#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_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
PA2G4	5036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	56504345	56504345	+	Silent	SNP	C	C	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr12:56504345C>T	ENST00000303305.6	+	9	1130	c.711C>T	c.(709-711)gcC>gcT	p.A237A	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Silent_p.A237A	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	237					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TCTTTCAGGCCAAGGATGCAG	0.463																																																0													94.0	80.0	85.0					12																	56504345		2203	4300	6503	SO:0001819	synonymous_variant	5036			U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.711C>T	12.37:g.56504345C>T			O43846|Q9UM59	Silent	SNP	ENST00000303305.6	37	CCDS8902.1																																																																																				0.463	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		32	47	32	47
BTBD11	121551	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	108012060	108012060	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr12:108012060G>A	ENST00000280758.5	+	10	2885	c.2357G>A	c.(2356-2358)cGc>cAc	p.R786H	BTBD11_ENST00000490090.2_Missense_Mutation_p.R786H|BTBD11_ENST00000357167.4_Missense_Mutation_p.R323H|BTBD11_ENST00000420571.2_Intron|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	786						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGCGCCAGCCGCAACAGCAAG	0.597																																																0																																										SO:0001583	missense	121551			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2357G>A	12.37:g.108012060G>A	ENSP00000280758:p.Arg786His		A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148541	0.94603	.	.	ENSG00000151136	ENST00000280758;ENST00000490090;ENST00000357167	T;T;T	0.43294	1.12;1.15;0.95	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.62527	0.2435	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.78314	0.976;0.991;0.978	T	0.63444	-0.6636	10	0.54805	T	0.06	.	18.8084	0.92048	0.0:0.0:1.0:0.0	.	323;786;786	E9PHS4;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	H	786;786;323	ENSP00000280758:R786H;ENSP00000447319:R786H;ENSP00000349690:R323H	ENSP00000280758:R786H	R	+	2	0	BTBD11	106536190	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.509000	0.84616	0.563000	0.77884	CGC		0.597	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		27	69	27	69
EVL	51466	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	100551166	100551166	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr14:100551166G>A	ENST00000402714.2	+	2	752	c.148G>A	c.(148-150)Gtt>Att	p.V50I	EVL_ENST00000544450.2_Missense_Mutation_p.V56I|EVL_ENST00000555048.1_3'UTR|EVL_ENST00000392920.3_Missense_Mutation_p.V52I			Q9UI08	EVL_HUMAN	Enah/Vasp-like	50	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				CTTCAGAGTCGTTGGAGTCAA	0.532																																																0													120.0	94.0	103.0					14																	100551166		2203	4300	6503	SO:0001583	missense	51466			AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.148G>A	14.37:g.100551166G>A	ENSP00000384720:p.Val50Ile		A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	ENST00000402714.2	37		.	.	.	.	.	.	.	.	.	.	G	35	5.559936	0.96514	.	.	ENSG00000196405	ENST00000402714;ENST00000544450;ENST00000392920;ENST00000555706;ENST00000539470;ENST00000557153	D;D;D;D;D	0.98602	-5.02;-5.02;-5.02;-2.16;-5.02	5.84	5.84	0.93424	EVH1 (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	D	0.98451	0.9484	L	0.50919	1.6	0.80722	D	1	D;P;P	0.56521	0.976;0.946;0.566	D;D;P	0.68765	0.96;0.95;0.867	D	0.98294	1.0515	10	0.35671	T	0.21	-25.0984	20.1535	0.98095	0.0:0.0:1.0:0.0	.	56;52;50	B7Z3I5;Q9UI08-2;Q9UI08	.;.;EVL_HUMAN	I	50;56;52;37;52;37	ENSP00000384720:V50I;ENSP00000437904:V56I;ENSP00000376652:V52I;ENSP00000450723:V37I;ENSP00000452327:V37I	ENSP00000376652:V52I	V	+	1	0	EVL	99620919	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	9.807000	0.99171	2.764000	0.94973	0.650000	0.86243	GTT		0.532	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1			47	55	47	55
