(1)	ovary(1)	12											113.0	92.0	99.0					12																	8212521		2203	4300	6503	8103788	SO:0001819	synonymous_variant	719			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.261G>A	12.37:g.8212521C>T			8103788	O43771|Q92868	Silent	SNP	ENST00000307637.4	37	CCDS8588.1																																																																																				0.562	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1		
CHD2	1106	hgsc.bcm.edu	37	15	93499688	93499688	+	Splice_Site	SNP	G	G	C			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr15:93499688G>C	ENST00000394196.4	+	16	2877		c.e16-1		CHD2_ENST00000557381.1_Splice_Site	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2						cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.?(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTTTACTTTAGACTGTGCTGG	0.393																																																1	Unknown(1)	ovary(1)	15											98.0	97.0	97.0					15																	93499688		2197	4298	6495	91300692	SO:0001630	splice_region_variant	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1810-1G>C	15.37:g.93499688G>C			91300692	C6G482|Q96IP5	Splice_Site	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280279	0.80692	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9871	0.92775	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHD2	91300692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.823000	0.99369	2.489000	0.83994	0.557000	0.71058	.		0.393	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	Intron
ENPP2	5168	hgsc.bcm.edu	37	8	120596276	120596276	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr8:120596276C>T	ENST00000075322.6	-	16	1439	c.1381G>A	c.(1381-1383)Gtt>Att	p.V461I	ENPP2_ENST00000522826.1_Missense_Mutation_p.V461I|ENPP2_ENST00000427067.2_Missense_Mutation_p.V457I|ENPP2_ENST00000259486.6_Missense_Mutation_p.V513I|ENPP2_ENST00000522167.1_Missense_Mutation_p.V100I	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	461					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V513I(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCTTATAAACATCCAAAGGT	0.333																																					Melanoma(20;305 879 2501 4818 31020)											1	Substitution - Missense(1)	ovary(1)	8											135.0	137.0	136.0					8																	120596276		2203	4300	6503	120665457	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1381G>A	8.37:g.120596276C>T	ENSP00000075322:p.Val461Ile		120665457	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021553	0.35701	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.74947	-0.69;-0.67;-0.89;-0.67;-0.67	5.74	3.91	0.45181	Alkaline-phosphatase-like, core domain (1);	0.748643	0.13191	N	0.406747	T	0.60996	0.2312	L	0.29908	0.895	0.35839	D	0.825883	B;B;B;B	0.22080	0.064;0.001;0.052;0.001	B;B;B;B	0.23275	0.029;0.002;0.045;0.003	T	0.55029	-0.8204	10	0.13853	T	0.58	.	10.6586	0.45690	0.133:0.7987:0.0:0.0684	.	461;461;513;100	E9PHP7;Q13822;Q13822-2;E5RIA2	.;ENPP2_HUMAN;.;.	I	513;457;100;461;461	ENSP00000259486:V513I;ENSP00000403315:V457I;ENSP00000429476:V100I;ENSP00000428291:V461I;ENSP00000075322:V461I	ENSP00000075322:V461I	V	-	1	0	ENPP2	120665457	0.986000	0.35501	1.000000	0.80357	0.991000	0.79684	2.007000	0.40883	0.718000	0.32166	0.655000	0.94253	GTT		0.333	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		
KRIT1	889	hgsc.bcm.edu	37	7	91865843	91865843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr7:91865843G>T	ENST00000340022.2	-	7	1387	c.369C>A	c.(367-369)taC>taA	p.Y123*	KRIT1_ENST00000394505.2_Nonsense_Mutation_p.Y123*|KRIT1_ENST00000412043.2_Nonsense_Mutation_p.Y123*|KRIT1_ENST00000394507.1_Nonsense_Mutation_p.Y123*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.Y123*	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	123	N-terminal domain similar to Nudix hydrolase domain.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.Y123*(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGGTATATGTGTATTTAGTAT	0.313																																																1	Substitution - Nonsense(1)	ovary(1)	7											86.0	91.0	89.0					7																	91865843		2203	4300	6503	91703779	SO:0001587	stop_gained	889			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.369C>A	7.37:g.91865843G>T	ENSP00000344668:p.Tyr123*		91703779	A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Nonsense_Mutation	SNP	ENST00000340022.2	37	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	G	38	7.249770	0.98164	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016;ENST00000454017	.	.	.	5.17	2.78	0.32641	.	0.121049	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1958	0.37226	0.7827:0.0:0.2173:0.0	.	.	.	.	X	123	.	ENSP00000344668:Y123X	Y	-	3	2	KRIT1	91703779	0.059000	0.20769	1.000000	0.80357	0.971000	0.66376	0.551000	0.23361	0.311000	0.23014	-1.155000	0.01812	TAC		0.313	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1		
