#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
PLCE1	51196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	96005955	96005955	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr10:96005955G>T	ENST00000371380.3	+	7	2908	c.2673G>T	c.(2671-2673)ttG>ttT	p.L891F	PLCE1_ENST00000260766.3_Missense_Mutation_p.L891F|PLCE1_ENST00000371375.1_Missense_Mutation_p.L583F|PLCE1_ENST00000371385.3_Missense_Mutation_p.L583F			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	891					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATAGCACCTTGACCTGGGTAA	0.552																																																0													47.0	53.0	51.0					10																	96005955		2109	4237	6346	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2673G>T	10.37:g.96005955G>T	ENSP00000360431:p.Leu891Phe		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.330061	0.60743	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	6.04	4.18	0.49190	.	0.366044	0.24925	N	0.034516	T	0.67534	0.2903	L	0.53249	1.67	0.33121	D	0.541831	D;D;D	0.71674	0.998;0.991;0.991	D;D;P	0.64321	0.924;0.92;0.804	T	0.74760	-0.3556	10	0.38643	T	0.18	.	12.952	0.58407	0.1319:0.0:0.8681:0.0	.	891;583;891	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	F	891;891;583;583	ENSP00000260766:L891F;ENSP00000360431:L891F;ENSP00000360438:L583F;ENSP00000360426:L583F	ENSP00000260766:L891F	L	+	3	2	PLCE1	95995945	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	1.856000	0.39389	1.575000	0.49775	0.585000	0.79938	TTG		0.552	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		29	31	29	31
ENTPD7	57089	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	101464242	101464242	+	Silent	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr10:101464242T>C	ENST00000370489.4	+	13	1795	c.1617T>C	c.(1615-1617)caT>caC	p.H539H	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	539						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GACAAGCCCATGGTAGCTGGT	0.458																																																0													189.0	153.0	165.0					10																	101464242		2203	4300	6503	SO:0001819	synonymous_variant	57089			AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1617T>C	10.37:g.101464242T>C			B2RB83|B3KP21|D3DR64	Silent	SNP	ENST00000370489.4	37	CCDS7480.1																																																																																				0.458	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		39	77	39	77
AMER2	219287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	25743874	25743874	+	Silent	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr13:25743874T>C	ENST00000515384.1	-	1	2551	c.1884A>G	c.(1882-1884)caA>caG	p.Q628Q	AMER2_ENST00000357816.2_Silent_p.Q509Q|AMER2_ENST00000381853.3_Silent_p.Q509Q			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	628					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										TCCTGGAGGGTTGCTGGTGCA	0.557																																																0													143.0	133.0	136.0					13																	25743874		2203	4300	6503	SO:0001819	synonymous_variant	219287			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1884A>G	13.37:g.25743874T>C			Q5RL80|Q5VX56|Q8N593|Q96NN5	Silent	SNP	ENST00000515384.1	37	CCDS53859.1																																																																																				0.557	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		74	121	74	121
SLC7A7	9056	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	23282566	23282566	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr14:23282566C>T	ENST00000397532.3	-	2	567	c.42G>A	c.(40-42)gaG>gaA	p.E14E	SLC7A7_ENST00000555702.1_Silent_p.E14E|SLC7A7_ENST00000397529.2_Silent_p.E14E|SLC7A7_ENST00000397528.4_Silent_p.E14E|SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000285850.7_Silent_p.E14E			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	14					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGGTTTCCACCTCAGGCTGGG	0.562																																																0													56.0	51.0	53.0					14																	23282566		2202	4295	6497	SO:0001819	synonymous_variant	9056			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.42G>A	14.37:g.23282566C>T			B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	37	CCDS9574.1																																																																																				0.562	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			44	84	44	84
FBN1	2200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	48764791	48764791	+	Silent	SNP	G	G	A	rs112375043		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr15:48764791G>A	ENST00000316623.5	-	35	4748	c.4293C>T	c.(4291-4293)tgC>tgT	p.C1431C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1431	EGF-like 24; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		C -> W (in MFS; dbSNP:rs112375043). {ECO:0000269|PubMed:21542060}.|C -> Y (in MFS). {ECO:0000269|PubMed:21542060}.		extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCCCATGTCGCATTCACAGC	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		16840	0.0		0.0	False		,,,				2504	0.001															0													145.0	134.0	138.0					15																	48764791		2198	4296	6494	SO:0001819	synonymous_variant	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4293C>T	15.37:g.48764791G>A			B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																				0.527	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			74	113	74	113
ADAMTSL3	57188	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	84373247	84373247	+	Missense_Mutation	SNP	G	G	T	rs77028575	byFrequency	TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr15:84373247G>T	ENST00000286744.5	+	3	400	c.176G>T	c.(175-177)cGc>cTc	p.R59L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R59L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	59						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTCACTTATCGCTATGATGAC	0.453																																																0													179.0	176.0	177.0					15																	84373247		2203	4300	6503	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.176G>T	15.37:g.84373247G>T	ENSP00000286744:p.Arg59Leu		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511576	0.85389	.	.	ENSG00000156218	ENST00000286744	T	0.66099	-0.19	5.45	5.45	0.79879	.	0.784953	0.11105	N	0.599168	T	0.74749	0.3757	L	0.41236	1.265	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.68135	-0.5489	10	0.31617	T	0.26	.	19.2865	0.94077	0.0:0.0:1.0:0.0	.	59;59	P82987-2;P82987	.;ATL3_HUMAN	L	59	ENSP00000286744:R59L	ENSP00000286744:R59L	R	+	2	0	ADAMTSL3	82164251	1.000000	0.71417	0.997000	0.53966	0.845000	0.48019	7.483000	0.81158	2.569000	0.86673	0.655000	0.94253	CGC		0.453	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		71	119	71	119