OCA2	4948	hgsc.bcm.edu;broad.mit.edu	37	15	28273113	28273113	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr15:28273113A>T	ENST00000354638.3	-	4	574	c.419T>A	c.(418-420)cTa>cAa	p.L140Q	OCA2_ENST00000382996.2_Missense_Mutation_p.L140Q|OCA2_ENST00000353809.5_Missense_Mutation_p.L140Q	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	140					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CTCCCTGCTTAGCAGGTATCT	0.552									Oculocutaneous Albinism																																							0													133.0	118.0	123.0					15																	28273113		2203	4300	6503	SO:0001583	missense	4948	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.419T>A	15.37:g.28273113A>T	ENSP00000346659:p.Leu140Gln		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.266487	0.40095	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996;ENST00000445578;ENST00000431101	D;D;D;D;D	0.97665	-3.63;-4.16;-3.69;-4.48;-3.24	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000002	D	0.97688	0.9242	M	0.71036	2.16	0.26484	N	0.975069	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93418	0.6774	10	0.33940	T	0.23	-11.5622	10.4254	0.44375	1.0:0.0:0.0:0.0	.	140;140	Q04671-2;Q04671	.;P_HUMAN	Q	140	ENSP00000346659:L140Q;ENSP00000261276:L140Q;ENSP00000372457:L140Q;ENSP00000414425:L140Q;ENSP00000415431:L140Q	ENSP00000261276:L140Q	L	-	2	0	OCA2	25946708	0.945000	0.32115	0.929000	0.37066	0.101000	0.19017	5.229000	0.65316	1.706000	0.51276	0.456000	0.33151	CTA		0.552	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		13	156	13	156
HERC2	8924	hgsc.bcm.edu;broad.mit.edu	37	15	28473408	28473408	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr15:28473408T>C	ENST00000261609.7	-	35	5528	c.5420A>G	c.(5419-5421)aAt>aGt	p.N1807S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATGCCGGAATTGAGCAGAAG	0.592																																																0													72.0	56.0	61.0					15																	28473408		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5420A>G	15.37:g.28473408T>C	ENSP00000261609:p.Asn1807Ser			Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.702233	0.48307	.	.	ENSG00000128731	ENST00000261609	T	0.48836	0.8	4.21	4.21	0.49690	.	0.049207	0.85682	D	0.000000	T	0.56187	0.1968	L	0.38838	1.175	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.58589	-0.7610	10	0.54805	T	0.06	.	13.7355	0.62815	0.0:0.0:0.0:1.0	.	1807	O95714	HERC2_HUMAN	S	1807	ENSP00000261609:N1807S	ENSP00000261609:N1807S	N	-	2	0	HERC2	26147003	1.000000	0.71417	0.999000	0.59377	0.235000	0.25334	7.456000	0.80751	1.876000	0.54355	0.454000	0.30748	AAT		0.592	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		7	68	7	68
FES	2242	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	91437242	91437242	+	Silent	SNP	C	C	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr15:91437242C>T	ENST00000328850.3	+	18	2422	c.2280C>T	c.(2278-2280)ccC>ccT	p.P760P	FES_ENST00000450438.2_Silent_p.P632P|FES_ENST00000414248.2_Silent_p.P632P|FES_ENST00000444422.2_Silent_p.P690P|FES_ENST00000394300.3_Silent_p.P702P|FES_ENST00000394302.1_Silent_p.P619P	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	760	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGGCCTCCCCCTATCCCAACC	0.607																																																0													187.0	200.0	195.0					15																	91437242		2198	4298	6496	SO:0001819	synonymous_variant	2242			X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.2280C>T	15.37:g.91437242C>T			B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	ENST00000328850.3	37	CCDS10365.1																																																																																				0.607	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		198	329	198	329
ATF7IP2	80063	hgsc.bcm.edu;broad.mit.edu	37	16	10551310	10551310	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr16:10551310G>T	ENST00000396560.2	+	7	1503	c.1276G>T	c.(1276-1278)Gag>Tag	p.E426*	ATF7IP2_ENST00000396559.1_Nonsense_Mutation_p.E426*|ATF7IP2_ENST00000324570.5_Nonsense_Mutation_p.E426*|ATF7IP2_ENST00000356427.2_Nonsense_Mutation_p.E426*|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	426					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						TGTGAATTATGAGCCTTCTAA	0.323																																																0													110.0	121.0	117.0					16																	10551310		2197	4300	6497	SO:0001587	stop_gained	80063			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1276G>T	16.37:g.10551310G>T	ENSP00000379808:p.Glu426*		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Nonsense_Mutation	SNP	ENST00000396560.2	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379947	0.61845	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000356427;ENST00000324570	.	.	.	3.83	0.721	0.18219	.	2.392950	0.02015	N	0.047359	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	0.0031	5.199	0.15254	0.4067:0.0:0.5933:0.0	.	.	.	.	X	426	.	ENSP00000322811:E426X	E	+	1	0	ATF7IP2	10458811	0.001000	0.12720	0.002000	0.10522	0.040000	0.13550	0.206000	0.17375	0.366000	0.24427	0.585000	0.79938	GAG		0.323	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		12	117	12	117
