#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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
ATAD3C	219293	broad.mit.edu	37	1	1392509	1392509	+	Splice_Site	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:1392509C>T	ENST00000378785.2	+	8	1685	c.690C>T	c.(688-690)ggC>ggT	p.G230G		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	230							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGTCCACAGCCTCCTGCTCT	0.642																																						uc001aft.2																			0					0						c.(688-690)GGC>GGT		ATPase family, AAA domain containing 3C							74.0	66.0	69.0					1																	1392509		692	1591	2283	SO:0001630	splice_region_variant	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1392509C>T	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.690-1C>T	1.37:g.1392509C>T							p.G230G	NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	8	1685	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	230					Q8N1Z5	Silent	SNP	ENST00000378785.2	37	c.690C>T	CCDS44039.1																																																																																				0.642	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211	Silent
KAZN	23254	broad.mit.edu	37	1	15441012	15441012	+	Missense_Mutation	SNP	G	G	A	rs201963397		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:15441012G>A	ENST00000376030.2	+	15	2503	c.2209G>A	c.(2209-2211)Gat>Aat	p.D737N	TMEM51-AS1_ENST00000310916.3_RNA	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	737					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CAAAGATCCCGATTTCCATGA	0.493																																						uc001avm.3																			0					0						c.(2209-2211)GAT>AAT		kazrin isoform E							76.0	61.0	66.0					1																	15441012		2203	4300	6503	SO:0001583	missense	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15441012G>A	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.2209G>A	1.37:g.15441012G>A	ENSP00000365198:p.Asp737Asn					C1orf126_uc001avv.3_RNA|C1orf126_uc009voh.2_RNA|KAZ_uc001avs.3_Missense_Mutation_p.D184N	p.D737N	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN			15	2490	+			737					B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	c.2209G>A	CCDS152.2	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325729	0.60743	.	.	ENSG00000189337	ENST00000376030	T	0.17528	2.27	5.32	5.32	0.75619	.	0.000000	0.52532	D	0.000074	T	0.26304	0.0642	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.02901	-1.1096	10	0.56958	D	0.05	-23.0468	14.4935	0.67667	0.0:0.0:1.0:0.0	.	737	Q674X7	KAZRN_HUMAN	N	737	ENSP00000365198:D737N	ENSP00000365198:D737N	D	+	1	0	KAZN	15313599	0.999000	0.42202	0.999000	0.59377	0.825000	0.46686	4.861000	0.62969	2.469000	0.83416	0.655000	0.94253	GAT		0.493	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999	
HP1BP3	50809	broad.mit.edu	37	1	21106349	21106349	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:21106349G>A	ENST00000312239.5	-	3	291	c.152C>T	c.(151-153)aCt>aTt	p.T51I	HP1BP3_ENST00000375000.1_Missense_Mutation_p.T51I|HP1BP3_ENST00000487117.1_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	51					nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TTTGGGAGGAGTTTCCCGGGT	0.403																																						uc001bdw.1																			0				central_nervous_system(1)|skin(1)	2						c.(151-153)ACT>ATT		HP1-BP74							86.0	84.0	85.0					1																	21106349		2203	4300	6503	SO:0001583	missense	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21106349G>A	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.152C>T	1.37:g.21106349G>A	ENSP00000312625:p.Thr51Ile					HP1BP3_uc001bdv.1_Missense_Mutation_p.T13I|HP1BP3_uc010odh.1_Missense_Mutation_p.T13I|HP1BP3_uc001bdy.1_Missense_Mutation_p.T51I|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Missense_Mutation_p.T50I|HP1BP3_uc001beb.2_Missense_Mutation_p.T51I	p.T51I	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	3	292	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	51					A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	ENST00000312239.5	37	c.152C>T	CCDS30621.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033460	0.54896	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000438032;ENST00000424732;ENST00000417710;ENST00000375000;ENST00000437575;ENST00000419490;ENST00000414993;ENST00000443615	T;T;T	0.50813	0.73;1.73;1.76	6.02	6.02	0.97574	.	0.186026	0.46758	D	0.000267	T	0.58323	0.2114	N	0.24115	0.695	0.49915	D	0.999834	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.87578	0.998;0.996;0.979	T	0.60939	-0.7163	10	0.87932	D	0	-11.7046	18.7212	0.91694	0.0:0.0:1.0:0.0	.	51;13;51	Q5SSJ5-5;Q5SSJ5-2;Q5SSJ5	.;.;HP1B3_HUMAN	I	51;13;51;13;51;51;13;13;51;13	ENSP00000312625:T51I;ENSP00000403039:T51I;ENSP00000402754:T13I	ENSP00000312625:T51I	T	-	2	0	HP1BP3	20978936	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.069000	0.71209	2.865000	0.98341	0.655000	0.94253	ACT		0.403	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287	
