#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
TLL2	7093	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	98129891	98129891	+	Silent	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr10:98129891G>A	ENST00000357947.3	-	20	3069	c.2844C>T	c.(2842-2844)taC>taT	p.Y948Y		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	948	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCATGTAGTCGTAGCCGCAGT	0.667																																																0													72.0	62.0	66.0					10																	98129891		2203	4300	6503	SO:0001819	synonymous_variant	7093			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2844C>T	10.37:g.98129891G>A			A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	CCDS7449.1																																																																																				0.667	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			11	84	11	84
OR5I1	10798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	55703053	55703053	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:55703053A>G	ENST00000301532.3	-	1	823	c.824T>C	c.(823-825)aTt>aCt	p.I275T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	275					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CACTGAGATAATTTTATCAGT	0.408																																																0													72.0	71.0	71.0					11																	55703053		2201	4295	6496	SO:0001583	missense	10798			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.824T>C	11.37:g.55703053A>G	ENSP00000301532:p.Ile275Thr		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.332049	0.41297	.	.	ENSG00000167825	ENST00000301532	T	0.00158	8.65	5.16	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.320352	0.22964	N	0.053509	T	0.00144	0.0004	L	0.39020	1.185	0.09310	N	1	P	0.36354	0.549	B	0.34536	0.185	T	0.31392	-0.9945	10	0.62326	D	0.03	.	9.2349	0.37459	0.913:0.0:0.087:0.0	.	275	Q13606	OR5I1_HUMAN	T	275	ENSP00000301532:I275T	ENSP00000301532:I275T	I	-	2	0	OR5I1	55459629	0.001000	0.12720	0.358000	0.25811	0.964000	0.63967	1.290000	0.33319	0.898000	0.36418	0.523000	0.50628	ATT		0.408	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		16	29	16	29
LRRC55	219527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	56949447	56949447	+	Missense_Mutation	SNP	A	A	G	rs548464910	byFrequency	TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:56949447A>G	ENST00000497933.1	+	1	227	c.80A>G	c.(79-81)gAc>gGc	p.D27G		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GATTCCATGGACACAGTCCTC	0.607																																																0													77.0	60.0	66.0					11																	56949447		2201	4296	6497	SO:0001583	missense	219527				CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.80A>G	11.37:g.56949447A>G	ENSP00000419542:p.Asp27Gly		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.344484	0.24339	.	.	ENSG00000183908	ENST00000497933	T	0.60920	0.15	5.19	1.39	0.22231	.	1.390910	0.04845	N	0.441357	T	0.34395	0.0896	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.14282	-1.0478	7	0.16420	T	0.52	.	2.711	0.05174	0.4297:0.352:0.083:0.1353	.	.	.	.	G	27	ENSP00000419542:D27G	ENSP00000419542:D27G	D	+	2	0	LRRC55	56706023	0.002000	0.14202	0.007000	0.13788	0.048000	0.14542	-0.059000	0.11731	0.100000	0.17581	0.533000	0.62120	GAC		0.607	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		11	64	11	64
CASP1	834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	104897057	104897057	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:104897057A>C	ENST00000533400.1	-	9	1178	c.1143T>G	c.(1141-1143)gaT>gaG	p.D381E	CASP1_ENST00000353247.5_Missense_Mutation_p.D65E|CASP1_ENST00000598974.1_Missense_Mutation_p.D381E|CASP1_ENST00000446369.1_Missense_Mutation_p.D240E|CASP1_ENST00000527979.1_Missense_Mutation_p.D344E|CASP1_ENST00000534497.1_Missense_Mutation_p.D240E|CASP1_ENST00000594519.1_Missense_Mutation_p.D240E|CASP1_ENST00000526568.1_Missense_Mutation_p.D288E|CASP1_ENST00000531166.1_Missense_Mutation_p.D65E|CASP1_ENST00000415981.2_Missense_Mutation_p.D65E|CASP1_ENST00000525825.1_Missense_Mutation_p.D360E|CASP1_ENST00000593315.1_Missense_Mutation_p.D360E|CASP1_ENST00000436863.3_Missense_Mutation_p.D381E|CASP1_ENST00000393136.4_Missense_Mutation_p.D360E	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	381					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	GCGCTCTACCATCTGGCTGCT	0.393																																					NSCLC(41;1246 1743 4934)											0													80.0	80.0	80.0					11																	104897057		2202	4298	6500	SO:0001583	missense	834			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.1143T>G	11.37:g.104897057A>C	ENSP00000433138:p.Asp381Glu		B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	9.573	1.121466	0.20877	.	.	ENSG00000137752	ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000415981;ENST00000446369;ENST00000353247;ENST00000393136;ENST00000525825;ENST00000531166;ENST00000534497	T;T;T;T;T;T;T;T;T;T;T	0.42131	4.0;4.0;4.0;4.0;0.98;0.98;0.98;4.0;4.0;0.98;0.98	4.2	-7.78	0.01223	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	1.337980	0.04975	N	0.464539	T	0.27663	0.0680	M	0.64260	1.97	0.09310	N	1	B;B;B;B;B;B	0.17268	0.021;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.20184	0.028;0.004;0.0;0.0;0.0;0.001	T	0.36529	-0.9744	10	0.08179	T	0.78	.	0.5261	0.00620	0.1943:0.2523:0.2745:0.2789	.	65;240;360;381;344;288	P29466-5;P29466-4;P29466-2;P29466;G3V169;P29466-3	.;.;.;CASP1_HUMAN;.;.	E	288;344;381;381;65;240;65;360;360;65;240	ENSP00000434250:D288E;ENSP00000432340:D344E;ENSP00000433138:D381E;ENSP00000410076:D381E;ENSP00000408446:D65E;ENSP00000403260:D240E;ENSP00000344132:D65E;ENSP00000376844:D360E;ENSP00000434779:D360E;ENSP00000434303:D65E;ENSP00000436875:D240E	ENSP00000344132:D65E	D	-	3	2	CASP1	104402267	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.369000	0.07533	-1.203000	0.02652	0.377000	0.23210	GAT		0.393	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		8	84	8	84