ITGAE	3682	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	3656701	3656701	+	Silent	SNP	C	C	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr17:3656701C>T	ENST00000263087.4	-	14	1649	c.1551G>A	c.(1549-1551)gaG>gaA	p.E517E		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	517					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CAGGGCACAGCTCAGAGCCAA	0.582																																					NSCLC(182;635 2928 8995 38788)											0													144.0	125.0	132.0					17																	3656701		2203	4300	6503	SO:0001819	synonymous_variant	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1551G>A	17.37:g.3656701C>T			Q17RS6|Q9NZU9	Silent	SNP	ENST00000263087.4	37	CCDS32531.1																																																																																				0.582	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		13	83	13	83
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		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"""	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	GRCh37	CM056413|CM920678	TP53	M	rs28934574	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	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.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		36	6	36	6
SPPL2C	162540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	43922533	43922533	+	Silent	SNP	G	G	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr17:43922533G>T	ENST00000329196.5	+	1	278	c.261G>T	c.(259-261)cgG>cgT	p.R87R	MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	87	PA.					endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										CCAGCCAGCGGCCCCTCCGCC	0.682																																																0													25.0	26.0	26.0					17																	43922533		2203	4299	6502	SO:0001819	synonymous_variant	162540				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.261G>T	17.37:g.43922533G>T			Q8TC67|Q8WVZ6	Silent	SNP	ENST00000329196.5	37	CCDS32673.1																																																																																				0.682	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		14	74	14	74
MRPS26	64949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	3027057	3027057	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr20:3027057A>G	ENST00000380325.3	+	2	375	c.251A>G	c.(250-252)gAg>gGg	p.E84G		NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	84					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|lung(1)	2						AAGGTGCACGAGGCCCGAGCC	0.701																																																0													23.0	26.0	25.0					20																	3027057		2199	4295	6494	SO:0001583	missense	64949			AB051354	CCDS13043.1	20p13	2012-09-13	2004-09-22		ENSG00000125901	ENSG00000125901		"""Mitochondrial ribosomal proteins / small subunits"""	14045	protein-coding gene	gene with protein product		611988	"""chromosome 20 open reading frame 193"""	C20orf193		11543634	Standard	NM_030811		Approved	MRP-S13, MRP-S26, RPMS13, dJ534B8.3	uc002whs.3	Q9BYN8	OTTHUMG00000031721	ENST00000380325.3:c.251A>G	20.37:g.3027057A>G	ENSP00000369682:p.Glu84Gly		Q96Q58	Missense_Mutation	SNP	ENST00000380325.3	37	CCDS13043.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.830820	0.71258	.	.	ENSG00000125901	ENST00000380325	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.77864	0.4194	M	0.78049	2.395	0.43480	D	0.995704	D	0.89917	1.0	D	0.74023	0.982	T	0.80968	-0.1145	9	0.87932	D	0	-26.4639	12.406	0.55441	1.0:0.0:0.0:0.0	.	84	Q9BYN8	RT26_HUMAN	G	84	.	ENSP00000369682:E84G	E	+	2	0	MRPS26	2975057	1.000000	0.71417	0.024000	0.17045	0.002000	0.02628	4.531000	0.60602	1.924000	0.55735	0.460000	0.39030	GAG		0.701	MRPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077692.2	NM_030811		13	27	13	27
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	48	21	48