PEX11B	8799	broad.mit.edu	37	1	145517332	145517332	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:145517332C>T	ENST00000369306.3	+	2	265	c.116C>T	c.(115-117)cCt>cTt	p.P39L	GNRHR2_ENST00000312753.5_RNA|PEX11B_ENST00000537888.1_Missense_Mutation_p.P25L	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	39					peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCCAGTCCTGAGTTACAG	0.537																																						uc001eny.1																			0					0						c.(115-117)CCT>CTT		peroxisomal biogenesis factor 11 beta							144.0	125.0	131.0					1																	145517332		2203	4300	6503	SO:0001583	missense	8799				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding	g.chr1:145517332C>T	AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"""peroxisomal biogenesis factor 11B"""			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.116C>T	1.37:g.145517332C>T	ENSP00000358312:p.Pro39Leu					NBPF10_uc001emp.3_Intron|GNRHR2_uc009wiv.1_5'Flank|GNRHR2_uc010oyt.1_5'Flank|GNRHR2_uc001enx.2_5'Flank|PEX11B_uc010oyu.1_Missense_Mutation_p.P25L	p.P39L	NM_003846	NP_003837	O96011	PX11B_HUMAN			2	134	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		39					B3KN85|B4DXH9|Q96ET2	Missense_Mutation	SNP	ENST00000369306.3	37	c.116C>T	CCDS917.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688878	0.68271	.	.	ENSG00000131779	ENST00000369306;ENST00000537888	T;T	0.44482	0.92;0.92	5.06	4.15	0.48705	.	0.055536	0.64402	D	0.000001	T	0.18593	0.0446	L	0.36672	1.1	0.53688	D	0.999979	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08472	-1.0720	10	0.59425	D	0.04	-4.2493	11.0885	0.48102	0.0:0.9105:0.0:0.0895	.	25;39	B4DXH9;O96011	.;PX11B_HUMAN	L	39;25	ENSP00000358312:P39L;ENSP00000437510:P25L	ENSP00000358312:P39L	P	+	2	0	PEX11B	144228689	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	4.181000	0.58303	1.359000	0.45940	0.655000	0.94253	CCT		0.537	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038549.1	NM_003846	
IQGAP3	128239	broad.mit.edu	37	1	156524129	156524129	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:156524129A>G	ENST00000361170.2	-	13	1356	c.1346T>C	c.(1345-1347)cTg>cCg	p.L449P		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	449					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCGGTTAATCAGGACCACAGC	0.622																																						uc001fpf.2																			0				ovary(5)|skin(1)	6						c.(1345-1347)CTG>CCG		IQ motif containing GTPase activating protein 3							44.0	45.0	45.0					1																	156524129		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156524129A>G	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1346T>C	1.37:g.156524129A>G	ENSP00000354451:p.Leu449Pro					IQGAP3_uc009wsb.1_Missense_Mutation_p.L406P	p.L449P	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			13	1421	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		449					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.1346T>C	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383631	0.82792	.	.	ENSG00000183856	ENST00000361170	T	0.14144	2.53	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000011	T	0.28200	0.0696	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.07083	-1.0791	10	0.29301	T	0.29	-10.5994	13.6206	0.62134	1.0:0.0:0.0:0.0	.	449	Q86VI3	IQGA3_HUMAN	P	449	ENSP00000354451:L449P	ENSP00000354451:L449P	L	-	2	0	IQGAP3	154790753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.894000	0.54839	0.459000	0.35465	CTG		0.622	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	
AXDND1	126859	broad.mit.edu	37	1	179460808	179460808	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:179460808C>G	ENST00000367618.3	+	19	2614	c.2227C>G	c.(2227-2229)Cga>Gga	p.R743G		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	743								p.R743*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGGAGTTGCGCGATTGGAGCT	0.413																																						uc001gmo.2																			1	Substitution - Nonsense(1)		large_intestine(1)		0						c.(2227-2229)CGA>GGA		hypothetical protein LOC126859 isoform 1							168.0	162.0	164.0					1																	179460808		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179460808C>G	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2227C>G	1.37:g.179460808C>G	ENSP00000356590:p.Arg743Gly					C1orf125_uc009wxg.2_RNA|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.R743G|C1orf125_uc009wxh.2_RNA	p.R743G	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			19	2354	+			743					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.2227C>G	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629358	0.28978	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.21932	1.98;1.98	5.5	-2.1	0.07210	.	1.326530	0.05005	N	0.469855	T	0.11196	0.0273	N	0.08118	0	0.09310	N	1	B;B	0.20164	0.023;0.042	B;B	0.15484	0.013;0.013	T	0.34750	-0.9816	10	0.51188	T	0.08	-4.0432	7.941	0.29959	0.2199:0.5028:0.2773:0.0	.	701;743	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	G	743;701;677	ENSP00000356590:R743G;ENSP00000391716:R677G	ENSP00000353471:R701G	R	+	1	2	AXDND1	177727431	0.000000	0.05858	0.000000	0.03702	0.169000	0.22640	-0.030000	0.12308	-0.660000	0.05352	0.591000	0.81541	CGA		0.413	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	