LRP2	4036	hgsc.bcm.edu	37	2	169985521	169985521	+	Splice_Site	SNP	A	A	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr2:169985521A>T	ENST00000263816.3	-	78	14086		c.e78+1			NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2						cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.?(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GTTAAAAATTACCTGTGCATA	0.323																																																1	Unknown(1)	ovary(1)	2											115.0	126.0	122.0					2																	169985521		2203	4300	6503	169693767	SO:0001630	splice_region_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13800+1T>A	2.37:g.169985521A>T			169693767	O00711|Q16215	Splice_Site	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.933252	0.73442	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3198	0.21211	0.7262:0.0:0.0725:0.2013	.	.	.	.	.	-1	.	.	.	-	.	.	LRP2	169693767	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.085000	0.71343	2.178000	0.69098	0.451000	0.29950	.		0.323	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	Intron
LRRC7	57554	hgsc.bcm.edu	37	1	70502290	70502290	+	Missense_Mutation	SNP	T	T	G	rs375152543		TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr1:70502290T>G	ENST00000035383.5	+	18	2187	c.2157T>G	c.(2155-2157)aaT>aaG	p.N719K	LRRC7_ENST00000310961.5_Missense_Mutation_p.N724K|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	719						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.N719K(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAGTACATAATTCTTTGTGGG	0.408																																																1	Substitution - Missense(1)	ovary(1)	1						T	LYS/ASN	0,4406		0,0,2203	141.0	154.0	150.0		2157	3.5	1.0	1		150	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRRC7	NM_020794.2	94	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	benign	719/1538	70502290	1,13005	2203	4300	6503	70274878	SO:0001583	missense	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2157T>G	1.37:g.70502290T>G	ENSP00000035383:p.Asn719Lys		70274878	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930061	0.34096	0.0	1.16E-4	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.35973	1.28;1.35	5.77	3.47	0.39725	.	0.347847	0.33959	N	0.004386	T	0.14399	0.0348	L	0.44542	1.39	0.80722	D	1	B	0.12630	0.006	B	0.14023	0.01	T	0.05099	-1.0906	10	0.66056	D	0.02	.	7.503	0.27528	0.0:0.3019:0.0:0.6981	.	719	Q96NW7	LRRC7_HUMAN	K	724;719;542	ENSP00000309245:N724K;ENSP00000035383:N719K	ENSP00000035383:N719K	N	+	3	2	LRRC7	70274878	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.796000	0.26986	0.546000	0.28920	0.528000	0.53228	AAT		0.408	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
MAP3K4	4216	hgsc.bcm.edu	37	6	161470751	161470751	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr6:161470751G>T	ENST00000392142.4	+	3	1595	c.1447G>T	c.(1447-1449)Gac>Tac	p.D483Y	MAP3K4_ENST00000366919.2_Missense_Mutation_p.D483Y|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D483Y|MAP3K4_ENST00000348824.7_Missense_Mutation_p.D483Y	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	483					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.D483Y(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TAACAGCTTCGACATCCAGTC	0.488																																																1	Substitution - Missense(1)	ovary(1)	6											59.0	58.0	59.0					6																	161470751		2203	4300	6503	161390741	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1447G>T	6.37:g.161470751G>T	ENSP00000375986:p.Asp483Tyr		161390741	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	3.632	-0.075339	0.07184	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.42	0.203	0.15195	.	1.090690	0.06940	N	0.812539	T	0.03434	0.0099	N	0.19112	0.55	0.09310	N	1	P;P	0.36378	0.492;0.55	B;B	0.37550	0.253;0.187	T	0.23332	-1.0191	10	0.02654	T	1	-4.9614	4.1215	0.10108	0.1515:0.3255:0.4125:0.1105	.	483;483	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	Y	483	ENSP00000355886:D483Y;ENSP00000375986:D483Y;ENSP00000355887:D483Y;ENSP00000297332:D483Y	ENSP00000297332:D483Y	D	+	1	0	MAP3K4	161390741	0.001000	0.12720	0.001000	0.08648	0.025000	0.11179	0.482000	0.22276	-0.284000	0.09102	0.650000	0.86243	GAC		0.488	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