ACAN	176	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	89386881	89386881	+	Splice_Site	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr15:89386881T>C	ENST00000561243.1	+	5	1051		c.e5+2		ACAN_ENST00000558207.1_Splice_Site|ACAN_ENST00000439576.2_Splice_Site|ACAN_ENST00000352105.7_Splice_Site|ACAN_ENST00000559004.1_Splice_Site			P16112	PGCA_HUMAN	aggrecan						carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCTACACAGGTGGGGCACGGC	0.607																																																0													47.0	49.0	48.0					15																	89386881		1977	4159	6136	SO:0001630	splice_region_variant	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1051+2T>C	15.37:g.89386881T>C			Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Splice_Site	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.712717	0.68730	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	.	.	.	5.56	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9399	0.52894	0.0:0.0:0.1456:0.8544	.	.	.	.	.	-1	.	.	.	+	.	.	ACAN	87187885	1.000000	0.71417	0.918000	0.36340	0.865000	0.49528	5.955000	0.70306	0.920000	0.36970	0.528000	0.53228	.		0.607	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	Intron	13	118	13	118
WDR81	124997	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	1636086	1636086	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:1636086A>G	ENST00000409644.1	+	6	4450	c.4450A>G	c.(4450-4452)Atg>Gtg	p.M1484V	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Missense_Mutation_p.M257V|WDR81_ENST00000437219.2_Missense_Mutation_p.M281V|WDR81_ENST00000446363.1_Missense_Mutation_p.M123V|WDR81_ENST00000545662.1_Missense_Mutation_p.M115V|WDR81_ENST00000309182.5_Missense_Mutation_p.M433V	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1484					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACCCTGGAGATGGCATACAC	0.627																																																0													119.0	73.0	89.0					17																	1636086		2202	4300	6502	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4450A>G	17.37:g.1636086A>G	ENSP00000386609:p.Met1484Val		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.915959	0.73098	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000418841;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T;T	0.58060	2.3;2.15;0.42;2.33;0.4;0.44;0.36	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	L	0.55481	1.735	0.54753	D	0.99998	P;P;D;P	0.54964	0.817;0.817;0.969;0.9	B;B;D;B	0.63381	0.217;0.217;0.914;0.438	T	0.68096	-0.5499	10	0.59425	D	0.04	.	15.3314	0.74215	1.0:0.0:0.0:0.0	.	115;281;611;433	B7Z6V3;B7Z579;Q8TEL1;Q562E7	.;.;.;WDR81_HUMAN	V	281;433;123;257;69;1484;235;115	ENSP00000391074:M281V;ENSP00000312074:M433V;ENSP00000401560:M123V;ENSP00000407845:M257V;ENSP00000395198:M69V;ENSP00000386609:M1484V;ENSP00000442726:M115V	ENSP00000312074:M433V	M	+	1	0	WDR81	1582836	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.700000	0.74619	2.224000	0.72417	0.533000	0.62120	ATG		0.627	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		22	30	22	30
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:7578524G>C	ENST00000269305.4	-	5	595	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_ENST00000445888.2_Missense_Mutation_p.Q136E|TP53_ENST00000413465.2_Missense_Mutation_p.Q136E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.Q136E|TP53_ENST00000420246.2_Missense_Mutation_p.Q136E|TP53_ENST00000359597.4_Missense_Mutation_p.Q136E	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	136	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)	TTGGCCAGTTGGCAAAACATC	0.562		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"""	67	Substitution - Nonsense(36)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(4)|Insertion - In frame(2)|Insertion - Frameshift(1)|Complex - deletion inframe(1)	upper_aerodigestive_tract(9)|ovary(9)|urinary_tract(8)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|breast(4)|bone(4)|large_intestine(3)|oesophagus(3)|skin(3)|lung(3)|soft_tissue(1)|endometrium(1)|pancreas(1)	GRCh37	CM971503	TP53	M							52.0	52.0	52.0					17																	7578524		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.406C>G	17.37:g.7578524G>C	ENSP00000269305:p.Gln136Glu		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	26.1	4.708589	0.89018	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75	5.48	5.48	0.80851	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	0.99753	0.9901	M	0.85373	2.75	0.80722	D	1	P;D;P;D;D;D;D	0.67145	0.95;0.977;0.572;0.989;0.996;0.981;0.996	P;D;B;P;D;D;D	0.69654	0.794;0.928;0.197;0.888;0.965;0.941;0.909	D	0.97401	0.9996	10	0.87932	D	0	-25.5387	17.2272	0.86973	0.0:0.0:1.0:0.0	.	97;136;136;43;136;136;136	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	136;136;136;136;136;136;125;43;4;43;4;136	ENSP00000410739:Q136E;ENSP00000352610:Q136E;ENSP00000269305:Q136E;ENSP00000398846:Q136E;ENSP00000391127:Q136E;ENSP00000391478:Q136E;ENSP00000425104:Q4E;ENSP00000423862:Q43E;ENSP00000424104:Q136E	ENSP00000269305:Q136E	Q	-	1	0	TP53	7519249	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	9.809000	0.99208	2.733000	0.93635	0.655000	0.94253	CAA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		59	17	59	17
TXNDC2	84203	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	9886961	9886961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr18:9886961G>A	ENST00000306084.6	+	2	684	c.485G>A	c.(484-486)gGc>gAc	p.G162D	TXNDC2_ENST00000357775.5_Missense_Mutation_p.G95D|TXNDC2_ENST00000536353.2_Missense_Mutation_p.G95D	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	162	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCAAGCTGGGCAATATTCCC	0.562																																																0													123.0	131.0	128.0					18																	9886961		2203	4300	6503	SO:0001583	missense	84203			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.485G>A	18.37:g.9886961G>A	ENSP00000304908:p.Gly162Asp		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	g	8.901	0.956346	0.18507	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.41758	1.94;0.99;0.99	3.16	-6.33	0.01988	.	1.685430	0.03585	N	0.230870	T	0.25082	0.0609	N	0.14661	0.345	0.09310	N	1	B	0.33637	0.42	B	0.37198	0.243	T	0.21655	-1.0239	9	.	.	.	-1.0E-4	7.5046	0.27536	0.3653:0.4185:0.2161:0.0	.	162	Q86VQ3	TXND2_HUMAN	D	95;95;162;162	ENSP00000437393:G95D;ENSP00000350419:G95D;ENSP00000304908:G162D	.	G	+	2	0	TXNDC2	9876961	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.096000	0.00606	-2.727000	0.00386	-0.368000	0.07277	GGC		0.562	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			86	158	86	158