F13B	2165	broad.mit.edu	37	1	197021962	197021962	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:197021962G>A	ENST00000367412.1	-	9	1400	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	453	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ACAGTACATGGTTCTGTAAAA	0.259																																						uc001gtt.1																			0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1357-1359)CCA>TCA		coagulation factor XIII B subunit precursor							73.0	76.0	75.0					1																	197021962		2203	4294	6497	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197021962G>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1357C>T	1.37:g.197021962G>A	ENSP00000356382:p.Pro453Ser						p.P453S	NM_001994	NP_001985	P05160	F13B_HUMAN			9	1401	-			453			Sushi 8.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1357C>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051106	0.75960	.	.	ENSG00000143278	ENST00000367412	D	0.92911	-3.13	5.47	5.47	0.80525	Complement control module (1);	0.000000	0.32819	N	0.005617	D	0.93377	0.7888	L	0.39020	1.185	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.90059	0.4155	10	0.12103	T	0.63	.	19.33	0.94281	0.0:0.0:1.0:0.0	.	453	P05160	F13B_HUMAN	S	453	ENSP00000356382:P453S	ENSP00000356382:P453S	P	-	1	0	F13B	195288585	1.000000	0.71417	0.998000	0.56505	0.863000	0.49368	6.450000	0.73477	2.560000	0.86352	0.655000	0.94253	CCA		0.259	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994	
RBP3	5949	broad.mit.edu	37	10	48389610	48389610	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr10:48389610T>A	ENST00000224600.4	-	1	1381	c.1268A>T	c.(1267-1269)cAa>cTa	p.Q423L	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	423	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CACCAGTGCTTGCCGGATAGC	0.627																																						uc001jez.2																			0				large_intestine(1)|central_nervous_system(1)	2						c.(1267-1269)CAA>CTA		retinol-binding protein 3 precursor	Vitamin A(DB00162)						57.0	51.0	53.0					10																	48389610		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389610T>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1268A>T	10.37:g.48389610T>A	ENSP00000224600:p.Gln423Leu						p.Q423L	NM_002900	NP_002891	P10745	RET3_HUMAN			1	1382	-			423			4 X approximate tandem repeats.|2.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1268A>T	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618317	0.28801	.	.	ENSG00000107618	ENST00000224600	T	0.65364	-0.15	5.29	-0.611	0.11601	Interphotoreceptor retinol-binding (1);	0.933522	0.09118	N	0.846124	T	0.56978	0.2022	M	0.76433	2.335	0.09310	N	1	B	0.30937	0.301	B	0.15870	0.014	T	0.48937	-0.8990	10	0.72032	D	0.01	-2.8764	9.1233	0.36799	0.0:0.4082:0.0:0.5918	.	423	P10745	RET3_HUMAN	L	423	ENSP00000224600:Q423L	ENSP00000224600:Q423L	Q	-	2	0	RBP3	48009616	0.002000	0.14202	0.011000	0.14972	0.895000	0.52256	0.339000	0.19875	-0.337000	0.08426	0.459000	0.35465	CAA		0.627	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900	
OR51F1	256892	broad.mit.edu	37	11	4790374	4790374	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:4790374C>T	ENST00000380383.1	-	1	794	c.795G>A	c.(793-795)ctG>ctA	p.L265L	OR51F1_ENST00000343430.3_Silent_p.L258L|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGGACAGGCTCAGCATGTGGA	0.522																																						uc010qyl.1																			0				ovary(1)|skin(1)	2						c.(772-774)CTG>CTA		olfactory receptor, family 51, subfamily F,							99.0	88.0	92.0					11																	4790374		2201	4298	6499	SO:0001819	synonymous_variant	256892					integral to membrane	olfactory receptor activity	g.chr11:4790374C>T	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.795G>A	11.37:g.4790374C>T							p.L258L	NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	774	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	258						Silent	SNP	ENST00000380383.1	37	c.774G>A																																																																																					0.522	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752	
SLC22A25	387601	broad.mit.edu	37	11	62985164	62985164	+	Missense_Mutation	SNP	C	C	T	rs201370159	byFrequency	TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:62985164C>T	ENST00000306494.6	-	3	549	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000403374.2_Missense_Mutation_p.A18T|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CCTACAATGGCGAGCTGGAGG	0.488													C|||	2	0.000399361	0.0	0.0014	5008	,	,		21268	0.0		0.001	False		,,,				2504	0.0					uc001nwr.1																			0				ovary(3)|skin(1)	4						c.(550-552)GCC>ACC		putative UST1-like organic anion transporter							81.0	71.0	74.0					11																	62985164		2201	4298	6499	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62985164C>T	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.550G>A	11.37:g.62985164C>T	ENSP00000307443:p.Ala184Thr					SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.A184T	p.A184T	NM_199352	NP_955384	Q6T423	S22AP_HUMAN			3	550	-			184			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000306494.6	37	c.550G>A	CCDS31592.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.36	2.809386	0.50421	.	.	ENSG00000196600	ENST00000306494;ENST00000403374	T;T	0.74842	0.03;-0.88	3.19	1.17	0.20885	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.206047	0.39274	U	0.001402	T	0.76941	0.4058	M	0.71206	2.165	0.09310	N	1	P;D	0.55385	0.942;0.971	P;P	0.56474	0.799;0.799	T	0.66937	-0.5797	10	0.56958	D	0.05	.	4.482	0.11771	0.0:0.6305:0.2305:0.139	.	182;184	A4IF29;Q6T423	.;S22AP_HUMAN	T	184;18	ENSP00000307443:A184T;ENSP00000384208:A18T	ENSP00000307443:A184T	A	-	1	0	SLC22A25	62741740	0.969000	0.33509	0.002000	0.10522	0.005000	0.04900	3.463000	0.53050	-0.054000	0.13266	-0.399000	0.06403	GCC		0.488	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352	