DRD5	1816	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	9784116	9784116	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr4:9784116C>T	ENST00000304374.2	+	1	859	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	155					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GATGACTCAGCGCATGGCCTT	0.607																																																0													38.0	36.0	37.0					4																	9784116		2203	4300	6503	SO:0001583	missense	1816			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.463C>T	4.37:g.9784116C>T	ENSP00000306129:p.Arg155Cys		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	11.63	1.696441	0.30142	.	.	ENSG00000169676	ENST00000304374	T	0.43294	0.95	4.53	0.249	0.15531	GPCR, rhodopsin-like superfamily (1);	0.243822	0.34067	N	0.004300	T	0.59183	0.2175	M	0.81341	2.54	0.58432	D	0.999993	D	0.89917	1.0	D	0.68192	0.956	T	0.59440	-0.7454	10	0.52906	T	0.07	.	9.6731	0.40023	0.4728:0.4161:0.1111:0.0	.	155	P21918	DRD5_HUMAN	C	155	ENSP00000306129:R155C	ENSP00000306129:R155C	R	+	1	0	DRD5	9393214	1.000000	0.71417	0.319000	0.25293	0.745000	0.42441	1.157000	0.31724	0.150000	0.19136	0.305000	0.20034	CGC		0.607	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			6	52	6	52
FGG	2266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	155530846	155530846	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr4:155530846T>A	ENST00000336098.3	-	6	640	c.602A>T	c.(601-603)aAc>aTc	p.N201I	FGG_ENST00000407946.1_Missense_Mutation_p.N209I|FGG_ENST00000404648.3_Missense_Mutation_p.N201I|FGG_ENST00000405164.1_Missense_Mutation_p.N209I	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	201	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GAATTGCTGGTTAGCTTTCAG	0.388																																																0													116.0	113.0	114.0					4																	155530846		2203	4300	6503	SO:0001583	missense	2266				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.602A>T	4.37:g.155530846T>A	ENSP00000336829:p.Asn201Ile		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.476197	0.26511	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946;ENST00000443553;ENST00000393846	T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.59	3.12	0.35913	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.552015	0.21196	N	0.078555	T	0.63165	0.2488	N	0.20685	0.6	0.25564	N	0.986967	B;B;B;B;B	0.18968	0.004;0.032;0.031;0.031;0.025	B;B;B;B;B	0.31442	0.063;0.13;0.102;0.102;0.038	T	0.50233	-0.8852	10	0.21014	T	0.42	.	8.4186	0.32687	0.0:0.0693:0.1322:0.7985	.	98;209;201;209;201	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	I	201;209;201;209;98;98	ENSP00000384860:N201I;ENSP00000384101:N209I;ENSP00000336829:N201I;ENSP00000384552:N209I;ENSP00000407562:N98I;ENSP00000377429:N98I	ENSP00000336829:N201I	N	-	2	0	FGG	155750296	0.180000	0.23148	0.929000	0.37066	0.991000	0.79684	1.451000	0.35145	0.466000	0.27193	0.533000	0.62120	AAC		0.388	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		43	52	43	52
UGT3A1	133688	hgsc.bcm.edu;broad.mit.edu	37	5	35954579	35954579	+	Splice_Site	SNP	A	A	G			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr5:35954579A>G	ENST00000274278.3	-	7	1654	c.1297T>C	c.(1297-1299)Tac>Cac	p.Y433H	UGT3A1_ENST00000513233.1_5'Flank	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	433						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCGACTTGTACCTGTTGGCG	0.552																																																0													38.0	35.0	36.0					5																	35954579		2203	4300	6503	SO:0001630	splice_region_variant	133688				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1296-1T>C	5.37:g.35954579A>G			G5E961|Q8IYS9|Q8NAW4|Q96DM6	Splice_Site	SNP	ENST00000274278.3	37	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	12.56	1.973581	0.34848	.	.	ENSG00000145626	ENST00000274278	T	0.73047	-0.71	3.39	2.2	0.27929	.	0.097401	0.42964	U	0.000625	D	0.86628	0.5978	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85830	0.1391	10	0.87932	D	0	.	8.0103	0.30349	0.893:0.0:0.107:0.0	.	433	Q6NUS8	UD3A1_HUMAN	H	433	ENSP00000274278:Y433H	ENSP00000274278:Y433H	Y	-	1	0	UGT3A1	35990336	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	3.916000	0.56416	0.468000	0.27243	-0.526000	0.04340	TAC		0.552	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404	Missense_Mutation	6	48	6	48