MAG	4099	hgsc.bcm.edu;broad.mit.edu	37	19	35793494	35793494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr19:35793494G>A	ENST00000392213.3	+	7	1273	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	MAG_ENST00000537831.2_Missense_Mutation_p.E347K|MAG_ENST00000361922.4_Missense_Mutation_p.E372K	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	372	Ig-like C2-type 3.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGTCATCTACGAGAGCGAGCT	0.587																																																0													110.0	92.0	98.0					19																	35793494		2203	4300	6503	SO:0001583	missense	4099			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1114G>A	19.37:g.35793494G>A	ENSP00000376048:p.Glu372Lys		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904761	0.72868	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.77750	-1.12;-1.12;-1.12	5.14	5.14	0.70334	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053488	0.64402	D	0.000001	T	0.76528	0.4000	L	0.28115	0.83	0.80722	D	1	D;D;D	0.69078	0.997;0.989;0.997	P;P;P	0.59424	0.857;0.689;0.852	T	0.71038	-0.4708	10	0.09843	T	0.71	.	16.0851	0.81042	0.0:0.0:1.0:0.0	.	409;372;372	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	K	409;372;372;347	ENSP00000355234:E372K;ENSP00000376048:E372K;ENSP00000440695:E347K	ENSP00000262624:E409K	E	+	1	0	MAG	40485334	1.000000	0.71417	0.995000	0.50966	0.645000	0.38454	4.820000	0.62671	2.381000	0.81170	0.455000	0.32223	GAG		0.587	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		10	108	10	108
TEX101	83639	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	43922452	43922452	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr19:43922452G>A	ENST00000598265.1	+	6	819	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	TEX101_ENST00000253435.7_Missense_Mutation_p.R236Q|TEX101_ENST00000602198.1_Missense_Mutation_p.R236Q|TEX101_ENST00000601707.1_3'UTR	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	218						acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				ACTCAACCTCGAAAGACTGAA	0.498																																																0													115.0	112.0	113.0					19																	43922452		2203	4300	6503	SO:0001583	missense	83639			AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"""cancer/testis antigen 131"", ""spermatogenesis associated 44"""	612665	"""testis expressed sequence 101"""			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.653G>A	19.37:g.43922452G>A	ENSP00000472769:p.Arg218Gln		Q7L5R2|Q9BPY7	Missense_Mutation	SNP	ENST00000598265.1	37	CCDS59393.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003285	0.74932	.	.	ENSG00000131126	ENST00000253435;ENST00000407156	T	0.10960	2.82	4.28	4.28	0.50868	.	0.000000	0.35805	N	0.002979	T	0.24812	0.0602	L	0.54323	1.7	0.29837	N	0.829536	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.01393	-1.1366	10	0.25751	T	0.34	-15.2851	12.5165	0.56036	0.0:0.0:1.0:0.0	.	218;236	Q9BY14;Q9BY14-2	TX101_HUMAN;.	Q	236;231	ENSP00000253435:R236Q	ENSP00000253435:R236Q	R	+	2	0	TEX101	48614292	0.253000	0.23982	0.900000	0.35374	0.005000	0.04900	1.054000	0.30455	2.659000	0.90383	0.563000	0.77884	CGA		0.498	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	NM_031451		54	87	54	87
WARS2	10352	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	119576827	119576827	+	Silent	SNP	G	G	A	rs199831668		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:119576827G>A	ENST00000235521.4	-	5	551	c.525C>T	c.(523-525)caC>caT	p.H175H	WARS2_ENST00000369426.5_Silent_p.H175H|WARS2_ENST00000537870.1_Silent_p.H81H	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	175					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.H175H(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CAACAGGAACGTGTGTGGACC	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		18960	0.0		0.001	False		,,,				2504	0.0															2	Substitution - coding silent(2)	prostate(2)						G	,	0,4406		0,0,2203	116.0	108.0	111.0		525,525	4.8	1.0	1		111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	WARS2	NM_015836.3,NM_201263.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	175/361,175/221	119576827	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10352			BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.525C>T	1.37:g.119576827G>A			B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Silent	SNP	ENST00000235521.4	37	CCDS900.1																																																																																				0.433	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		30	57	30	57
CD1B	910	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	158298792	158298792	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:158298792G>A	ENST00000368168.3	-	5	1006	c.899C>T	c.(898-900)tCc>tTc	p.S300F		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	300					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGAGCCAATGGAGGTGGGGTT	0.463																																																0													98.0	88.0	92.0					1																	158298792		2203	4300	6503	SO:0001583	missense	910			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.899C>T	1.37:g.158298792G>A	ENSP00000357150:p.Ser300Phe		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	G	9.536	1.112149	0.20795	.	.	ENSG00000158485	ENST00000368168	T	0.01613	4.73	4.26	0.948	0.19561	MHC class I-like antigen recognition (1);	0.500668	0.17058	N	0.188670	T	0.01800	0.0057	M	0.74258	2.255	0.09310	N	1	P;P	0.48998	0.918;0.917	P;P	0.49999	0.529;0.628	T	0.42224	-0.9464	10	0.48119	T	0.1	-13.7607	9.4644	0.38804	0.0:0.0:0.4354:0.5646	.	300;245	P29016;P29016-2	CD1B_HUMAN;.	F	300	ENSP00000357150:S300F	ENSP00000357150:S300F	S	-	2	0	CD1B	156565416	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.434000	0.21494	0.501000	0.28013	0.655000	0.94253	TCC		0.463	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		18	44	18	44
ARHGAP30	257106	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	161019353	161019353	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:161019353G>A	ENST00000368013.3	-	11	1867	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.S339L|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.S516L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	516					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.S516L(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGAGCTGCTTGAGTCCTCTAG	0.647																																																2	Substitution - Missense(2)	endometrium(2)											76.0	78.0	77.0					1																	161019353		2203	4300	6503	SO:0001583	missense	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.1547C>T	1.37:g.161019353G>A	ENSP00000356992:p.Ser516Leu		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252886	0.22965	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	T;T;T	0.31247	3.07;3.03;1.5	5.18	3.28	0.37604	.	0.168717	0.28538	N	0.015000	T	0.08268	0.0206	L	0.42245	1.32	0.24767	N	0.992891	B;B	0.12013	0.005;0.002	B;B	0.12156	0.007;0.003	T	0.19289	-1.0310	10	0.29301	T	0.29	.	3.6753	0.08290	0.2045:0.0:0.5982:0.1972	.	516;516	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	L	516;516;368;339	ENSP00000356995:S516L;ENSP00000356992:S516L;ENSP00000356994:S339L	ENSP00000356992:S516L	S	-	2	0	ARHGAP30	159285977	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.362000	0.34148	1.161000	0.42604	0.555000	0.69702	TCA		0.647	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		71	126	71	126