CLEC12A	160364	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	10131591	10131591	+	Missense_Mutation	SNP	C	C	T	rs141455664		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:10131591C>T	ENST00000304361.4	+	2	300	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40C|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50C|CLEC12A_ENST00000350667.4_Intron	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TCATGTATGGCGTCCAGCAGC	0.433													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16812	0.0		0.0	False		,,,				2504	0.0				Melanoma(197;1487 2125 16611 22221 34855)											0								C	CYS/ARG,CYS/ARG,	0,4406		0,0,2203	207.0	192.0	197.0		148,118,	2.7	0.0	12	dbSNP_134	197	2,8598	1.2+/-3.3	0,2,4298	yes	missense,missense,intron	CLEC12A	NM_001207010.1,NM_138337.5,NM_201623.3	180,180,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,	50/276,40/266,	10131591	2,13004	2203	4300	6503	SO:0001583	missense	160364			AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.118C>T	12.37:g.10131591C>T	ENSP00000302804:p.Arg40Cys		B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	ENST00000304361.4	37	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.584844	0.28268	0.0	2.33E-4	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319	T;T;T;T	0.09163	4.41;3.01;4.43;3.88	4.58	2.69	0.31865	.	.	.	.	.	T	0.13586	0.0329	M	0.84219	2.685	0.19945	N	0.999945	B;B	0.33549	0.293;0.417	B;B	0.25759	0.029;0.063	T	0.15178	-1.0446	9	0.44086	T	0.13	.	6.7049	0.23244	0.0:0.718:0.1808:0.1011	.	40;50	Q5QGZ9;Q5QGZ9-1	CL12A_HUMAN;.	C	50;40;40;40	ENSP00000347916:R50C;ENSP00000379764:R40C;ENSP00000302804:R40C;ENSP00000405244:R40C	ENSP00000302804:R40C	R	+	1	0	CLEC12A	10022858	0.025000	0.19082	0.018000	0.16275	0.008000	0.06430	0.136000	0.15974	0.591000	0.29711	0.650000	0.86243	CGT		0.433	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		46	73	46	73
SRRM4	84530	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	119592158	119592158	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:119592158C>T	ENST00000267260.4	+	12	1890	c.1502C>T	c.(1501-1503)cCg>cTg	p.P501L		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	501	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGAGACTCCCCGAGCCACCTG	0.632																																																0													15.0	20.0	18.0					12																	119592158		1850	4084	5934	SO:0001583	missense	84530			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1502C>T	12.37:g.119592158C>T	ENSP00000267260:p.Pro501Leu		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393584	0.96009	.	.	ENSG00000139767	ENST00000267260	T	0.77358	-1.09	5.34	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	L	0.59436	1.845	0.80722	D	1	P	0.37061	0.58	B	0.31245	0.126	T	0.70022	-0.4986	9	.	.	.	-17.5405	14.0005	0.64431	0.0:0.9267:0.0:0.0733	.	501	A7MD48	SRRM4_HUMAN	L	501	ENSP00000267260:P501L	.	P	+	2	0	SRRM4	118076541	1.000000	0.71417	0.911000	0.35937	0.965000	0.64279	7.296000	0.78790	1.256000	0.44068	0.655000	0.94253	CCG		0.632	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		18	19	18	19
NEMF	9147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	50269393	50269393	+	Silent	SNP	A	A	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr14:50269393A>C	ENST00000298310.5	-	21	2417	c.1968T>G	c.(1966-1968)ctT>ctG	p.L656L	NEMF_ENST00000546046.1_Silent_p.L635L|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Silent_p.L614L			O60524	NEMF_HUMAN	nuclear export mediator factor	656					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GTACCTTAAAAAGGAAGCTAA	0.318																																																0													54.0	55.0	55.0					14																	50269393		2203	4300	6503	SO:0001819	synonymous_variant	9147			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.1968T>G	14.37:g.50269393A>C			A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Silent	SNP	ENST00000298310.5	37	CCDS9694.1																																																																																				0.318	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		6	55	6	55
SYNE2	23224	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	64683079	64683079	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr14:64683079T>C	ENST00000344113.4	+	107	19659	c.19447T>C	c.(19447-19449)Tcc>Ccc	p.S6483P	SYNE2_ENST00000554805.1_Missense_Mutation_p.S266P|SYNE2_ENST00000441438.2_Missense_Mutation_p.S14P|SYNE2_ENST00000458046.2_Missense_Mutation_p.S140P|SYNE2_ENST00000357395.3_Missense_Mutation_p.S2868P|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.S3140P|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2868P|SYNE2_ENST00000555022.1_Missense_Mutation_p.S361P|SYNE2_ENST00000554584.1_Missense_Mutation_p.S6425P|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6506P	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6483					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCCCCTGCGTCCAGCACCCC	0.498																																																0													140.0	120.0	127.0					14																	64683079		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19447T>C	14.37:g.64683079T>C	ENSP00000341781:p.Ser6483Pro		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	6.825	0.521373	0.13005	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.57907	0.77;4.05;0.76;0.37;4.12;4.05;3.71;3.23;2.92;2.64	4.99	-1.18	0.09617	.	0.657623	0.12411	N	0.471297	T	0.52837	0.1759	L	0.51422	1.61	0.42139	D	0.991503	D;B;D;D;B;P;P;D	0.59357	0.974;0.082;0.985;0.973;0.005;0.828;0.612;0.973	P;B;P;P;B;B;B;P	0.56916	0.548;0.015;0.809;0.735;0.013;0.299;0.222;0.735	T	0.54754	-0.8246	10	0.40728	T	0.16	.	4.5854	0.12280	0.2939:0.0:0.3658:0.3403	.	140;2868;14;140;871;6425;6483;6506	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	P	6506;2868;6483;6425;6431;3140;2868;361;266;140;14	ENSP00000350719:S6506P;ENSP00000349969:S2868P;ENSP00000341781:S6483P;ENSP00000452570:S6425P;ENSP00000450831:S3140P;ENSP00000378249:S2868P;ENSP00000451009:S361P;ENSP00000450605:S266P;ENSP00000391937:S140P;ENSP00000396794:S14P	ENSP00000261678:S6431P	S	+	1	0	SYNE2	63752832	0.994000	0.37717	0.226000	0.23910	0.366000	0.29705	0.820000	0.27323	-0.064000	0.13043	0.533000	0.62120	TCC		0.498	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		38	51	38	51
CHRNA5	1138	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	78882881	78882881	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr15:78882881G>A	ENST00000299565.5	+	5	1348	c.1148G>A	c.(1147-1149)gGt>gAt	p.G383D	CHRNA5_ENST00000559554.1_Intron|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	383					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	ACTGAGAGTGGTAGTGGACCA	0.438																																																0													94.0	88.0	90.0					15																	78882881		2196	4293	6489	SO:0001583	missense	1138				CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1959	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 5 (neuronal)"""	118505	"""cholinergic receptor, nicotinic, alpha polypeptide 5"""			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.1148G>A	15.37:g.78882881G>A	ENSP00000299565:p.Gly383Asp		Q15824|Q99554	Missense_Mutation	SNP	ENST00000299565.5	37	CCDS10304.1	.	.	.	.	.	.	.	.	.	.	G	9.173	1.021666	0.19433	.	.	ENSG00000169684	ENST00000299565	T	0.70282	-0.47	4.79	-6.89	0.01660	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.556823	0.18707	N	0.133417	T	0.38692	0.1050	N	0.21448	0.665	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41106	-0.9527	10	0.11182	T	0.66	.	0.8921	0.01256	0.1899:0.2398:0.2814:0.289	.	383	P30532	ACHA5_HUMAN	D	383	ENSP00000299565:G383D	ENSP00000299565:G383D	G	+	2	0	CHRNA5	76669936	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.359000	0.07632	-0.989000	0.03485	0.558000	0.71614	GGT		0.438	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290106.1			34	59	34	59