NLRX1	79671	broad.mit.edu	37	11	119052983	119052983	+	Silent	SNP	C	C	T	rs370591730		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:119052983C>T	ENST00000409109.1	+	9	3122	c.2535C>T	c.(2533-2535)aaC>aaT	p.N845N	NLRX1_ENST00000525863.1_Silent_p.N845N|NLRX1_ENST00000409991.1_Silent_p.N845N|NLRX1_ENST00000409265.4_Silent_p.N845N|NLRX1_ENST00000292199.2_Silent_p.N845N	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	845	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGGCGTACAACGGTGCTGGTG	0.677																																						uc001pvu.2																			0				ovary(1)|skin(1)	2						c.(2533-2535)AAC>AAT		NLR family member X1 isoform 1		C	,	0,4400		0,0,2200	60.0	63.0	62.0		2535,2535	-4.4	0.6	11		62	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous,coding-synonymous	NLRX1	NM_024618.2,NM_170722.1	,	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	,	845/976,845/922	119052983	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119052983C>T	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2535C>T	11.37:g.119052983C>T						NLRX1_uc001pvv.2_Silent_p.N845N|NLRX1_uc001pvw.2_Silent_p.N845N|NLRX1_uc001pvx.2_Silent_p.N845N	p.N845N	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	9	2750	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	845			LRR 6.|Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	ENST00000409109.1	37	c.2535C>T	CCDS8416.1																																																																																				0.677	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722	
ARHGEF12	23365	broad.mit.edu	37	11	120352059	120352059	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:120352059C>T	ENST00000397843.2	+	39	4494	c.4328C>T	c.(4327-4329)aCa>aTa	p.T1443I	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.T1340I|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.T1424I	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1443					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CAGCCCATGACAGGCATCCCT	0.512			T	MLL	AML																																	uc001pxl.1				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(4327-4329)ACA>ATA		Rho guanine nucleotide exchange factor (GEF) 12							82.0	82.0	82.0					11																	120352059		1995	4186	6181	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120352059C>T	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4328C>T	11.37:g.120352059C>T	ENSP00000380942:p.Thr1443Ile					ARHGEF12_uc009zau.1_Missense_Mutation_p.T1340I	p.T1443I	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	39	4335	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1443					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.4328C>T	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	C	4.622	0.115643	0.08831	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.68624	-0.24;-0.34;-0.23	5.25	3.36	0.38483	.	0.910211	0.09108	N	0.847448	T	0.46964	0.1420	N	0.14661	0.345	0.09310	N	1	B	0.23735	0.09	B	0.20577	0.03	T	0.35226	-0.9797	10	0.40728	T	0.16	0.8757	5.3985	0.16283	0.2193:0.5417:0.1681:0.0709	.	1443	Q9NZN5	ARHGC_HUMAN	I	1443;1424;1340	ENSP00000380942:T1443I;ENSP00000349056:T1424I;ENSP00000432984:T1340I	ENSP00000349056:T1424I	T	+	2	0	ARHGEF12	119857269	0.003000	0.15002	0.004000	0.12327	0.013000	0.08279	1.568000	0.36418	0.842000	0.35045	0.655000	0.94253	ACA		0.512	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	
C1QL4	338761	broad.mit.edu	37	12	49726939	49726939	+	Silent	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr12:49726939G>A	ENST00000334221.3	-	2	1325	c.615C>T	c.(613-615)gaC>gaT	p.D205D		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	205	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						CGTCGCCCACGTCCAGGTGCA	0.597																																						uc001rtz.1																			0					0						c.(613-615)GAC>GAT		complement component 1, q subcomponent-like 4							158.0	111.0	127.0					12																	49726939		2203	4300	6503	SO:0001819	synonymous_variant	338761					collagen		g.chr12:49726939G>A		CCDS31793.1	12q13.12	2012-04-12				ENSG00000186897			31416	protein-coding gene	gene with protein product		615229					Standard	NM_001008223		Approved	C1QTNF11, CTRP11	uc001rtz.1	Q86Z23	OTTHUMG00000169515	ENST00000334221.3:c.615C>T	12.37:g.49726939G>A							p.D205D	NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN			2	1326	-			205			C1q.			Silent	SNP	ENST00000334221.3	37	c.615C>T	CCDS31793.1																																																																																				0.597	C1QL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404561.1	NM_001008223	