ADSS	159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	244581040	244581040	+	Silent	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:244581040T>C	ENST00000366535.3	-	10	1276	c.960A>G	c.(958-960)ttA>ttG	p.L320L	ADSS_ENST00000462358.1_5'Flank	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			TTGTTTGTAATAATTCTCCAA	0.363																																																0													85.0	82.0	83.0					1																	244581040		2203	4300	6503	SO:0001819	synonymous_variant	159			BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.960A>G	1.37:g.244581040T>C				Silent	SNP	ENST00000366535.3	37	CCDS1624.1																																																																																				0.363	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		23	28	23	28
VPS16	64601	hgsc.bcm.edu;ucsc.edu	37	20	2844632	2844632	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr20:2844632G>A	ENST00000380445.3	+	16	1586	c.1514G>A	c.(1513-1515)cGa>cAa	p.R505Q	VPS16_ENST00000380443.3_Missense_Mutation_p.R191Q|VPS16_ENST00000380469.3_Missense_Mutation_p.R361Q|VPS16_ENST00000481812.2_3'UTR|PTPRA_ENST00000380393.3_5'Flank	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	505					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GATGTGGCTCGAGCCATTAAC	0.567																																																0													87.0	83.0	85.0					20																	2844632		2203	4300	6503	SO:0001583	missense	64601			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1514G>A	20.37:g.2844632G>A	ENSP00000369810:p.Arg505Gln		Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146454	0.37923	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000380443	T;T;T	0.44482	0.93;0.93;0.92	4.96	4.96	0.65561	.	0.400388	0.28354	N	0.015659	T	0.20780	0.0500	N	0.20766	0.605	0.38392	D	0.945421	B;P;B	0.36048	0.026;0.534;0.026	B;B;B	0.17979	0.006;0.02;0.003	T	0.11743	-1.0575	10	0.23302	T	0.38	-20.2958	9.1713	0.37083	0.0965:0.0:0.9035:0.0	.	191;361;505	Q5JUA8;Q9H269-2;Q9H269	.;.;VPS16_HUMAN	Q	505;361;243;191	ENSP00000369810:R505Q;ENSP00000369836:R361Q;ENSP00000369808:R191Q	ENSP00000369808:R191Q	R	+	2	0	VPS16	2792632	0.952000	0.32445	1.000000	0.80357	0.994000	0.84299	2.859000	0.48364	2.571000	0.86741	0.561000	0.74099	CGA		0.567	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		50	108	50	108
NFATC2	4773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	50091994	50091994	+	Splice_Site	SNP	C	C	T	rs200028027		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr20:50091994C>T	ENST00000396009.3	-	4	1755		c.e4+1		NFATC2_ENST00000609943.1_Splice_Site|NFATC2_ENST00000371564.3_Splice_Site|NFATC2_ENST00000609507.1_Splice_Site|NFATC2_ENST00000610033.1_Splice_Site|NFATC2_ENST00000414705.1_Splice_Site	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2						B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCAGCCCTTACGTTGCCCTCA	0.567																																																0													148.0	153.0	151.0					20																	50091994		2203	4300	6503	SO:0001630	splice_region_variant	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1535+1G>A	20.37:g.50091994C>T			B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Splice_Site	SNP	ENST00000396009.3	37	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448037	0.84101	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8896	0.92392	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NFATC2	49525401	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.711000	0.84669	2.448000	0.82819	0.585000	0.79938	.		0.567	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340	Intron	28	109	28	109
CRYBB2	1415	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	25623853	25623853	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr22:25623853C>T	ENST00000398215.2	+	4	378	c.207C>T	c.(205-207)ggC>ggT	p.G69G		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	69	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						ACTGCAAGGGCGAGCAGTTTG	0.587																																																0													85.0	83.0	83.0					22																	25623853		2203	4300	6503	SO:0001819	synonymous_variant	1415				CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.207C>T	22.37:g.25623853C>T			Q9UCM8	Silent	SNP	ENST00000398215.2	37	CCDS13831.1																																																																																				0.587	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	NM_000496		48	89	48	89
GAS2L1	10634	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	29704343	29704343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr22:29704343G>A	ENST00000406549.3	+	2	398	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	GAS2L1_ENST00000403764.1_Missense_Mutation_p.R83Q|GAS2L1_ENST00000341313.6_Missense_Mutation_p.R83Q|GAS2L1_ENST00000360113.2_Missense_Mutation_p.R83Q|GAS2L1_ENST00000407854.1_Missense_Mutation_p.R83Q|GAS2L1_ENST00000407647.2_Missense_Mutation_p.R83Q|GAS2L1_ENST00000471961.1_Missense_Mutation_p.R83Q	NM_001278730.1	NP_001265659.1	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	83	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell cycle arrest (GO:0007050)|cellular response to starvation (GO:0009267)|cellular response to thyroid hormone stimulus (GO:0097067)|microtubule bundle formation (GO:0001578)|negative regulation of cell growth (GO:0030308)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of gene expression (GO:0010629)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)|thyroid hormone receptor binding (GO:0046966)			endometrium(2)|lung(2)|prostate(1)	5						CGCCCGGCCCGAGGTGTGGCC	0.692																																																0													17.0	18.0	18.0					22																	29704343		2196	4293	6489	SO:0001583	missense	10634			BC001782	CCDS63438.1, CCDS74840.1	22q12.2	2008-06-11			ENSG00000185340	ENSG00000185340			16955	protein-coding gene	gene with protein product		602128				8975699, 12584248, 1607387	Standard	NM_001278730		Approved	GAR22	uc003afc.1	Q99501	OTTHUMG00000151108	ENST00000406549.3:c.248G>A	22.37:g.29704343G>A	ENSP00000383995:p.Arg83Gln		B5MCR7|Q53EN7|Q92640|Q9BUY9	Missense_Mutation	SNP	ENST00000406549.3	37		.	.	.	.	.	.	.	.	.	.	G	15.04	2.715292	0.48622	.	.	ENSG00000185340	ENST00000407647;ENST00000416823;ENST00000428622;ENST00000333679;ENST00000406549;ENST00000360113;ENST00000341313;ENST00000403764;ENST00000471961;ENST00000407854	T;T;T;T;T;T;T	0.50277	0.75;0.82;0.84;0.84;0.75;0.75;0.75	4.61	3.56	0.40772	Calponin homology domain (5);	0.161371	0.37906	N	0.001896	T	0.53997	0.1831	M	0.64404	1.975	0.09310	N	1	D;P;D;D	0.63880	0.992;0.863;0.993;0.993	P;B;P;P	0.57009	0.617;0.223;0.811;0.811	T	0.43163	-0.9408	10	0.37606	T	0.19	-3.8907	7.0679	0.25161	0.1074:0.1726:0.72:0.0	.	83;83;83;83	B5MCR7;E7EQM6;A0A5E8;Q99501	.;.;.;GA2L1_HUMAN	Q	83	ENSP00000385554:R83Q;ENSP00000383995:R83Q;ENSP00000353229:R83Q;ENSP00000344012:R83Q;ENSP00000385358:R83Q;ENSP00000450152:R83Q;ENSP00000385023:R83Q	ENSP00000332834:R83Q	R	+	2	0	GAS2L1	28034343	0.000000	0.05858	0.322000	0.25334	0.738000	0.42128	0.097000	0.15168	0.841000	0.35020	0.491000	0.48974	CGA		0.692	GAS2L1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321365.1	NM_006478		7	25	7	25