ABR	29	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	915191	915191	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:915191G>A	ENST00000302538.5	-	19	2142	c.1996C>T	c.(1996-1998)Cag>Tag	p.Q666*	ABR_ENST00000291107.2_Nonsense_Mutation_p.Q629*|ABR_ENST00000572441.1_Nonsense_Mutation_p.Q117*|ABR_ENST00000574437.1_Nonsense_Mutation_p.Q620*|ABR_ENST00000543210.2_Nonsense_Mutation_p.Q117*|ABR_ENST00000536794.2_Nonsense_Mutation_p.Q448*|ABR_ENST00000544583.2_Nonsense_Mutation_p.Q620*	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	666	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TCCACACACTGCCGGACGATG	0.652																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)											0													196.0	149.0	165.0					17																	915191		2203	4300	6503	SO:0001587	stop_gained	29			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1996C>T	17.37:g.915191G>A	ENSP00000303909:p.Gln666*		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Nonsense_Mutation	SNP	ENST00000302538.5	37	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	G	41	8.793993	0.98956	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210	.	.	.	5.97	5.97	0.96955	.	0.061224	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.057	0.93069	0.0:0.0:1.0:0.0	.	.	.	.	X	666;620;629;448;117	.	ENSP00000291107:Q629X	Q	-	1	0	ABR	861941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.851000	0.98039	0.644000	0.83932	CAG		0.652	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			55	78	55	78
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577157	7577157	+	Splice_Site	SNP	T	T	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:7577157T>G	ENST00000269305.4	-	8	972		c.e8-2		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	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						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.?(11)|p.0?(8)|p.E258fs*71(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)	AGATTACCACTACTCAGGATA	0.512		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"""	20	Unknown(11)|Whole gene deletion(8)|Deletion - Frameshift(1)	lung(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|urinary_tract(1)|oesophagus(1)|ovary(1)											38.0	35.0	36.0					17																	7577157		2203	4299	6502	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.783-2A>C	17.37:g.7577157T>G			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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.948067	0.34377	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	3.97	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4575	0.50191	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517882	1.000000	0.71417	0.918000	0.36340	0.065000	0.16274	5.431000	0.66507	2.029000	0.59856	0.379000	0.24179	.		0.512	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	11	14	11	14
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:7577574T>C	ENST00000269305.4	-	7	896	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000420246.2_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C	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	236	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)	GTTACACATGTAGTTGTAGTG	0.572		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"""	94	Substitution - Missense(69)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	breast(13)|ovary(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|biliary_tract(6)|stomach(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|urinary_tract(5)|pancreas(5)|prostate(4)|bone(4)|liver(2)|large_intestine(2)|soft_tissue(1)|endometrium(1)	GRCh37	CM004907	TP53	M							126.0	100.0	109.0					17																	7577574		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.707A>G	17.37:g.7577574T>C	ENSP00000269305:p.Tyr236Cys		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	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173261	0.57584	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	4.09	0.528	0.17089	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.335105	0.32884	N	0.005532	D	0.99582	0.9849	M	0.74258	2.255	0.44570	D	0.997534	D;D;D;D;D;D	0.89917	0.998;0.982;1.0;0.998;0.999;1.0	D;P;D;D;D;D	0.81914	0.974;0.898;0.99;0.985;0.992;0.995	D	0.99253	1.0888	10	0.87932	D	0	-12.7522	10.2884	0.43581	0.222:0.0:0.0:0.778	.	236;236;143;236;236;236	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	236;236;236;236;236;236;225;143;104;143	ENSP00000410739:Y236C;ENSP00000352610:Y236C;ENSP00000269305:Y236C;ENSP00000398846:Y236C;ENSP00000391127:Y236C;ENSP00000391478:Y236C;ENSP00000425104:Y104C;ENSP00000423862:Y143C	ENSP00000269305:Y236C	Y	-	2	0	TP53	7518299	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.502000	0.35704	0.034000	0.15491	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		45	40	45	40
HS3ST3A1	9955	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	13400056	13400056	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:13400056C>T	ENST00000284110.1	-	2	1476	c.679G>A	c.(679-681)Gcg>Acg	p.A227T	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.A25T	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	227					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAGATGCGCGCGGGGGCCTCC	0.627																																																0													75.0	95.0	89.0					17																	13400056		2203	4300	6503	SO:0001583	missense	9955			AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.679G>A	17.37:g.13400056C>T	ENSP00000284110:p.Ala227Thr		A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431902	0.62844	.	.	ENSG00000153976	ENST00000284110	T	0.42900	0.96	5.32	5.32	0.75619	Sulfotransferase domain (1);	0.069421	0.56097	U	0.000027	T	0.42291	0.1196	L	0.58428	1.81	0.58432	D	0.999995	B	0.32604	0.377	B	0.27076	0.076	T	0.33317	-0.9873	10	0.42905	T	0.14	.	19.4836	0.95020	0.0:1.0:0.0:0.0	.	227	Q9Y663	HS3SA_HUMAN	T	227	ENSP00000284110:A227T	ENSP00000284110:A227T	A	-	1	0	HS3ST3A1	13340781	0.998000	0.40836	0.998000	0.56505	0.985000	0.73830	3.758000	0.55220	2.873000	0.98535	0.563000	0.77884	GCG		0.627	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		53	177	53	177