NHLRC3	387921	broad.mit.edu	37	13	39613426	39613426	+	Splice_Site	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr13:39613426G>A	ENST00000379600.3	+	2	559		c.e2+1		NHLRC3_ENST00000470258.1_Splice_Site|PROSER1_ENST00000350125.3_5'Flank|NHLRC3_ENST00000379599.2_Splice_Site|PROSER1_ENST00000352251.3_5'Flank	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3							extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CATAGGTCAAGTAAGTAAATA	0.388																																						uc001uxc.2																			0				skin(1)	1						c.e2+1		NHL repeat containing 3 isoform a							55.0	57.0	56.0					13																	39613426		2203	4300	6503	SO:0001630	splice_region_variant	387921					extracellular region		g.chr13:39613426G>A		CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.237+1G>A	13.37:g.39613426G>A						C13orf23_uc001uwy.2_5'Flank|C13orf23_uc001uwz.2_5'Flank|NHLRC3_uc001uxa.1_Splice_Site_p.Q79_splice|NHLRC3_uc001uxb.1_Splice_Site_p.Q79_splice|NHLRC3_uc001uxd.2_Splice_Site_p.Q79_splice|NHLRC3_uc001uxe.2_Splice_Site	p.Q79_splice	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)	2	559	+		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)						B2RTZ2|B4DTL0|Q69YI9	Splice_Site	SNP	ENST00000379600.3	37	c.237_splice	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693600	0.48202	.	.	ENSG00000188811	ENST00000379600;ENST00000379599;ENST00000537150	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9317	0.88999	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NHLRC3	38511426	1.000000	0.71417	0.985000	0.45067	0.568000	0.35870	6.644000	0.74338	2.457000	0.83068	0.462000	0.41574	.		0.388	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	NM_001012754	Intron
RB1	5925	broad.mit.edu	37	13	48916734	48916734	+	Splice_Site	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr13:48916734G>A	ENST00000267163.4	+	3	402		c.e3-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(4)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTTGTTCCCAGGGAGGTTATA	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		19	Whole gene deletion(15)|Unknown(4)	p.?(2)	bone(10)|lung(2)|breast(2)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CS075220	RB1	S		c.e3-1		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						60.0	69.0	66.0					13																	48916734		2203	4300	6503	SO:0001630	splice_region_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48916734G>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.265-1G>A	13.37:g.48916734G>A		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_Intron	p.G89_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	3	431	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	c.265_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771268	0.69992	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0115	0.71552	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47814735	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	2.338000	0.43957	2.667000	0.90743	0.603000	0.83216	.		0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron
RB1	5925	broad.mit.edu	37	13	48941638	48941641	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr13:48941638_48941641delTCTT	ENST00000267163.4	+	10	1086_1089	c.948_951delTCTT	c.(946-951)aatcttfs	p.NL316fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	316					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGGTTGAAAATCTTTCTAAACGAT	0.299		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		22	Whole gene deletion(15)|Unknown(7)	p.?(6)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(946-951)AATCTTfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48941638_48941641delTCTT	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.948_951delTCTT	13.37:g.48941638_48941641delTCTT	ENSP00000267163:p.Asn316fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Frame_Shift_Del_p.N17fs	p.N316fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	10	1114_1117	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	316_317					A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.948_951delTCTT	CCDS31973.1																																																																																				0.299	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