MKI67	4288	hgsc.bcm.edu	37	10	129903301	129903301	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr10:129903301G>T	ENST00000368654.3	-	13	7178	c.6803C>A	c.(6802-6804)aCa>aAa	p.T2268K	MKI67_ENST00000368653.3_Missense_Mutation_p.T1908K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2268	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.T2268K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGTGTGTCCATAGC	0.468																																																1	Substitution - Missense(1)	ovary(1)	10											299.0	271.0	281.0					10																	129903301		2203	4300	6503	129793291	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6803C>A	10.37:g.129903301G>T	ENSP00000357643:p.Thr2268Lys		129793291	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333757	0.41297	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03212	4.01;4.01	2.91	1.86	0.25419	.	0.419884	0.17486	N	0.172501	T	0.09069	0.0224	M	0.63843	1.955	0.09310	N	1	P;D;D	0.71674	0.939;0.998;0.998	P;D;D	0.71414	0.687;0.973;0.966	T	0.16188	-1.0411	10	0.07175	T	0.84	.	6.3958	0.21611	0.0:0.0:0.7079:0.2921	.	2267;1908;2268	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	2268;1908;2267	ENSP00000357643:T2268K;ENSP00000357642:T1908K	ENSP00000357642:T1908K	T	-	2	0	MKI67	129793291	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.107000	0.15375	1.618000	0.50286	0.655000	0.94253	ACA		0.468	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
PAPPA	5069	hgsc.bcm.edu	37	9	118950205	118950205	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr9:118950205C>A	ENST00000328252.3	+	2	1557	c.1188C>A	c.(1186-1188)gaC>gaA	p.D396E	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	396	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D396E(2)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGGAGCTGGACGTGCTGGAGG	0.582																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	9											70.0	61.0	64.0					9																	118950205		2203	4300	6503	117990026	SO:0001583	missense	5069				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1188C>A	9.37:g.118950205C>A	ENSP00000330658:p.Asp396Glu		117990026	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	5.477	0.272996	0.10349	.	.	ENSG00000182752	ENST00000328252	T	0.40476	1.03	5.99	1.6	0.23607	.	0.456357	0.28742	N	0.014290	T	0.11623	0.0283	N	0.01352	-0.895	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09729	-1.0661	10	0.09084	T	0.74	-7.9315	5.0226	0.14369	0.1325:0.2151:0.5436:0.1088	.	396	Q13219	PAPP1_HUMAN	E	396	ENSP00000330658:D396E	ENSP00000330658:D396E	D	+	3	2	PAPPA	117990026	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.278000	0.33179	0.425000	0.26087	-0.133000	0.14855	GAC		0.582	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
SERPINA12	145264	hgsc.bcm.edu	37	14	94964401	94964401	+	Missense_Mutation	SNP	G	G	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr14:94964401G>T	ENST00000341228.2	-	3	1129	c.334C>A	c.(334-336)Ctt>Att	p.L112I	SERPINA12_ENST00000556881.1_Missense_Mutation_p.L112I	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	112					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L112I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CCCTCATGAAGATCTTTTTCT	0.522																																																1	Substitution - Missense(1)	ovary(1)	14											128.0	128.0	128.0					14																	94964401		2203	4300	6503	94034154	SO:0001583	missense	145264			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.334C>A	14.37:g.94964401G>T	ENSP00000342109:p.Leu112Ile		94034154		Missense_Mutation	SNP	ENST00000341228.2	37	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	G	2.241	-0.373845	0.05034	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.84442	-1.85;-1.85	5.59	-1.38	0.09027	Serpin domain (3);	0.853418	0.10106	N	0.715332	T	0.61248	0.2332	N	0.03281	-0.365	0.09310	N	1	B	0.15719	0.014	B	0.16289	0.015	T	0.52396	-0.8581	10	0.02654	T	1	.	8.9505	0.35785	0.0:0.2748:0.1963:0.5289	.	112	Q8IW75	SPA12_HUMAN	I	112	ENSP00000451738:L112I;ENSP00000342109:L112I	ENSP00000342109:L112I	L	-	1	0	SERPINA12	94034154	0.002000	0.14202	0.001000	0.08648	0.172000	0.22775	0.175000	0.16762	0.024000	0.15214	0.655000	0.94253	CTT		0.522	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850	