RSAD2	91543	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	7027291	7027291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr2:7027291G>A	ENST00000382040.3	+	3	870	c.734G>A	c.(733-735)tGg>tAg	p.W245*	RSAD2_ENST00000541728.1_Nonsense_Mutation_p.W138*	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CCTGTCCGCTGGAAAGTAAGT	0.378																																																0													52.0	49.0	50.0					2																	7027291		2203	4300	6503	SO:0001587	stop_gained	91543			AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.734G>A	2.37:g.7027291G>A	ENSP00000371471:p.Trp245*			Nonsense_Mutation	SNP	ENST00000382040.3	37	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	G	37	6.590467	0.97688	.	.	ENSG00000134321	ENST00000382040;ENST00000541728	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.4912	20.0263	0.97523	0.0:0.0:1.0:0.0	.	.	.	.	X	245;138	.	.	W	+	2	0	RSAD2	6944742	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.265000	0.95647	2.735000	0.93741	0.655000	0.94253	TGG		0.378	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		17	43	17	43
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			28	46	28	46
MORC1	27136	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	108788570	108788570	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr3:108788570A>C	ENST00000483760.1	-	9	767	c.724T>G	c.(724-726)Tct>Gct	p.S242A	MORC1_ENST00000232603.5_Missense_Mutation_p.S242A					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TACAGAACAGATGTGTAGGCT	0.378																																																0													104.0	101.0	102.0					3																	108788570		2203	4300	6503	SO:0001583	missense	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.724T>G	3.37:g.108788570A>C	ENSP00000417282:p.Ser242Ala			Missense_Mutation	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	A	7.337	0.620138	0.14193	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.73681	-0.77;-0.77	4.93	3.76	0.43208	ATPase-like, ATP-binding domain (1);	0.145347	0.32608	N	0.005871	T	0.59569	0.2203	L	0.38838	1.175	0.28756	N	0.901191	B;B	0.18310	0.025;0.027	B;B	0.19946	0.018;0.027	T	0.45483	-0.9258	10	0.09590	T	0.72	-12.3128	9.2914	0.37789	0.6277:0.3723:0.0:0.0	.	242;242	E7ERX1;Q86VD1	.;MORC1_HUMAN	A	242	ENSP00000232603:S242A;ENSP00000417282:S242A	ENSP00000232603:S242A	S	-	1	0	MORC1	110271260	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.339000	0.52135	0.985000	0.38656	0.533000	0.62120	TCT		0.378	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			26	41	26	41
SLCO2A1	6578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	133670173	133670173	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr3:133670173A>G	ENST00000310926.4	-	6	1013	c.740T>C	c.(739-741)gTc>gCc	p.V247A	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.V171A	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	247					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GTCACCCGGGACCAAGTTAAC	0.478																																																0													73.0	77.0	75.0					3																	133670173		2203	4300	6503	SO:0001583	missense	6578				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.740T>C	3.37:g.133670173A>G	ENSP00000311291:p.Val247Ala		Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.792388	0.31685	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.37752	1.18;1.18	4.79	2.95	0.34219	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.494108	0.21725	N	0.070075	T	0.14056	0.0340	N	0.03608	-0.345	0.20196	N	0.999923	B;B;B	0.14438	0.01;0.005;0.001	B;B;B	0.17979	0.02;0.006;0.0	T	0.11842	-1.0571	10	0.72032	D	0.01	.	1.939	0.03342	0.1549:0.3724:0.3109:0.1619	.	247;171;247	F8W9W8;E7EU40;Q92959	.;.;SO2A1_HUMAN	A	247;171	ENSP00000311291:V247A;ENSP00000418893:V171A	ENSP00000311291:V247A	V	-	2	0	SLCO2A1	135152863	1.000000	0.71417	0.998000	0.56505	0.749000	0.42624	1.059000	0.30517	0.983000	0.38602	-0.505000	0.04504	GTC		0.478	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		15	56	15	56
ENPEP	2028	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	111397844	111397844	+	Nonsense_Mutation	SNP	C	C	T	rs143343563		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:111397844C>T	ENST00000265162.5	+	1	616	c.274C>T	c.(274-276)Cga>Tga	p.R92*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	92					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GAAAAACTTTCGACTGCCGGA	0.612																																																0													73.0	78.0	76.0					4																	111397844		2203	4300	6503	SO:0001587	stop_gained	2028			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.274C>T	4.37:g.111397844C>T	ENSP00000265162:p.Arg92*		Q504U2	Nonsense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	37	6.060157	0.97246	.	.	ENSG00000138792	ENST00000265162	.	.	.	5.83	1.79	0.24919	.	0.098719	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6881	0.69065	0.6339:0.3661:0.0:0.0	.	.	.	.	X	92	.	ENSP00000265162:R92X	R	+	1	2	ENPEP	111617293	1.000000	0.71417	0.993000	0.49108	0.001000	0.01503	1.799000	0.38824	0.461000	0.27071	-0.397000	0.06425	CGA		0.612	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			16	124	16	124
KIAA1109	84162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	123140536	123140536	+	Silent	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:123140536A>G	ENST00000264501.4	+	21	2662	c.2289A>G	c.(2287-2289)gaA>gaG	p.E763E	KIAA1109_ENST00000455637.1_Silent_p.E763E|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Silent_p.E763E			Q2LD37	K1109_HUMAN	KIAA1109	763					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGATTTTGAAGAGGTTATCT	0.353																																																0													180.0	167.0	171.0					4																	123140536		1842	4087	5929	SO:0001819	synonymous_variant	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2289A>G	4.37:g.123140536A>G			Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	8.399	0.841469	0.16963	.	.	ENSG00000138688	ENST00000424425	.	.	.	5.83	4.65	0.58169	.	.	.	.	.	T	0.59985	0.2234	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56709	-0.7934	4	.	.	.	.	9.43	0.38604	0.8079:0.0:0.1921:0.0	.	.	.	.	G	596	.	.	R	+	1	2	KIAA1109	123359986	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.148000	0.50647	1.038000	0.40049	0.533000	0.62120	AGA		0.353	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		67	115	67	115