MTA1	9112	broad.mit.edu	37	14	105936268	105936268	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr14:105936268C>T	ENST00000331320.7	+	20	2150	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	MTA1_ENST00000405646.1_Missense_Mutation_p.R629W|RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000435036.2_Missense_Mutation_p.R186W|MTA1_ENST00000406191.1_Missense_Mutation_p.R634W	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	646					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AGTCAAGCGGCGGCGGATGAA	0.677																																						uc001yqx.2																			0				breast(1)|central_nervous_system(1)	2						c.(1936-1938)CGG>TGG		metastasis associated protein							23.0	26.0	25.0					14																	105936268		2193	4295	6488	SO:0001583	missense	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105936268C>T	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1936C>T	14.37:g.105936268C>T	ENSP00000333633:p.Arg646Trp					MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.R411W	p.R646W	NM_004689	NP_004680	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	20	2123	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	646					A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	c.1936C>T	CCDS32169.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.92|19.92	3.916442|3.916442	0.73098|0.73098	.|.	.|.	ENSG00000182979|ENSG00000182979	ENST00000494981|ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050;ENST00000435036;ENST00000426567	.|T;T;T;T;T;T	.|0.54479	.|1.33;1.3;1.33;1.33;0.69;0.57	5.07|5.07	2.99|2.99	0.34606|0.34606	.|.	.|0.061457	.|0.64402	.|D	.|0.000017	T|T	0.61689|0.61689	0.2367|0.2367	L|L	0.43152|0.43152	1.355|1.355	0.44345|0.44345	D|D	0.997231|0.997231	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79784	.|0.965;0.993	T|T	0.63717|0.63717	-0.6574|-0.6574	5|10	.|0.87932	.|D	.|0	-27.2823|-27.2823	10.6142|10.6142	0.45441|0.45441	0.5821:0.4179:0.0:0.0|0.5821:0.4179:0.0:0.0	.|.	.|442;646	.|Q59FW1;Q13330	.|.;MTA1_HUMAN	V|W	72|559;646;634;629;442;186;58	.|ENSP00000333633:R646W;ENSP00000385702:R634W;ENSP00000384180:R629W;ENSP00000394106:R442W;ENSP00000389425:R186W;ENSP00000395371:R58W	.|ENSP00000333633:R646W	A|R	+|+	2|1	0|2	MTA1|MTA1	105007313|105007313	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.479000|1.479000	0.35453|0.35453	1.096000|1.096000	0.41439|0.41439	0.491000|0.491000	0.48974|0.48974	GCG|CGG		0.677	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15		
TSC2	7249	broad.mit.edu	37	16	2134716	2134716	+	Splice_Site	SNP	G	G	A	rs397514971|rs137854099|rs137854879		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:2134716G>A	ENST00000219476.3	+	34	5123	c.4493G>A	c.(4492-4494)aGt>aAt	p.S1498N	TSC2_ENST00000350773.4_Splice_Site_p.S1475N|TSC2_ENST00000401874.2_Splice_Site_p.S1431N|TSC2_ENST00000568454.1_Splice_Site_p.S1442N|TSC2_ENST00000353929.4_Splice_Site_p.S1455N|TSC2_ENST00000382538.6_Splice_Site_p.S1383N|TSC2_ENST00000439673.2_Splice_Site_p.S1395N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1498			S -> N (in TSC2).		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ATCAACCCCAGGTGGGCCTCT	0.662			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc002con.2			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	D|Mis|N|F|S	tuberous sclerosis 2 gene			"""E, O"""		hamartoma|renal cell			0				central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10	GRCh37	CM991216	TSC2	M	rs137854099	c.(4492-4494)AGT>AAT		tuberous sclerosis 2 isoform 1							33.0	40.0	38.0					16																	2134716		2195	4290	6485	SO:0001630	splice_region_variant	7249	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2134716G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4493+1G>A	16.37:g.2134716G>A						TSC2_uc010bsd.2_Missense_Mutation_p.S1475N|TSC2_uc002coo.2_Missense_Mutation_p.S1431N|TSC2_uc010uvv.1_Missense_Mutation_p.S1395N|TSC2_uc010uvw.1_Missense_Mutation_p.S1383N|TSC2_uc002cop.2_Missense_Mutation_p.S1254N|TSC2_uc002coq.2_Missense_Mutation_p.S273N|TSC2_uc002cor.2_Missense_Mutation_p.S199N	p.S1498N	NM_000548	NP_000539	P49815	TSC2_HUMAN			34	4599	+		Hepatocellular(780;0.0202)	1498		S -> N (in TSC2).			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.4493G>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190962	0.78789	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36	5.17	5.17	0.71159	.	0.049341	0.85682	D	0.000000	D	0.96417	0.8831	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D;D	0.65815	0.983;0.994;0.99;0.975;0.99;0.99;0.995	D;D;D;P;D;D;D	0.76071	0.927;0.983;0.987;0.821;0.983;0.983;0.962	D	0.96809	0.9595	10	0.72032	D	0.01	-24.9677	18.6597	0.91468	0.0:0.0:1.0:0.0	.	1383;1395;1475;273;1454;1431;1498	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	N	1498;1432;1455;1395;1383;1475	ENSP00000219476:S1498N;ENSP00000248099:S1455N;ENSP00000399232:S1395N;ENSP00000371978:S1383N;ENSP00000344383:S1475N	ENSP00000219476:S1498N	S	+	2	0	TSC2	2074717	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.075000	0.94004	2.424000	0.82194	0.591000	0.81541	AGT		0.662	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	Missense_Mutation