SH2D1B	117157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	162381781	162381781	+	Missense_Mutation	SNP	C	C	T	rs564269887		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr1:162381781C>T	ENST00000367929.2	-	1	135	c.26G>A	c.(25-27)cGt>cAt	p.R9H	SH2D1B_ENST00000359567.3_Missense_Mutation_p.R9H|SH2D1B_ENST00000493550.1_5'UTR	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	9	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTTGGTCAGACGTCCATGGTA	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		22717	0.0		0.0	False		,,,				2504	0.001															0													147.0	130.0	136.0					1																	162381781		2203	4300	6503	SO:0001583	missense	117157			AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"""SH2 domain containing"""	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.26G>A	1.37:g.162381781C>T	ENSP00000356906:p.Arg9His		B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	ENST00000367929.2	37	CCDS30928.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521129	0.27211	.	.	ENSG00000198574	ENST00000367929;ENST00000359567	D;D	0.88509	-2.39;-2.39	5.36	3.45	0.39498	SH2 motif (5);	0.592407	0.17321	N	0.178514	T	0.76478	0.3993	N	0.17345	0.48	0.23855	N	0.996651	P;P	0.43857	0.566;0.819	B;P	0.46940	0.121;0.532	T	0.75274	-0.3375	9	0.48119	T	0.1	-0.017	12.0561	0.53536	0.0:0.3569:0.6431:0.0	.	9;9	O14796-2;O14796	.;SH21B_HUMAN	H	9	ENSP00000356906:R9H;ENSP00000352571:R9H	ENSP00000352571:R9H	R	-	2	0	SH2D1B	160648405	0.628000	0.27138	0.982000	0.44146	0.067000	0.16453	0.674000	0.25218	0.783000	0.33636	-0.147000	0.13772	CGT		0.532	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076794.1	NM_053282		10	79	10	79
OR2M3	127062	hgsc.bcm.edu;broad.mit.edu	37	1	248366698	248366698	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr1:248366698C>G	ENST00000456743.1	+	1	367	c.329C>G	c.(328-330)tCt>tGt	p.S110C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGCTTGGCTCTGAGTGCTTT	0.458																																																0													250.0	255.0	254.0					1																	248366698		2203	4300	6503	SO:0001583	missense	127062				CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.329C>G	1.37:g.248366698C>G	ENSP00000389625:p.Ser110Cys		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	5.279	0.236872	0.10023	.	.	ENSG00000228198	ENST00000456743	T	0.01560	4.77	2.44	-4.88	0.03113	GPCR, rhodopsin-like superfamily (1);	0.554792	0.13599	N	0.375981	T	0.01695	0.0054	L	0.45352	1.415	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.38067	-0.9678	10	0.66056	D	0.02	.	6.77	0.23589	0.0:0.4307:0.3871:0.1822	.	110	Q8NG83	OR2M3_HUMAN	C	110	ENSP00000389625:S110C	ENSP00000389625:S110C	S	+	2	0	OR2M3	246433321	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.763000	0.00784	-1.079000	0.03113	-0.491000	0.04670	TCT		0.458	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		22	300	22	300
SSTR3	6753	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	37603530	37603530	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr22:37603530C>T	ENST00000328544.3	-	2	846	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	SSTR3_ENST00000402501.1_Missense_Mutation_p.A105T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	105					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	TAGGACAGGGCGTTCTGGGCG	0.622																																																0													78.0	72.0	74.0					22																	37603530		2203	4300	6503	SO:0001583	missense	6753				CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.313G>A	22.37:g.37603530C>T	ENSP00000330138:p.Ala105Thr		A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529900	0.85706	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.37752	1.18;1.18	5.83	5.83	0.93111	GPCR, rhodopsin-like superfamily (1);	0.069987	0.64402	D	0.000005	T	0.48714	0.1515	L	0.54908	1.71	0.58432	D	0.999999	D	0.56968	0.978	P	0.54210	0.745	T	0.16100	-1.0414	10	0.18710	T	0.47	.	20.1238	0.97972	0.0:1.0:0.0:0.0	.	105	P32745	SSR3_HUMAN	T	105	ENSP00000330138:A105T;ENSP00000384904:A105T	ENSP00000330138:A105T	A	-	1	0	SSTR3	35933476	0.983000	0.35010	0.986000	0.45419	0.904000	0.53231	2.618000	0.46393	2.764000	0.94973	0.557000	0.71058	GCC		0.622	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			54	80	54	80
MPPED1	758	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	43898541	43898541	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr22:43898541C>A	ENST00000417669.2	+	6	1210	c.766C>A	c.(766-768)Ccc>Acc	p.P256T	MPPED1_ENST00000414469.2_Missense_Mutation_p.P150T|MPPED1_ENST00000439548.1_Missense_Mutation_p.P98T|MPPED1_ENST00000538182.1_Missense_Mutation_p.P289T|MPPED1_ENST00000542779.1_Missense_Mutation_p.P256T|MPPED1_ENST00000443721.1_Missense_Mutation_p.P256T			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	256							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GGACTGGGTCCCCAAGAAGAT	0.632																																																0													64.0	76.0	72.0					22																	43898541		2177	4293	6470	SO:0001583	missense	758			U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.766C>A	22.37:g.43898541C>A	ENSP00000388137:p.Pro256Thr		A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	C	7.915	0.737425	0.15574	.	.	ENSG00000186732	ENST00000417669;ENST00000443721;ENST00000545165;ENST00000414469;ENST00000439548;ENST00000542779;ENST00000538182	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	4.27	4.27	0.50696	Metallophosphoesterase domain (1);	.	.	.	.	T	0.27832	0.0685	N	0.10733	0.035	0.80722	D	1	P;B	0.45634	0.863;0.021	B;B	0.43658	0.426;0.011	T	0.08513	-1.0718	9	0.20046	T	0.44	.	17.1345	0.86735	0.0:1.0:0.0:0.0	.	289;256	B7Z2S9;O15442	.;MPPD1_HUMAN	T	256;256;234;150;98;256;289	ENSP00000388137:P256T;ENSP00000400686:P256T;ENSP00000388245:P150T;ENSP00000390379:P98T;ENSP00000444532:P256T;ENSP00000438335:P289T	ENSP00000388245:P150T	P	+	1	0	MPPED1	42229870	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	7.090000	0.76916	2.126000	0.65437	0.399000	0.26434	CCC		0.632	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		17	158	17	158
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			16	53	16	53
SEC61A1	29927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	127786281	127786281	+	Silent	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr3:127786281C>T	ENST00000243253.3	+	10	1177	c.993C>T	c.(991-993)ggC>ggT	p.G331G	RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000424880.2_Silent_p.G211G|SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000464451.1_Silent_p.G337G	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	331					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CTTCTGGGGGCCCAGCACGTG	0.483																																																0													133.0	132.0	132.0					3																	127786281		2203	4300	6503	SO:0001819	synonymous_variant	29927			AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.993C>T	3.37:g.127786281C>T			P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Silent	SNP	ENST00000243253.3	37	CCDS3046.1																																																																																				0.483	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		59	111	59	111