JADE1	79960	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	129782915	129782915	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:129782915C>T	ENST00000226319.6	+	9	1318	c.1038C>T	c.(1036-1038)ggC>ggT	p.G346G	PHF17_ENST00000511647.1_Silent_p.G346G|PHF17_ENST00000512960.1_Silent_p.G346G|PHF17_ENST00000452328.2_Silent_p.G334G|PHF17_ENST00000413543.2_Silent_p.G346G	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TTGACCGGGGCCTGGAGATGA	0.478																																																0													98.0	104.0	102.0					4																	129782915		2203	4300	6503	SO:0001819	synonymous_variant	79960																														ENST00000226319.6:c.1038C>T	4.37:g.129782915C>T				Silent	SNP	ENST00000226319.6	37	CCDS34062.1																																																																																				0.478	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			61	116	61	116
MAP3K1	4214	hgsc.bcm.edu;broad.mit.edu	37	5	56178277	56178277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr5:56178277G>A	ENST00000399503.3	+	14	3250	c.3250G>A	c.(3250-3252)Gat>Aat	p.D1084N		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1084					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CATGACACTTGATCTGAACAG	0.453																																																0													103.0	94.0	97.0					5																	56178277		1930	4132	6062	SO:0001583	missense	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3250G>A	5.37:g.56178277G>A	ENSP00000382423:p.Asp1084Asn			Missense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751049	0.49257	.	.	ENSG00000095015	ENST00000399503	T	0.70399	-0.48	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	L	0.56769	1.78	0.58432	D	0.999995	B	0.21606	0.058	B	0.14578	0.011	T	0.60885	-0.7174	10	0.32370	T	0.25	.	14.344	0.66646	0.0704:0.0:0.9295:0.0	.	1084	Q13233	M3K1_HUMAN	N	1084	ENSP00000382423:D1084N	ENSP00000382423:D1084N	D	+	1	0	MAP3K1	56214034	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	6.402000	0.73260	2.778000	0.95560	0.655000	0.94253	GAT		0.453	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		6	77	6	77
CARD11	84433	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	2954958	2954958	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:2954958G>A	ENST00000396946.4	-	21	3155	c.2752C>T	c.(2752-2754)Cgg>Tgg	p.R918W		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	918					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ATGCGGACCCGCTCGTTGCTG	0.592			Mis		DLBCL																																		Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	0													89.0	81.0	84.0					7																	2954958		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2752C>T	7.37:g.2954958G>A	ENSP00000380150:p.Arg918Trp		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999505	0.54147	.	.	ENSG00000198286	ENST00000396946	T	0.34667	1.35	4.67	3.79	0.43588	.	0.000000	0.64402	D	0.000001	T	0.38268	0.1034	N	0.08118	0	0.53688	D	0.999976	D	0.89917	1.0	D	0.66979	0.948	T	0.44467	-0.9326	10	0.87932	D	0	-26.6899	14.2337	0.65911	0.0:0.0:0.8488:0.1512	.	918	Q9BXL7	CAR11_HUMAN	W	918	ENSP00000380150:R918W	ENSP00000380150:R918W	R	-	1	2	CARD11	2921484	1.000000	0.71417	0.976000	0.42696	0.678000	0.39670	3.816000	0.55658	0.396000	0.25283	-1.656000	0.00753	CGG		0.592	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		37	86	37	86
FKBP6	8468	hgsc.bcm.edu;broad.mit.edu	37	7	72755293	72755293	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:72755293T>C	ENST00000252037.4	+	7	874	c.805T>C	c.(805-807)Tat>Cat	p.Y269H	RNU6-1080P_ENST00000383982.1_RNA|FKBP6_ENST00000431982.2_Missense_Mutation_p.Y264H|FKBP6_ENST00000413573.2_Missense_Mutation_p.Y239H	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	269					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCTGACTGAGTATCAAAAGGC	0.463																																																0													127.0	125.0	126.0					7																	72755293		1840	4096	5936	SO:0001583	missense	8468			AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.805T>C	7.37:g.72755293T>C	ENSP00000252037:p.Tyr269His		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814482	0.70912	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	4.79	4.79	0.61399	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.196783	0.45606	D	0.000342	D	0.86381	0.5919	M	0.76433	2.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.99;0.994	D	0.86775	0.1975	10	0.49607	T	0.09	-15.0041	12.0901	0.53722	0.0:0.0:0.0:1.0	.	264;269;239	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	H	264;224;239;269	ENSP00000416277:Y264H;ENSP00000402360:Y224H;ENSP00000394952:Y239H;ENSP00000252037:Y269H	ENSP00000252037:Y269H	Y	+	1	0	FKBP6	72393229	1.000000	0.71417	0.993000	0.49108	0.889000	0.51656	5.634000	0.67833	1.796000	0.52611	0.460000	0.39030	TAT		0.463	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		25	319	25	319
AKAP9	10142	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	91631134	91631134	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:91631134G>T	ENST00000359028.2	+	9	2164	c.1939G>T	c.(1939-1941)Gaa>Taa	p.E647*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.E635*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.E647*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	647	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAGTCACGAAGAAGAGCTTTC	0.328			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													53.0	57.0	56.0					7																	91631134		2202	4300	6502	SO:0001587	stop_gained	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1939G>T	7.37:g.91631134G>T	ENSP00000351922:p.Glu647*		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	G	39	7.888651	0.98545	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	.	.	.	5.49	5.49	0.81192	.	0.000000	0.42964	D	0.000636	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.7885	0.96447	0.0:0.0:1.0:0.0	.	.	.	.	X	635;647;647;647;647	.	ENSP00000348573:E635X	E	+	1	0	AKAP9	91469070	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.775000	0.98995	2.758000	0.94735	0.650000	0.86243	GAA		0.328	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		48	65	48	65