TACC2	10579	hgsc.bcm.edu	37	10	123988996	123988996	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr10:123988996C>T	ENST00000369005.1	+	15	8372	c.8032C>T	c.(8032-8034)Ctc>Ttc	p.L2678F	TACC2_ENST00000360561.3_Missense_Mutation_p.L756F|TACC2_ENST00000368999.1_Missense_Mutation_p.L768F|TACC2_ENST00000358010.1_Missense_Mutation_p.L824F|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000369004.3_Missense_Mutation_p.L768F|TACC2_ENST00000260733.3_Missense_Mutation_p.L756F|TACC2_ENST00000513429.1_Missense_Mutation_p.L824F|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.L2678F|TACC2_ENST00000453444.2_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2678					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.L2678F(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGCTCAGAAACTCCAGGTTTG	0.512																																																1	Substitution - Missense(1)	ovary(1)	10											231.0	243.0	239.0					10																	123988996		2203	4300	6503	123978986	SO:0001583	missense	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8032C>T	10.37:g.123988996C>T	ENSP00000358001:p.Leu2678Phe		123978986	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794630	0.70452	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000334433;ENST00000358010;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733	T;T;T;T;T;T;T;T	0.16457	2.76;2.48;2.76;2.48;2.83;2.39;2.83;2.34	5.78	4.88	0.63580	.	0.000000	0.32273	N	0.006333	T	0.30355	0.0762	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.98;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.995;0.918;0.999;0.999;0.999	T	0.02901	-1.1096	10	0.56958	D	0.05	-14.1764	13.0612	0.59008	0.0:0.9259:0.0:0.0741	.	768;756;756;824;2678	D6RAA5;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;TACC2_HUMAN	F	2678;824;2678;824;756;768;768;756	ENSP00000358001:L2678F;ENSP00000425062:L824F;ENSP00000334280:L2678F;ENSP00000350701:L824F;ENSP00000353763:L756F;ENSP00000357995:L768F;ENSP00000422815:L768F;ENSP00000260733:L756F	ENSP00000260733:L756F	L	+	1	0	TACC2	123978986	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.255000	0.58804	1.457000	0.47850	0.655000	0.94253	CTC		0.512	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
TYRO3	7301	hgsc.bcm.edu	37	15	41857238	41857238	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr15:41857238C>T	ENST00000263798.3	+	6	906	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	TYRO3_ENST00000559066.1_Missense_Mutation_p.P183S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	228	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P220S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCCTGCAGCCCCCTTCAACAT	0.572																																																1	Substitution - Missense(1)	ovary(1)	15											91.0	77.0	82.0					15																	41857238		2203	4300	6503	39644530	SO:0001583	missense	7301			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.682C>T	15.37:g.41857238C>T	ENSP00000263798:p.Pro228Ser		39644530	O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615606	0.87359	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.79749	-1.3	5.08	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42053	D	0.000761	D	0.88955	0.6578	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89892	0.4038	10	0.87932	D	0	-18.2944	13.8338	0.63398	0.0:1.0:0.0:0.0	.	228	Q06418	TYRO3_HUMAN	S	160;228	ENSP00000263798:P228S	ENSP00000263798:P228S	P	+	1	0	TYRO3	39644530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.998000	0.63927	2.649000	0.89929	0.655000	0.94253	CCC		0.572	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2		
DNAH3	55567	hgsc.bcm.edu	37	16	20981254	20981254	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1662-01A-01W-0615-10	TCGA-09-1662-10A-01W-0616-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fd0c309f-78d4-4d6f-a280-aa95ea387d1c	b3ef1c80-567c-4552-a0a7-42d71b70e52d	g.chr16:20981254G>A	ENST00000261383.3	-	52	8317	c.8318C>T	c.(8317-8319)gCt>gTt	p.A2773V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2773	Stalk. {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)|microtubule motor activity (GO:0003777)	p.A2773V(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGTGTCCAGAGCAGCTAGTGC	0.587																																																1	Substitution - Missense(1)	ovary(1)	16											128.0	107.0	114.0					16																	20981254		2201	4300	6501	20888755	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8318C>T	16.37:g.20981254G>A	ENSP00000261383:p.Ala2773Val		20888755	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038822	0.75617	.	.	ENSG00000158486	ENST00000261383	T	0.80214	-1.35	5.84	5.84	0.93424	Dynein heavy chain, coiled coil stalk (1);	0.133960	0.48767	D	0.000169	D	0.93743	0.8000	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.94889	0.8046	10	0.66056	D	0.02	.	20.2012	0.98260	0.0:0.0:1.0:0.0	.	2773	Q8TD57	DYH3_HUMAN	V	2773	ENSP00000261383:A2773V	ENSP00000261383:A2773V	A	-	2	0	DNAH3	20888755	1.000000	0.71417	0.182000	0.23118	0.015000	0.08874	9.707000	0.98725	2.788000	0.95919	0.549000	0.68633	GCT		0.587	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