PIK3R4	30849	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	130463923	130463923	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr3:130463923T>C	ENST00000356763.3	-	2	697	c.140A>G	c.(139-141)gAa>gGa	p.E47G		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	47	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GACCAGGCCTTCTCGGTGCTT	0.408																																																0													65.0	67.0	66.0					3																	130463923		2203	4299	6502	SO:0001583	missense	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.140A>G	3.37:g.130463923T>C	ENSP00000349205:p.Glu47Gly		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.428793	0.62844	.	.	ENSG00000196455	ENST00000356763	T	0.06768	3.26	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.11580	0.0282	L	0.33668	1.02	0.80722	D	1	P	0.41008	0.735	P	0.46685	0.524	T	0.14008	-1.0488	10	0.34782	T	0.22	-25.3693	15.0074	0.71524	0.0:0.0:0.0:1.0	.	47	Q99570	PI3R4_HUMAN	G	47	ENSP00000349205:E47G	ENSP00000349205:E47G	E	-	2	0	PIK3R4	131946613	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.968000	0.87980	2.014000	0.59158	0.459000	0.35465	GAA		0.408	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		18	42	18	42
TMEM155	132332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	122681459	122681459	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:122681459T>A	ENST00000337677.5	-	6	941	c.383A>T	c.(382-384)aAg>aTg	p.K128M	TMEM155_ENST00000394396.1_Missense_Mutation_p.K128M|TMEM155_ENST00000394394.1_Missense_Mutation_p.K128M	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	128						extracellular region (GO:0005576)				breast(1)|lung(5)	6						tcagacaatcttgcagatagc	0.403																																																0													70.0	69.0	70.0					4																	122681459		2202	4300	6502	SO:0001583	missense	132332			AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.383A>T	4.37:g.122681459T>A	ENSP00000336987:p.Lys128Met		D3DNW9|Q96NI2	Missense_Mutation	SNP	ENST00000337677.5	37	CCDS3721.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.472352	0.43942	.	.	ENSG00000164112	ENST00000394396;ENST00000337677;ENST00000394394	T;T;T	0.56103	0.48;0.48;0.48	3.94	1.45	0.22620	.	0.173935	0.27447	N	0.019323	T	0.47637	0.1456	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.29912	-0.9996	10	0.87932	D	0	-0.5549	3.9221	0.09248	0.0:0.1135:0.2176:0.669	.	128	Q4W5P6	TM155_HUMAN	M	128	ENSP00000377919:K128M;ENSP00000336987:K128M;ENSP00000377917:K128M	ENSP00000336987:K128M	K	-	2	0	TMEM155	122900909	0.000000	0.05858	0.004000	0.12327	0.766000	0.43426	-0.004000	0.12878	0.324000	0.23333	0.528000	0.53228	AAG		0.403	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256637.2	NM_152399		16	31	16	31
HOXA7	3204	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	27196035	27196035	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr7:27196035C>T	ENST00000242159.3	-	1	263	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	HOXA7_ENST00000523796.2_5'Flank|HOXA-AS3_ENST00000518947.2_RNA|RP1-170O19.21_ENST00000602610.1_lincRNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	44					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						AAGGCGCCGGCGCCCGCCCCG	0.607																																																0													33.0	46.0	42.0					7																	27196035		2188	4295	6483	SO:0001583	missense	3204				CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.130G>A	7.37:g.27196035C>T	ENSP00000242159:p.Ala44Thr		A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	37	CCDS5408.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008030	0.35415	.	.	ENSG00000122592	ENST00000242159	T	0.29917	1.55	5.32	4.44	0.53790	.	0.254677	0.39083	N	0.001473	T	0.18215	0.0437	L	0.31294	0.92	0.46586	D	0.999115	B	0.30605	0.287	B	0.13407	0.009	T	0.06499	-1.0823	10	0.41790	T	0.15	.	7.139	0.25546	0.0:0.7092:0.1414:0.1494	.	44	P31268	HXA7_HUMAN	T	44	ENSP00000242159:A44T	ENSP00000242159:A44T	A	-	1	0	HOXA7	27162560	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	1.686000	0.37669	1.388000	0.46506	-0.258000	0.10820	GCC		0.607	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1			25	160	25	160
LETM2	137994	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	38262000	38262000	+	Silent	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr8:38262000G>A	ENST00000379957.4	+	8	1321	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P	LETM2_ENST00000297720.5_Silent_p.P303P|LETM2_ENST00000523983.2_Silent_p.P351P|LETM2_ENST00000524874.1_Silent_p.P350P|LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000527710.1_Silent_p.P184P|RP11-350N15.3_ENST00000533301.1_RNA	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	398						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			AGCCCAAGCCGATTGAGATAC	0.557																																																0													136.0	115.0	122.0					8																	38262000		2203	4300	6503	SO:0001819	synonymous_variant	137994			AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"""EF-hand domain containing"""	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.1194G>A	8.37:g.38262000G>A			A6NMG3|Q8NCR2|Q96LL1	Silent	SNP	ENST00000379957.4	37		.	.	.	.	.	.	.	.	.	.	G	5.328	0.245762	0.10077	.	.	ENSG00000165046	ENST00000527175	.	.	.	5.46	-9.97	0.00440	.	.	.	.	.	T	0.31918	0.0812	.	.	.	0.53688	D	0.999974	.	.	.	.	.	.	T	0.44436	-0.9328	4	.	.	.	.	1.2094	0.01902	0.1543:0.1768:0.2819:0.387	.	.	.	.	N	24	.	.	D	+	1	0	LETM2	38381157	0.000000	0.05858	0.819000	0.32651	0.559000	0.35586	-3.462000	0.00463	-1.194000	0.02684	-4.012000	0.00013	GAT		0.557	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		11	67	11	67