GJC3	349149	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	99526519	99526519	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:99526519T>G	ENST00000312891.2	-	1	724	c.725A>C	c.(724-726)aAg>aCg	p.K242T	RP4-604G5.1_ENST00000456499.1_RNA	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	242					cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGTTGCTTTCTTGTGTCTTCT	0.483																																																0													126.0	124.0	125.0					7																	99526519		2203	4300	6503	SO:0001583	missense	349149			AF503615	CCDS34697.1	7q22.1	2008-09-04	2007-11-06	2007-11-06	ENSG00000176402	ENSG00000176402		"""Ion channels / Gap junction proteins (connexins)"""	17495	protein-coding gene	gene with protein product	"""connexin 30.2"""	611925	"""gap junction protein, epsilon 1, 29kDa"""	GJE1			Standard	NM_181538		Approved	CX30.2	uc011kjd.2	Q8NFK1	OTTHUMG00000156649	ENST00000312891.2:c.725A>C	7.37:g.99526519T>G	ENSP00000325775:p.Lys242Thr		A4D296|Q86XI9	Missense_Mutation	SNP	ENST00000312891.2	37	CCDS34697.1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.287759	0.23478	.	.	ENSG00000176402	ENST00000312891	D	0.98012	-4.66	4.01	2.85	0.33270	.	1.407500	0.04933	N	0.457191	D	0.93831	0.8027	N	0.08118	0	0.09310	N	1	P	0.52316	0.952	P	0.46585	0.521	D	0.90082	0.4171	10	0.35671	T	0.21	.	6.32	0.21213	0.0:0.1121:0.0:0.8879	.	242	Q8NFK1	CXG3_HUMAN	T	242	ENSP00000325775:K242T	ENSP00000325775:K242T	K	-	2	0	GJC3	99364455	0.113000	0.22115	0.025000	0.17156	0.036000	0.12997	0.959000	0.29240	0.875000	0.35847	0.533000	0.62120	AAG		0.483	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345052.1	NM_181538		21	75	21	75
SLC39A4	55630	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	145639357	145639357	+	Silent	SNP	C	C	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr8:145639357C>G	ENST00000301305.3	-	7	1377	c.1272G>C	c.(1270-1272)ctG>ctC	p.L424L	SLC39A4_ENST00000531013.1_5'Flank|SLC39A4_ENST00000276833.5_Silent_p.L399L	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	424					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GGTCCCTGGGCAGCAGGAGAT	0.652																																																0													17.0	18.0	18.0					8																	145639357		2198	4283	6481	SO:0001819	synonymous_variant	55630			AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1272G>C	8.37:g.145639357C>G			Q7L5S5|Q9H6T8|Q9NXC4	Silent	SNP	ENST00000301305.3	37	CCDS6424.1																																																																																				0.652	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			17	11	17	11
ZNF711	7552	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	84525047	84525047	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:84525047A>G	ENST00000373165.3	+	8	1309	c.1003A>G	c.(1003-1005)Aca>Gca	p.T335A	ZNF711_ENST00000542798.1_Missense_Mutation_p.T177A|ZNF711_ENST00000276123.3_Missense_Mutation_p.T335A|ZNF711_ENST00000360700.4_Missense_Mutation_p.T381A|ZNF711_ENST00000395402.1_Missense_Mutation_p.T343A	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	335					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CAGAAGTAGTACAGCAGCACA	0.348																																																0													96.0	91.0	93.0					X																	84525047		2203	4300	6503	SO:0001583	missense	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1003A>G	X.37:g.84525047A>G	ENSP00000362260:p.Thr335Ala		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.684776	0.29872	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	4.73	4.73	0.59995	Transcriptional activator, Zfx / Zfy domain (1);	0.169262	0.27531	U	0.018944	T	0.32496	0.0831	N	0.26042	0.785	0.30675	N	0.752948	B;B	0.15930	0.015;0.0	B;B	0.18561	0.022;0.001	T	0.25187	-1.0139	10	0.27785	T	0.31	-9.1924	8.9943	0.36043	0.8327:0.0:0.0:0.1673	.	381;335	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	A	343;335;335;381;177	ENSP00000378798:T343A;ENSP00000362260:T335A;ENSP00000276123:T335A;ENSP00000353922:T381A;ENSP00000442071:T177A	ENSP00000276123:T335A	T	+	1	0	ZNF711	84411703	1.000000	0.71417	0.983000	0.44433	0.975000	0.68041	4.746000	0.62133	1.547000	0.49401	0.451000	0.29950	ACA		0.348	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		21	60	21	60
DCAF12L2	340578	hgsc.bcm.edu;broad.mit.edu	37	X	125298904	125298904	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:125298904C>G	ENST00000360028.2	-	1	1030	c.1004G>C	c.(1003-1005)cGc>cCc	p.R335P	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R335P			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	335								p.R335H(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTGGCGCTGGCGCGGATCCAG	0.627																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											58.0	62.0	61.0					X																	125298904		2203	4300	6503	SO:0001583	missense	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1004G>C	X.37:g.125298904C>G	ENSP00000353128:p.Arg335Pro		B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568803	0.65765	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.66995	-0.24;-0.24	4.05	4.05	0.47172	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.33057	N	0.005338	T	0.81654	0.4868	M	0.82323	2.585	0.46849	D	0.999223	D	0.89917	1.0	D	0.87578	0.998	D	0.84317	0.0514	10	0.66056	D	0.02	.	13.1427	0.59444	0.0:1.0:0.0:0.0	.	335	Q5VW00	DC122_HUMAN	P	335	ENSP00000441489:R335P;ENSP00000353128:R335P	ENSP00000353128:R335P	R	-	2	0	DCAF12L2	125126585	1.000000	0.71417	0.048000	0.18961	0.813000	0.45954	6.536000	0.73842	2.263000	0.75096	0.544000	0.68410	CGC		0.627	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		11	164	11	164
MAGEA8	4107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	149013642	149013642	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:149013642C>A	ENST00000542674.1	+	3	1117	c.596C>A	c.(595-597)aCg>aAg	p.T199K	MAGEA8_ENST00000535454.1_Missense_Mutation_p.T199K|MAGEA8_ENST00000286482.1_Missense_Mutation_p.T199K	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	199	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GATCAGAGTACGCCCAAGACC	0.592																																																0													74.0	65.0	68.0					X																	149013642		2203	4298	6501	SO:0001583	missense	4107				CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.596C>A	X.37:g.149013642C>A	ENSP00000443776:p.Thr199Lys		Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	12.09	1.834421	0.32421	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.05382	3.45;3.45;3.45	0.963	-0.96	0.10340	.	1.314940	0.04670	N	0.410550	T	0.06416	0.0165	N	0.24115	0.695	0.09310	N	1	P	0.39044	0.656	B	0.43754	0.43	T	0.30707	-0.9969	10	0.87932	D	0	.	3.4106	0.07357	0.0:0.4667:0.0:0.5333	.	199	P43361	MAGA8_HUMAN	K	199	ENSP00000438293:T199K;ENSP00000443776:T199K;ENSP00000286482:T199K	ENSP00000286482:T199K	T	+	2	0	MAGEA8	148774300	0.001000	0.12720	0.022000	0.16811	0.229000	0.25112	0.317000	0.19487	-0.383000	0.07858	0.181000	0.17075	ACG		0.592	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		36	62	36	62