GABRB2	2561	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	160758095	160758095	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr5:160758095T>C	ENST00000393959.1	-	8	871	c.872A>G	c.(871-873)cAc>cGc	p.H291R	GABRB2_ENST00000517901.1_Missense_Mutation_p.H228R|GABRB2_ENST00000517547.1_Missense_Mutation_p.H131R|GABRB2_ENST00000274547.2_Missense_Mutation_p.H291R|GABRB2_ENST00000353437.6_Missense_Mutation_p.H291R|GABRB2_ENST00000520240.1_Missense_Mutation_p.H291R			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	291	Allosteric effector binding. {ECO:0000250}.				cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCCCGGAGGTGGGTGTTGAT	0.423																																																0													174.0	180.0	178.0					5																	160758095		2203	4300	6503	SO:0001583	missense	2561				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.872A>G	5.37:g.160758095T>C	ENSP00000377531:p.His291Arg		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084917	0.76642	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.17	5.17	0.71159	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.099352	0.64402	D	0.000002	D	0.87466	0.6184	L	0.28274	0.84	0.80722	D	1	D;D;D;D	0.69078	0.997;0.979;0.983;0.99	D;D;D;D	0.80764	0.994;0.985;0.926;0.948	D	0.89238	0.3582	10	0.72032	D	0.01	.	15.0094	0.71539	0.0:0.0:0.0:1.0	.	131;228;291;291	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	R	291;291;291;291;228;131	ENSP00000377531:H291R;ENSP00000274547:H291R;ENSP00000274546:H291R;ENSP00000429320:H291R;ENSP00000430532:H228R;ENSP00000429750:H131R	ENSP00000274547:H291R	H	-	2	0	GABRB2	160690673	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.911000	0.87458	1.943000	0.56356	0.460000	0.39030	CAC		0.423	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			20	126	20	126
PON1	5444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	94940783	94940783	+	Silent	SNP	G	G	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:94940783G>T	ENST00000222381.3	-	5	708	c.477C>A	c.(475-477)atC>atA	p.I159I	PON1_ENST00000542556.1_Silent_p.I159I	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	159					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	GTTTATGTCTGATGGTTTTTA	0.383																																					GBM(119;715 1622 17358 22490 33240)											0													207.0	200.0	202.0					7																	94940783		2203	4300	6503	SO:0001819	synonymous_variant	5444			AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.477C>A	7.37:g.94940783G>T			B2RA40|Q16052|Q6B0J6|Q9UCB1	Silent	SNP	ENST00000222381.3	37	CCDS5638.1																																																																																				0.383	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		32	57	32	57
CBLL1	79872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	107398758	107398758	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:107398758A>G	ENST00000440859.3	+	6	1078	c.611A>G	c.(610-612)aAt>aGt	p.N204S	CBLL1_ENST00000222597.2_Missense_Mutation_p.N203S|CBLL1_ENST00000415884.2_3'UTR	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	204	HYB domain. {ECO:0000250}.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TCACTTGAAAATGTTCATCCT	0.468																																																0													196.0	178.0	184.0					7																	107398758		2203	4300	6503	SO:0001583	missense	79872			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.611A>G	7.37:g.107398758A>G	ENSP00000401277:p.Asn204Ser		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	A	3.788	-0.044215	0.07452	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.29655	1.56;1.56;1.64	5.14	-1.0	0.10196	.	0.560546	0.17832	N	0.160482	T	0.11793	0.0287	N	0.02539	-0.55	0.25062	N	0.991054	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.23940	-1.0174	10	0.11794	T	0.64	-3.0315	16.3263	0.82983	0.2569:0.743:0.0:0.0	.	203;204	B7ZM03;Q75N03	.;HAKAI_HUMAN	S	204;83;203;154;150	ENSP00000401277:N204S;ENSP00000222597:N203S;ENSP00000410615:N154S	ENSP00000222597:N203S	N	+	2	0	CBLL1	107185994	0.980000	0.34600	0.989000	0.46669	0.998000	0.95712	2.530000	0.45641	-0.002000	0.14469	0.533000	0.62120	AAT		0.468	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		92	134	92	134
PLXNA4	91584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	131848943	131848943	+	Silent	SNP	G	G	A	rs557551688	byFrequency	TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:131848943G>A	ENST00000359827.3	-	24	5420	c.4458C>T	c.(4456-4458)agC>agT	p.S1486S	PLXNA4_ENST00000321063.4_Silent_p.S1486S			Q9HCM2	PLXA4_HUMAN	plexin A4	1486					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTTGTCCTCGCTCAAGGAGT	0.607													G|||	4	0.000798722	0.0	0.0	5008	,	,		17077	0.0		0.0	False		,,,				2504	0.0041															0													77.0	83.0	81.0					7																	131848943		2203	4300	6503	SO:0001819	synonymous_variant	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4458C>T	7.37:g.131848943G>A			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																				0.607	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		10	72	10	72