XKR4	114786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	56436610	56436610	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr8:56436610T>C	ENST00000327381.6	+	3	1877	c.1777T>C	c.(1777-1779)Tca>Cca	p.S593P		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	593						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GATTGAAGAATCAGTCATTAA	0.488																																																0													104.0	101.0	102.0					8																	56436610		2203	4300	6503	SO:0001583	missense	114786			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1777T>C	8.37:g.56436610T>C	ENSP00000328326:p.Ser593Pro		Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	T	0.618	-0.822141	0.02755	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.79554	-1.28	5.82	5.82	0.92795	.	0.055638	0.64402	D	0.000001	T	0.54759	0.1878	N	0.01576	-0.805	0.47374	D	0.999407	B	0.17852	0.024	B	0.15484	0.013	T	0.59936	-0.7360	10	0.02654	T	1	-4.3585	16.1839	0.81934	0.0:0.0:0.0:1.0	.	593	Q5GH76	XKR4_HUMAN	P	593	ENSP00000328326:S593P	ENSP00000328326:S593P	S	+	1	0	XKR4	56599164	1.000000	0.71417	0.980000	0.43619	0.578000	0.36192	4.170000	0.58229	2.222000	0.72286	0.533000	0.62120	TCA		0.488	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		37	73	37	73
FAM154A	158297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	18928550	18928550	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr9:18928550C>T	ENST00000380534.4	-	4	1204	c.925G>A	c.(925-927)Gcc>Acc	p.A309T	FAM154A_ENST00000542071.1_Missense_Mutation_p.A117T|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	309										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GTGTAATGGGCCTGCACTGTT	0.547																																																0													100.0	90.0	94.0					9																	18928550		2203	4300	6503	SO:0001583	missense	158297			BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.925G>A	9.37:g.18928550C>T	ENSP00000369907:p.Ala309Thr		Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	C	0.739	-0.777152	0.02929	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.22539	2.72;1.95	5.09	-3.28	0.05033	.	0.886390	0.09757	N	0.759807	T	0.10035	0.0246	N	0.22421	0.69	0.21861	N	0.999502	B	0.12013	0.005	B	0.16289	0.015	T	0.39781	-0.9597	10	0.13853	T	0.58	-4.8142	4.6369	0.12528	0.6037:0.1572:0.0994:0.1396	.	309	Q8IYX7	F154A_HUMAN	T	309;117	ENSP00000369907:A309T;ENSP00000438823:A117T	ENSP00000369907:A309T	A	-	1	0	FAM154A	18918550	0.002000	0.14202	0.578000	0.28575	0.675000	0.39556	-0.326000	0.07965	-0.933000	0.03737	-0.175000	0.13238	GCC		0.547	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		52	68	52	68
ZNF81	347344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	47774744	47774744	+	Silent	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:47774744T>C	ENST00000376954.1	+	6	1067	c.699T>C	c.(697-699)taT>taC	p.Y233Y	ZNF81_ENST00000338637.7_Silent_p.Y233Y			P51508	ZNF81_HUMAN	zinc finger protein 81	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ACTCTTCTTATAGTCACCACG	0.363																																																0													60.0	58.0	59.0					X																	47774744		1902	4110	6012	SO:0001819	synonymous_variant	347344			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.699T>C	X.37:g.47774744T>C			Q6RX22|Q96QH6	Silent	SNP	ENST00000376954.1	37	CCDS43933.1																																																																																				0.363	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		9	85	9	85
GRIPAP1	56850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	48831681	48831681	+	Silent	SNP	C	C	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:48831681C>G	ENST00000376441.1	-	25	2353	c.2319G>C	c.(2317-2319)ctG>ctC	p.L773L	GRIPAP1_ENST00000376425.3_Silent_p.L742L|GRIPAP1_ENST00000473581.1_5'Flank|GRIPAP1_ENST00000376444.3_Silent_p.L728L	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	773						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GGACGCTGCCCAGCCCGCTGC	0.607																																																0													46.0	37.0	40.0					X																	48831681		2203	4300	6503	SO:0001819	synonymous_variant	56850			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.2319G>C	X.37:g.48831681C>G			A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Silent	SNP	ENST00000376441.1	37	CCDS35248.1																																																																																				0.607	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		22	40	22	40
RGAG4	340526	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	71350423	71350423	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:71350423C>T	ENST00000545866.1	-	1	1335	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	RGAG4_ENST00000609883.1_Missense_Mutation_p.R323Q|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	323										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GATGATATTTCGAACTCCAGG	0.493																																																0													96.0	90.0	92.0					X																	71350423		1926	4133	6059	SO:0001583	missense	340526			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.968G>A	X.37:g.71350423C>T	ENSP00000441366:p.Arg323Gln		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024165	0.54683	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.11712	2.75;2.75	4.13	1.21	0.21127	.	.	.	.	.	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.18610	0.029	B	0.08055	0.003	T	0.44907	-0.9297	8	.	.	.	.	2.9195	0.05764	0.2165:0.5335:0.0:0.25	.	323	Q5HYW3	RGAG4_HUMAN	Q	323	ENSP00000441366:R323Q;ENSP00000418667:R323Q	.	R	-	2	0	RGAG4	71267148	0.000000	0.05858	0.012000	0.15200	0.866000	0.49608	-0.164000	0.09983	0.109000	0.17891	0.600000	0.82982	CGA		0.493	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		66	129	66	129
CSTF2	1478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	100077401	100077401	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:100077401A>T	ENST00000372972.2	+	3	315	c.299A>T	c.(298-300)gAg>gTg	p.E100V	SNORA9_ENST00000365361.1_RNA|CSTF2_ENST00000415585.2_Missense_Mutation_p.E100V	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	100					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AACAAAGAAGAGCTGAAGAGT	0.418																																																0													75.0	68.0	70.0					X																	100077401		2203	4300	6503	SO:0001583	missense	1478			BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.299A>T	X.37:g.100077401A>T	ENSP00000362063:p.Glu100Val		Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	37	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.499920	0.85176	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320;ENST00000413437	T;T;T	0.17213	2.45;2.45;2.29	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	M	0.62209	1.925	0.80722	D	1	B;D;P	0.61697	0.129;0.99;0.777	B;D;P	0.68943	0.273;0.961;0.539	T	0.18241	-1.0343	10	0.72032	D	0.01	-11.9262	14.2464	0.65990	1.0:0.0:0.0:0.0	.	100;100;100	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	V	100;100;100;91	ENSP00000387996:E100V;ENSP00000362063:E100V;ENSP00000415705:E91V	ENSP00000362063:E100V	E	+	2	0	CSTF2	99964057	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.658000	0.91110	1.742000	0.51746	0.486000	0.48141	GAG		0.418	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		21	48	21	48