GRIN2A	2903	broad.mit.edu	37	16	9862916	9862916	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:9862916A>T	ENST00000396573.2	-	13	2696	c.2387T>A	c.(2386-2388)cTc>cAc	p.L796H	GRIN2A_ENST00000562109.1_Missense_Mutation_p.L796H|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L796H|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L796H|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L796H|GRIN2A_ENST00000535259.1_Missense_Mutation_p.L639H	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	796					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GATCCCAGTGAGCCACAGGGT	0.567																																						uc002czo.3																			0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(2386-2388)CTC>CAC		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						112.0	92.0	99.0					16																	9862916		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9862916A>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2387T>A	16.37:g.9862916A>T	ENSP00000379818:p.Leu796His					GRIN2A_uc010uym.1_Missense_Mutation_p.L796H|GRIN2A_uc010uyn.1_Missense_Mutation_p.L639H|GRIN2A_uc002czr.3_Missense_Mutation_p.L796H	p.L796H	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			12	2935	-			796			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2387T>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321403	0.81580	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	4.45	4.45	0.53987	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	T	0.61297	-0.7091	9	.	.	.	.	13.2061	0.59798	1.0:0.0:0.0:0.0	.	639;796;796	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	H	796;796;639;796;796	ENSP00000379818:L796H;ENSP00000385872:L796H;ENSP00000441572:L639H;ENSP00000332549:L796H;ENSP00000379820:L796H	.	L	-	2	0	GRIN2A	9770417	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.176000	0.94839	1.757000	0.51966	0.460000	0.39030	CTC		0.567	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
IL4R	3566	broad.mit.edu	37	16	27373977	27373977	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:27373977C>G	ENST00000395762.2	+	11	1563	c.1304C>G	c.(1303-1305)cCt>cGt	p.P435R	IL4R_ENST00000543915.2_Missense_Mutation_p.P435R|IL4R_ENST00000380922.3_Missense_Mutation_p.P420R|IL4R_ENST00000170630.2_Missense_Mutation_p.P435R	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	435					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTTCTTCCACCTTCGGGAAGT	0.612																																						uc002don.2																			0				ovary(1)|skin(1)	2						c.(1303-1305)CCT>CGT		interleukin 4 receptor alpha chain isoform a							73.0	72.0	72.0					16																	27373977		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27373977C>G	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1304C>G	16.37:g.27373977C>G	ENSP00000379111:p.Pro435Arg					IL4R_uc002dop.3_Missense_Mutation_p.P420R|IL4R_uc010bxy.2_Missense_Mutation_p.P435R|IL4R_uc002doo.2_Missense_Mutation_p.P275R	p.P435R	NM_000418	NP_000409	P24394	IL4RA_HUMAN			11	1546	+			435			Cytoplasmic (Potential).		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.1304C>G	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977295	0.53720	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.31	1.78	0.24846	.	32.087400	0.00166	N	0.000000	T	0.25680	0.0625	M	0.66939	2.045	0.09310	N	1	D;D;D	0.60575	0.988;0.976;0.976	P;P;P	0.56398	0.797;0.601;0.601	T	0.06954	-1.0798	10	0.72032	D	0.01	-10.8293	5.3315	0.15936	0.1601:0.6452:0.0:0.1947	.	420;435;435	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	R	435;435;420;435	ENSP00000379111:P435R;ENSP00000441667:P435R;ENSP00000370309:P420R;ENSP00000170630:P435R	ENSP00000170630:P435R	P	+	2	0	IL4R	27281478	0.000000	0.05858	0.010000	0.14722	0.009000	0.06853	0.217000	0.17603	1.070000	0.40811	0.655000	0.94253	CCT		0.612	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4		
CDH8	1006	broad.mit.edu	37	16	61689535	61689535	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:61689535C>A	ENST00000577390.1	-	11	2699	c.1745G>T	c.(1744-1746)gGa>gTa	p.G582V	CDH8_ENST00000577730.1_Missense_Mutation_p.G582V|CDH8_ENST00000299345.6_Missense_Mutation_p.G582V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	582	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGAGGATTTCCACTATCACT	0.438																																						uc002eog.1																			0				ovary(6)|skin(2)|breast(1)	9						c.(1744-1746)GGA>GTA		cadherin 8, type 2 preproprotein							150.0	133.0	139.0					16																	61689535		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61689535C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1745G>T	16.37:g.61689535C>A	ENSP00000462701:p.Gly582Val						p.G582V	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	11	1997	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	582			Extracellular (Potential).|Cadherin 5.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1745G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114956	0.77210	.	.	ENSG00000150394	ENST00000299345	T	0.65178	-0.14	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.88815	0.6539	H	0.99464	4.58	0.80722	D	1	D	0.67145	0.996	D	0.75020	0.985	D	0.93610	0.6938	10	0.87932	D	0	.	18.4201	0.90587	0.0:1.0:0.0:0.0	.	582	P55286	CADH8_HUMAN	V	582	ENSP00000299345:G582V	ENSP00000299345:G582V	G	-	2	0	CDH8	60247036	1.000000	0.71417	0.998000	0.56505	0.395000	0.30598	7.440000	0.80464	2.599000	0.87857	0.561000	0.74099	GGA		0.438	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)	uc002gim.2	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)CGC>CAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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)				TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	p.R175H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