CNOT4	4850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	135048807	135048807	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:135048807A>G	ENST00000451834.1	-	11	1913	c.1630T>C	c.(1630-1632)Tct>Cct	p.S544P	CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000541284.1_Missense_Mutation_p.S547P|CNOT4_ENST00000473470.1_5'UTR			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CTCTCTACAGAACTGCTGTTG	0.388																																					Ovarian(51;766 1130 5502 35047 50875)											0													199.0	180.0	186.0					7																	135048807		876	1991	2867	SO:0001583	missense	4850			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.1630T>C	7.37:g.135048807A>G	ENSP00000388491:p.Ser544Pro		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000451834.1	37	CCDS55167.1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.776688	0.70107	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000262563	T;T	0.49720	0.78;0.77	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.60340	0.2261	L	0.40543	1.245	0.80722	D	1	D;D	0.57899	0.967;0.981	D;D	0.68621	0.91;0.959	T	0.60151	-0.7319	10	0.49607	T	0.09	-9.3913	16.2303	0.82332	1.0:0.0:0.0:0.0	.	544;547	E7ET38;F8VQP3	.;.	P	547;544;547	ENSP00000445508:S547P;ENSP00000388491:S544P	ENSP00000262563:S547P	S	-	1	0	CNOT4	134699347	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.233000	0.73108	0.533000	0.62120	TCT		0.388	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340670.1	NM_013316		47	126	47	126
TAF2	6873	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	120768315	120768315	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr8:120768315T>G	ENST00000378164.2	-	22	3107	c.2809A>C	c.(2809-2811)Act>Cct	p.T937P	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	937					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATGTTCTTAGTAAATGGTGGG	0.348																																																0													113.0	110.0	111.0					8																	120768315		2203	4300	6503	SO:0001583	missense	6873			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2809A>C	8.37:g.120768315T>G	ENSP00000367406:p.Thr937Pro		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.642332	0.87859	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.40476	1.03;1.03	4.6	4.6	0.57074	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40498	0.1119	L	0.58101	1.795	0.80722	D	1	B	0.34103	0.437	B	0.34180	0.177	T	0.29761	-1.0001	10	0.31617	T	0.26	-21.1938	14.2816	0.66216	0.0:0.0:0.0:1.0	.	937	Q6P1X5	TAF2_HUMAN	P	937;61	ENSP00000367406:T937P;ENSP00000436750:T61P	ENSP00000367406:T937P	T	-	1	0	TAF2	120837496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.213000	0.72194	1.838000	0.53458	0.528000	0.53228	ACT		0.348	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		7	66	7	66
EIF1AX	1964	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	20156713	20156713	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chrX:20156713C>T	ENST00000379607.5	-	2	247	c.44G>A	c.(43-45)gGt>gAt	p.G15D	snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2_19_ENST00000364722.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	15					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCATTCTTACCCCTGCGTCT	0.308																																																0													164.0	152.0	156.0					X																	20156713		2203	4300	6503	SO:0001583	missense	1964			L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.44G>A	X.37:g.20156713C>T	ENSP00000368927:p.Gly15Asp		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551056	0.65311	.	.	ENSG00000173674	ENST00000379607	T	0.45276	0.9	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.75953	0.3920	H	0.96175	3.78	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	D	0.85102	0.0958	9	0.87932	D	0	-6.0481	17.661	0.88193	0.0:1.0:0.0:0.0	.	15	P47813	IF1AX_HUMAN	D	15	ENSP00000368927:G15D	ENSP00000368927:G15D	G	-	2	0	EIF1AX	20066634	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGT		0.308	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			25	9	25	9