DRP2	1821	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	100490939	100490939	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:100490939G>A	ENST00000395209.3	+	4	735	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	DRP2_ENST00000538510.1_Missense_Mutation_p.A70T|DRP2_ENST00000541709.1_5'UTR|DRP2_ENST00000402866.1_Missense_Mutation_p.A70T	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	70					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTCTGTTGGTGCCTCTGGACC	0.517																																																0													179.0	144.0	156.0					X																	100490939		2203	4300	6503	SO:0001583	missense	1821			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.208G>A	X.37:g.100490939G>A	ENSP00000378635:p.Ala70Thr		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841892	0.51057	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000538510	T;T;T	0.05786	3.39;3.39;3.39	6.08	4.33	0.51752	.	0.106984	0.41097	N	0.000957	T	0.05868	0.0153	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34775	-0.9815	10	0.20046	T	0.44	-2.0271	10.6803	0.45811	0.1508:0.0:0.8492:0.0	.	70	Q13474	DRP2_HUMAN	T	70	ENSP00000385038:A70T;ENSP00000378635:A70T;ENSP00000441051:A70T	ENSP00000362007:A70T	A	+	1	0	DRP2	100377595	1.000000	0.71417	0.577000	0.28562	0.471000	0.32888	3.245000	0.51407	0.692000	0.31613	-0.191000	0.12829	GCC		0.517	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		103	211	103	211
SERPINA7	6906	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	105280487	105280487	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:105280487A>C	ENST00000327674.4	-	1	898	c.563T>G	c.(562-564)cTa>cGa	p.L188R	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Missense_Mutation_p.L188R			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	188					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GTCTTGAATTAGACCCACAAC	0.413																																																0													163.0	144.0	151.0					X																	105280487		2203	4300	6503	SO:0001583	missense	6906			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.563T>G	X.37:g.105280487A>C	ENSP00000329374:p.Leu188Arg		D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	A	8.101	0.776713	0.16120	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.87966	-2.32;-2.32	4.7	4.7	0.59300	Serpin domain (3);	0.000000	0.56097	D	0.000023	D	0.95268	0.8465	H	0.96604	3.85	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89423	0.3711	10	0.87932	D	0	.	11.2413	0.48970	1.0:0.0:0.0:0.0	.	188	P05543	THBG_HUMAN	R	188	ENSP00000329374:L188R;ENSP00000361644:L188R	ENSP00000329374:L188R	L	-	2	0	SERPINA7	105167143	0.523000	0.26274	0.008000	0.14137	0.080000	0.17528	3.726000	0.54977	1.855000	0.53841	0.481000	0.45027	CTA		0.413	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		60	116	60	116
DOCK11	139818	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	117773444	117773444	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:117773444T>A	ENST00000276202.7	+	38	4111	c.4048T>A	c.(4048-4050)Tcg>Acg	p.S1350T	DOCK11_ENST00000276204.6_Missense_Mutation_p.S1350T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1350					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGACCGAAAATCGCAAACCAT	0.413																																																0													104.0	89.0	94.0					X																	117773444		2203	4300	6503	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4048T>A	X.37:g.117773444T>A	ENSP00000276202:p.Ser1350Thr		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629348	0.67015	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.18810	2.19;2.19	5.26	5.26	0.73747	.	0.222223	0.39274	N	0.001408	T	0.25754	0.0627	M	0.69463	2.115	0.54753	D	0.999984	B;B	0.31989	0.35;0.35	B;B	0.31686	0.134;0.134	T	0.03086	-1.1074	10	0.41790	T	0.15	-5.5694	14.5313	0.67929	0.0:0.0:0.0:1.0	.	1350;1350	A6NIW2;Q5JSL3	.;DOC11_HUMAN	T	1350	ENSP00000276204:S1350T;ENSP00000276202:S1350T	ENSP00000276202:S1350T	S	+	1	0	DOCK11	117657472	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	7.388000	0.79795	1.880000	0.54463	0.381000	0.24937	TCG		0.413	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		17	103	17	103
GPR112	139378	hgsc.bcm.edu;broad.mit.edu	37	X	135428469	135428469	+	Silent	SNP	G	G	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:135428469G>C	ENST00000394143.1	+	6	2895	c.2604G>C	c.(2602-2604)ctG>ctC	p.L868L	GPR112_ENST00000412101.1_Silent_p.L663L|GPR112_ENST00000370652.1_Silent_p.L868L|GPR112_ENST00000287534.4_Silent_p.L805L|GPR112_ENST00000394141.1_Silent_p.L663L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	868					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAACAATGCTGGAAGTGACAG	0.398																																																0													139.0	132.0	134.0					X																	135428469		2203	4300	6503	SO:0001819	synonymous_variant	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2604G>C	X.37:g.135428469G>C			A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	CCDS35409.1																																																																																				0.398	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			22	251	22	251
NAA10	8260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	153195616	153195616	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:153195616T>C	ENST00000464845.1	-	8	850	c.532A>G	c.(532-534)Aac>Gac	p.N178D	NAA10_ENST00000370015.4_3'UTR|NAA10_ENST00000393710.3_5'Flank|NAA10_ENST00000370009.1_Missense_Mutation_p.N163D|NAA10_ENST00000393712.3_3'UTR	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	178					DNA packaging (GO:0006323)|internal protein amino acid acetylation (GO:0006475)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleolus (GO:0005730)|nucleus (GO:0005634)	N-acetyltransferase activity (GO:0008080)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						TCCACCTTGTTCTCGATGGCA	0.627																																					Ovarian(94;1099 1433 38814 45882 51063)											0													123.0	96.0	106.0					X																	153195616		2203	4300	6503	SO:0001583	missense	8260			BC000308	CCDS14737.1, CCDS59179.1	Xq28	2010-05-07	2010-01-14	2010-01-14	ENSG00000102030	ENSG00000102030	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	18704	protein-coding gene	gene with protein product		300013	"""ARD1 homolog, N-acetyltransferase (S. cerevisiae)"", ""ARD1 homolog A, N-acetyltransferase (S. cerevisiae)"""	ARD1, ARD1A		7981673, 19660095	Standard	NM_003491		Approved	DXS707, TE2	uc004fjm.2	P41227	OTTHUMG00000024225	ENST00000464845.1:c.532A>G	X.37:g.153195616T>C	ENSP00000417763:p.Asn178Asp		A6NM98	Missense_Mutation	SNP	ENST00000464845.1	37	CCDS14737.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.083474	0.36758	.	.	ENSG00000102030	ENST00000464845;ENST00000370009	T;T	0.58506	0.33;0.36	4.61	4.61	0.57282	.	0.266832	0.36101	N	0.002793	T	0.48978	0.1530	L	0.46157	1.445	0.36577	D	0.873309	B;B	0.11235	0.002;0.004	B;B	0.06405	0.002;0.002	T	0.52704	-0.8540	10	0.29301	T	0.29	-10.5369	12.1261	0.53917	0.0:0.0:0.0:1.0	.	163;178	A6NM98;P41227	.;NAA10_HUMAN	D	178;163	ENSP00000417763:N178D;ENSP00000359026:N163D	ENSP00000359026:N163D	N	-	1	0	NAA10	152848810	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.523000	0.45580	1.704000	0.51252	0.425000	0.28330	AAC		0.627	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061108.2	NM_003491		74	89	74	89