VSIG4	11326	broad.mit.edu;ucsc.edu	37	X	65238753	65238753	+	IGR	SNP	T	T	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:65238753T>G	ENST00000374737.4	-	0	1834				MIR223_ENST00000385204.1_RNA	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4						complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTGACAAGCTGAGTTGGACA	0.532																																																0													50.0	40.0	43.0					X																	65238753		1568	3582	5150	SO:0001628	intergenic_variant	407008			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727		X.37:g.65238753T>G			Q6UXI4	RNA	SNP	ENST00000374737.4	37	CCDS14383.1																																																																																				0.532	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		8	8	8	8
HCFC1	3054	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	153225450	153225450	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:153225450G>C	ENST00000310441.7	-	8	2213	c.1247C>G	c.(1246-1248)cCg>cGg	p.P416R	HCFC1_ENST00000354233.3_Intron|HCFC1_ENST00000369984.4_Missense_Mutation_p.P416R|HCFC1_ENST00000461098.1_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	416	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGATGGGACCGGATTGGGTGT	0.637																																																0													68.0	77.0	74.0					X																	153225450		2065	4171	6236	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.1247C>G	X.37:g.153225450G>C	ENSP00000309555:p.Pro416Arg		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501431	0.85176	.	.	ENSG00000172534	ENST00000310441;ENST00000369984	T;T	0.03152	4.04;4.03	5.39	5.39	0.77823	Fibronectin, type III (1);	0.106899	0.64402	D	0.000005	T	0.09949	0.0244	L	0.50333	1.59	0.80722	D	1	D	0.60575	0.988	P	0.53360	0.724	T	0.07673	-1.0760	10	0.40728	T	0.16	.	16.8686	0.86035	0.0:0.0:1.0:0.0	.	416	P51610	HCFC1_HUMAN	R	416	ENSP00000309555:P416R;ENSP00000359001:P416R	ENSP00000309555:P416R	P	-	2	0	HCFC1	152878644	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.244000	0.95423	2.244000	0.73946	0.600000	0.82982	CCG		0.637	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		35	116	35	116
CTSF	8722	broad.mit.edu;ucsc.edu	37	11	66330634	66330634	+	IGR	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr11:66330634C>T	ENST00000310325.5	-	0	2035				CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGGCCTTCTCCAGTGCCCTCT	0.627																																																0													43.0	46.0	45.0					11																	66330634		1980	4141	6121	SO:0001628	intergenic_variant	89			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66330634C>T			B2R964|O95240|Q9NSU4|Q9UKQ5	RNA	SNP	ENST00000310325.5	37	CCDS8144.1																																																																																				0.627	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		39	43	39	43
VSIG4	11326	broad.mit.edu;ucsc.edu	37	X	65238776	65238776	+	IGR	SNP	G	G	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:65238776G>C	ENST00000374737.4	-	0	1834				MIR223_ENST00000385204.1_RNA	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4						complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCATGTGGTAGAGTGTCAGTT	0.542																																																0													54.0	42.0	46.0					X																	65238776		1568	3581	5149	SO:0001628	intergenic_variant	407008			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727		X.37:g.65238776G>C			Q6UXI4	RNA	SNP	ENST00000374737.4	37	CCDS14383.1																																																																																				0.542	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		8	7	8	7
VSIG4	11326	broad.mit.edu;ucsc.edu	37	X	65238789	65238789	+	IGR	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:65238789T>C	ENST00000374737.4	-	0	1834				MIR223_ENST00000385204.1_RNA	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4						complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGTCAGTTTGTCAAATACCCC	0.542																																																0													50.0	39.0	42.0					X																	65238789		1567	3582	5149	SO:0001628	intergenic_variant	407008			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727		X.37:g.65238789T>C			Q6UXI4	RNA	SNP	ENST00000374737.4	37	CCDS14383.1																																																																																				0.542	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		8	8	8	8
KRT31	3881	broad.mit.edu;ucsc.edu	37	17	39552727	39552727	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:39552727G>A	ENST00000251645.2	-	3	585	c.533C>T	c.(532-534)gCc>gTc	p.A178V		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	178	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CTCCACCTGGGCCTCCAGGTC	0.587																																																0													86.0	74.0	78.0					17																	39552727		2203	4300	6503	SO:0001583	missense	3881			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.533C>T	17.37:g.39552727G>A	ENSP00000251645:p.Ala178Val		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.040891	0.75732	.	.	ENSG00000094796	ENST00000251645	T	0.78003	-1.14	5.11	4.13	0.48395	Filament (1);	0.000000	0.64402	D	0.000004	T	0.81809	0.4901	M	0.86343	2.81	0.29754	N	0.836103	B	0.29341	0.242	B	0.39935	0.314	T	0.77096	-0.2714	10	0.33940	T	0.23	.	9.8878	0.41272	0.1763:0.0:0.8237:0.0	.	178	Q15323	K1H1_HUMAN	V	178	ENSP00000251645:A178V	ENSP00000251645:A178V	A	-	2	0	KRT31	36806253	0.002000	0.14202	0.994000	0.49952	0.998000	0.95712	0.626000	0.24492	1.263000	0.44181	0.655000	0.94253	GCC		0.587	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		27	63	27	63
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76778782	76778782	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:76778782delA	ENST00000373344.5	-	31	7011	c.6797delT	c.(6796-6798)ttgfs	p.L2266fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.L2228fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2266	Interaction with MECP2.				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)			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						TTCTTCAGTCAACTCTTCTTC	0.373			"""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	0													247.0	202.0	217.0					X																	76778782		2203	4296	6499	SO:0001589	frameshift_variant	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.6797delT	X.37:g.76778782delA	ENSP00000362441:p.Leu2266fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		48	147	48	147