ATRX	546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	76938407	76938407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chrX:76938407G>A	ENST00000373344.5	-	9	2555	c.2341C>T	c.(2341-2343)Cga>Tga	p.R781*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R743*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	781					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GAACTTTTTCGTTTCCTTTTT	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											135.0	140.0	138.0					X																	76938407		2203	4295	6498	SO:0001587	stop_gained	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2341C>T	X.37:g.76938407G>A	ENSP00000362441:p.Arg781*		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	40	8.338225	0.98767	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.95	2.89	0.33648	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6206	13.5519	0.61736	0.0:0.0:0.4558:0.5442	.	.	.	.	X	781;743;708	.	ENSP00000362441:R781X	R	-	1	2	ATRX	76825063	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.180000	0.32005	0.610000	0.30035	0.513000	0.50165	CGA		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		47	13	47	13
TBC1D8B	54885	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	106083910	106083910	+	Silent	SNP	T	T	C			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chrX:106083910T>C	ENST00000357242.5	+	10	1689	c.1515T>C	c.(1513-1515)aaT>aaC	p.N505N	TBC1D8B_ENST00000310452.2_Silent_p.N505N|TBC1D8B_ENST00000276175.3_Silent_p.N499N	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	505	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTGCTGTTAATGACATGGCTA	0.358																																																0													131.0	125.0	127.0					X																	106083910		2203	4299	6502	SO:0001819	synonymous_variant	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1515T>C	X.37:g.106083910T>C			B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Silent	SNP	ENST00000357242.5	37	CCDS14522.1																																																																																				0.358	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		30	33	30	33
TEKT4P2	100132288	broad.mit.edu;ucsc.edu	37	21	9907312	9907312	+	RNA	SNP	G	G	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr21:9907312G>A	ENST00000416067.1	-	0	1480					NR_037872.1|NR_038327.1				tektin 4 pseudogene 2																		CACTTCTGGCGGTCGATGAAG	0.582																																																0																																												100132288					21p11.2	2012-10-03	2011-06-14	2011-06-14	ENSG00000188681	ENSG00000188681			40046	pseudogene	pseudogene			"""MAFF interacting protein-like"""	MAFIPL			Standard	NR_038327		Approved		uc021wgx.1		OTTHUMG00000172149		21.37:g.9907312G>A				RNA	SNP	ENST00000416067.1	37		.	.	.	.	.	.	.	.	.	.	.	3.744	-0.053008	0.07362	.	.	ENSG00000188681	ENST00000400754	.	.	.	0.109	0.109	0.14578	.	.	.	.	.	T	0.27559	0.0677	.	.	.	.	.	.	.	.	.	.	.	.	T	0.31280	-0.9949	3	.	.	.	.	2.9432	0.05837	2.0E-4:2.0E-4:0.51:0.4896	.	.	.	.	C	104	.	.	R	-	1	0	CR392039.1	.	0.956000	0.32656	0.046000	0.18839	0.047000	0.14425	-0.012000	0.12699	0.181000	0.19994	0.184000	0.17185	CGC		0.582	TEKT4P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417115.1	NM_001033515		9	45	9	45
MPP7	143098	broad.mit.edu;ucsc.edu	37	10	28378749	28378749	+	Missense_Mutation	SNP	C	C	T	rs145943944	byFrequency	TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr10:28378749C>T	ENST00000375732.1	-	12	1233	c.974G>A	c.(973-975)cGt>cAt	p.R325H	MPP7_ENST00000445954.2_Missense_Mutation_p.R200H|MPP7_ENST00000540098.1_Missense_Mutation_p.R325H|MPP7_ENST00000337532.5_Missense_Mutation_p.R325H|MPP7_ENST00000375719.3_Missense_Mutation_p.R325H			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	325					establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCTACTAAGACGAAAACTTTT	0.313																																																0								C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	126.0	107.0	114.0		974	5.8	1.0	10	dbSNP_134	114	0,8600		0,0,4300	yes	missense	MPP7	NM_173496.3	29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	325/577	28378749	3,13003	2203	4300	6503	SO:0001583	missense	143098			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.974G>A	10.37:g.28378749C>T	ENSP00000364884:p.Arg325His		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096882	0.94197	6.81E-4	0.0	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595;ENST00000445954	D;D;D;D;T;D	0.82711	-1.64;-1.64;-1.64;-1.64;1.43;-1.64	5.79	5.79	0.91817	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	D	0.90820	0.7117	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.88337	0.2972	10	0.30078	T	0.28	.	20.0222	0.97508	0.0:1.0:0.0:0.0	.	325	Q5T2T1	MPP7_HUMAN	H	325;325;325;325;86;200	ENSP00000364884:R325H;ENSP00000337907:R325H;ENSP00000438693:R325H;ENSP00000364871:R325H;ENSP00000398319:R86H;ENSP00000405397:R200H	ENSP00000337907:R325H	R	-	2	0	MPP7	28418755	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.481000	0.81124	2.726000	0.93360	0.655000	0.94253	CGT		0.313	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		10	37	10	37