DNASE1L1	1774	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	153640435	153640435	+	5'Flank	SNP	A	A	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:153640435A>T	ENST00000393638.1	-	0	0				TAZ_ENST00000475699.1_Missense_Mutation_p.H41L|TAZ_ENST00000350743.4_Missense_Mutation_p.H41L|TAZ_ENST00000369776.4_Intron|DNASE1L1_ENST00000369809.1_5'Flank|TAZ_ENST00000351413.4_Missense_Mutation_p.H41L|TAZ_ENST00000299328.5_Missense_Mutation_p.H41L|TAZ_ENST00000369790.4_Missense_Mutation_p.H41L	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1						DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACATGAACCACCTGACCGTG	0.677											OREG0003602	type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													51.0	38.0	42.0					X																	153640435		2198	4298	6496	SO:0001631	upstream_gene_variant	6901			L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188		X.37:g.153640435A>T	Exception_encountered	1757	D3DWW7|Q5HY41	Missense_Mutation	SNP	ENST00000393638.1	37	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.451069	0.26074	.	.	ENSG00000102125	ENST00000369790;ENST00000426834;ENST00000299328;ENST00000350743;ENST00000454722;ENST00000351413;ENST00000439735;ENST00000475699	D;D;D;D;D;D;D;D	0.97352	-3.16;-4.35;-3.16;-3.16;-4.35;-3.16;-3.16;-3.16	4.14	1.6	0.23607	Phospholipid/glycerol acyltransferase (1);	0.208919	0.41712	D	0.000830	D	0.90590	0.7050	N	0.14661	0.345	0.29466	N	0.857439	B;B;B;B;P	0.36354	0.232;0.003;0.007;0.068;0.549	B;B;B;B;B	0.35182	0.103;0.006;0.022;0.062;0.197	D	0.86453	0.1774	10	0.48119	T	0.1	-1.0794	6.3018	0.21117	0.6583:0.0:0.3417:0.0	.	59;41;41;41;41	A6XNE1;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;TAZ_HUMAN	L	41;59;41;41;59;41;41;41	ENSP00000358805:H41L;ENSP00000411182:H59L;ENSP00000299328:H41L;ENSP00000338891:H41L;ENSP00000397388:H59L;ENSP00000218246:H41L;ENSP00000398193:H41L;ENSP00000419854:H41L	ENSP00000299328:H41L	H	+	2	0	TAZ	153293629	0.284000	0.24287	0.999000	0.59377	0.484000	0.33280	0.825000	0.27393	0.347000	0.23924	0.356000	0.21956	CAC		0.677	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2			17	16	17	16
LATS2	26524	broad.mit.edu;ucsc.edu	37	13	21562142	21562142	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr13:21562142G>A	ENST00000382592.4	-	4	2182	c.1777C>T	c.(1777-1779)Cgc>Tgc	p.R593C	LATS2_ENST00000542899.1_Missense_Mutation_p.R593C|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTCTTGATGCGTGACTCTCTC	0.512																																																0													260.0	263.0	262.0					13																	21562142		2203	4300	6503	SO:0001583	missense	26524			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1777C>T	13.37:g.21562142G>A	ENSP00000372035:p.Arg593Cys			Missense_Mutation	SNP	ENST00000382592.4	37	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353182	0.82132	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.56275	0.47;0.47	5.12	5.12	0.69794	.	0.090399	0.47093	D	0.000257	T	0.64853	0.2636	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.66436	-0.5924	10	0.72032	D	0.01	.	13.7424	0.62855	0.0:0.0:0.8464:0.1536	.	593	Q9NRM7	LATS2_HUMAN	C	593	ENSP00000372035:R593C;ENSP00000441817:R593C	ENSP00000372035:R593C	R	-	1	0	LATS2	20460142	1.000000	0.71417	0.933000	0.37362	0.951000	0.60555	5.930000	0.70104	2.691000	0.91804	0.549000	0.68633	CGC		0.512	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			18	107	18	107
OGT	8473	broad.mit.edu;ucsc.edu	37	X	70776956	70776956	+	Splice_Site	SNP	G	G	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:70776956G>T	ENST00000373719.3	+	10	1537		c.e10+1		OGT_ENST00000373701.3_Splice_Site	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase						apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATTCATAAGGTACTACTGTT	0.368																																																0													67.0	55.0	59.0					X																	70776956		2203	4300	6503	SO:0001630	splice_region_variant	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1320+1G>T	X.37:g.70776956G>T			Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Splice_Site	SNP	ENST00000373719.3	37	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635375	0.47049	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4676	0.90761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OGT	70693681	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	9.582000	0.98214	2.557000	0.86248	0.594000	0.82650	.		0.368	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672	Intron	4	33	4	33
CPZ	8532	broad.mit.edu;ucsc.edu	37	4	8603122	8603122	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:8603122G>A	ENST00000360986.4	+	3	568	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.A121T|CPZ_ENST00000429646.2_5'Flank	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	132	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGCCAGCCCGCCTTCGACGC	0.677																																																0																																										SO:0001583	missense	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.394G>A	4.37:g.8603122G>A	ENSP00000354255:p.Ala132Thr		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983583	0.74474	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.80033	-1.33;-1.33	3.41	3.41	0.39046	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.85248	0.5653	L	0.58428	1.81	0.80722	D	1	D;D	0.76494	0.999;0.997	P;P	0.59357	0.854;0.856	D	0.87367	0.2348	10	0.66056	D	0.02	-27.7263	14.9966	0.71436	0.0:0.0:1.0:0.0	.	121;132	Q66K79-2;Q66K79	.;CBPZ_HUMAN	T	132;121	ENSP00000354255:A132T;ENSP00000315074:A121T	ENSP00000315074:A121T	A	+	1	0	CPZ	8654022	1.000000	0.71417	0.863000	0.33907	0.239000	0.25481	6.711000	0.74675	1.714000	0.51371	0.561000	0.74099	GCC		0.677	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		5	10	5	10