TNC	3371	broad.mit.edu;ucsc.edu	37	9	117826102	117826102	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr9:117826102T>A	ENST00000350763.4	-	12	4144	c.3733A>T	c.(3733-3735)Acc>Tcc	p.T1245S	TNC_ENST00000542877.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.T1245S|TNC_ENST00000423613.2_Missense_Mutation_p.T1245S|TNC_ENST00000346706.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1245	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GAGAGAGGGGTTGTGCTGAAG	0.522																																																0													130.0	131.0	131.0					9																	117826102		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3733A>T	9.37:g.117826102T>A	ENSP00000265131:p.Thr1245Ser		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	T	1.703	-0.501041	0.04261	.	.	ENSG00000041982	ENST00000350763;ENST00000341037;ENST00000423613	T;T;T	0.04083	3.71;3.71;3.71	5.84	-11.7	0.00046	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.160130	0.06225	N	0.687460	T	0.03695	0.0105	L	0.36672	1.1	0.09310	N	0.999999	B;B	0.29270	0.24;0.003	B;B	0.39771	0.309;0.02	T	0.30504	-0.9976	10	0.10111	T	0.7	.	5.4948	0.16797	0.0707:0.3873:0.1527:0.3894	.	1245;1245	E9PC84;P24821	.;TENA_HUMAN	S	1245	ENSP00000265131:T1245S;ENSP00000339553:T1245S;ENSP00000411406:T1245S	ENSP00000339553:T1245S	T	-	1	0	TNC	116865923	0.000000	0.05858	0.004000	0.12327	0.305000	0.27757	-1.088000	0.03379	-2.081000	0.00869	-0.256000	0.11100	ACC		0.522	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		21	107	21	107
OXSM	54995	broad.mit.edu;ucsc.edu	37	3	25833094	25833094	+	Nonsense_Mutation	SNP	C	C	T	rs147184138		TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr3:25833094C>T	ENST00000280701.3	+	2	682	c.583C>T	c.(583-585)Cga>Tga	p.R195*	OXSM_ENST00000420173.2_Nonsense_Mutation_p.R195*|OXSM_ENST00000449808.1_Intron|NGLY1_ENST00000417874.2_5'Flank	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	195					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGTCAGCATTCGATATAAACT	0.433																																																0													70.0	73.0	72.0					3																	25833094		2203	4300	6503	SO:0001587	stop_gained	54995			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.583C>T	3.37:g.25833094C>T	ENSP00000280701:p.Arg195*			Nonsense_Mutation	SNP	ENST00000280701.3	37	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	C	35	5.526994	0.96431	.	.	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	6.16	6.16	0.99307	.	0.332646	0.31392	N	0.007733	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2555	13.6708	0.62424	0.2509:0.7491:0.0:0.0	.	.	.	.	X	195	.	ENSP00000280701:R195X	R	+	1	2	OXSM	25808098	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	4.679000	0.61649	2.937000	0.99478	0.650000	0.86243	CGA		0.433	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		11	69	11	69
GNAI1	2770	broad.mit.edu;ucsc.edu	37	7	79818476	79818476	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:79818476A>G	ENST00000351004.3	+	3	605	c.232A>G	c.(232-234)Atc>Gtc	p.I78V	GNAI1_ENST00000490206.1_3'UTR|GNAI1_ENST00000457358.2_Missense_Mutation_p.I26V	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	78					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						CAGTAACACCATCCAGTCAAT	0.398																																																0													144.0	143.0	144.0					7																	79818476		2203	4300	6503	SO:0001583	missense	2770			AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.232A>G	7.37:g.79818476A>G	ENSP00000343027:p.Ile78Val		A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.098416	0.56183	.	.	ENSG00000127955	ENST00000351004;ENST00000418742;ENST00000457358;ENST00000447650	D;D;D;T	0.88046	-2.33;-2.33;-2.33;0.97	6.04	6.04	0.98038	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	T	0.78811	0.4342	N	0.16602	0.42	0.80722	D	1	B	0.02656	0.0	B	0.17722	0.019	T	0.73011	-0.4117	9	.	.	.	.	16.6349	0.85050	1.0:0.0:0.0:0.0	.	78	P63096	GNAI1_HUMAN	V	78;26;26;26	ENSP00000343027:I78V;ENSP00000389435:I26V;ENSP00000410572:I26V;ENSP00000388347:I26V	.	I	+	1	0	GNAI1	79656412	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.330000	0.79161	0.477000	0.44152	ATC		0.398	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		6	23	6	23