KCNJ12	3768	broad.mit.edu	37	17	21318689	21318689	+	Missense_Mutation	SNP	T	T	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:21318689T>G	ENST00000583088.1	+	3	930	c.35T>G	c.(34-36)aTc>aGc	p.I12S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.I12S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	12					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCCTACAGCATCGTGTCATCG	0.711										Prostate(3;0.18)																												uc002gyv.1																			0				ovary(3)|skin(1)	4						c.(34-36)ATC>AGC		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						52.0	49.0	50.0					17																	21318689		2202	4299	6501	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21318689T>G	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.35T>G	17.37:g.21318689T>G	ENSP00000463778:p.Ile12Ser	Prostate(3;0.18)					p.I12S	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	740	+			12			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.35T>G	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.116409	0.77323	.	.	ENSG00000184185	ENST00000331718	T	0.44482	0.92	5.33	5.33	0.75918	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60869	0.2302	M	0.61703	1.905	0.80722	D	1	D	0.64830	0.994	D	0.67231	0.95	T	0.64757	-0.6332	10	0.87932	D	0	.	14.9643	0.71179	0.0:0.0:0.0:1.0	.	12	Q14500	IRK12_HUMAN	S	12	ENSP00000328150:I12S	ENSP00000328150:I12S	I	+	2	0	KCNJ12	21259282	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.148000	0.71788	2.027000	0.59764	0.482000	0.46254	ATC		0.711	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
NF1	4763	broad.mit.edu	37	17	29661898	29661898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:29661898G>A	ENST00000358273.4	+	40	6238	c.5855G>A	c.(5854-5856)tGg>tAg	p.W1952*	NF1_ENST00000356175.3_Nonsense_Mutation_p.W1931*|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000581113.2_3'UTR|NF1_ENST00000444181.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1952			W -> R (in NF1; dbSNP:rs199474791). {ECO:0000269|PubMed:9101300}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.M1949fs*2(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGACTCCATGGCTGTCAAAT	0.343			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(1)		soft_tissue(7)|autonomic_ganglia(2)|lung(1)|ovary(1)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CM062912	NF1	M		c.(5854-5856)TGG>TAG		neurofibromin isoform 1							125.0	116.0	119.0					17																	29661898		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29661898G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5855G>A	17.37:g.29661898G>A	ENSP00000351015:p.Trp1952*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Nonsense_Mutation_p.W1931*|NF1_uc010cso.2_Nonsense_Mutation_p.W140*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	p.W1952*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	40	6188	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1952		W -> R (in NF1).			O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.5855G>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	49	14.994979	0.99818	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4882	0.95039	0.0:0.0:1.0:0.0	.	.	.	.	X	1952;1931;1597	.	ENSP00000348498:W1931X	W	+	2	0	NF1	26686024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.261000	0.95576	2.620000	0.88729	0.557000	0.71058	TGG		0.343	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
KRTAP4-8	728224	broad.mit.edu	37	17	39253949	39253949	+	Missense_Mutation	SNP	T	T	A	rs200040006	byFrequency	TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:39253949T>A	ENST00000333822.4	-	1	444	c.388A>T	c.(388-390)Agc>Tgc	p.S130C		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	130	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgctgcagctgggg	0.677													T|||	312	0.0623003	0.0787	0.0865	5008	,	,		15319	0.0278		0.0616	False		,,,				2504	0.0593					uc010wfo.1																			0					0						c.(388-390)AGC>TGC		keratin associated protein 4.8							4.0	6.0	5.0					17																	39253949		641	1513	2154	SO:0001583	missense	728224					keratin filament		g.chr17:39253949T>A	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.388A>T	17.37:g.39253949T>A	ENSP00000328444:p.Ser130Cys						p.S130C	NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN			1	427	-			130			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.388A>T	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	5.252	0.232015	0.09969	.	.	ENSG00000204880	ENST00000333822	T	0.00593	6.34	3.73	2.64	0.31445	.	.	.	.	.	T	0.00144	0.0004	N	0.00027	-2.645	0.24205	N	0.995495	B	0.02656	0.0	B	0.01281	0.0	T	0.37709	-0.9694	9	0.02654	T	1	.	7.9032	0.29746	0.8151:0.0:0.0:0.1849	.	130	Q9BYQ9	KRA48_HUMAN	C	130	ENSP00000328444:S130C	ENSP00000328444:S130C	S	-	1	0	KRTAP4-8	36507475	0.993000	0.37304	0.954000	0.39281	0.491000	0.33493	4.109000	0.57824	0.430000	0.26230	-0.595000	0.04109	AGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960	
EFTUD2	9343	broad.mit.edu	37	17	42942379	42942379	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:42942379G>A	ENST00000426333.2	-	14	1501	c.1204C>T	c.(1204-1206)Cac>Tac	p.H402Y	EFTUD2_ENST00000592576.1_Missense_Mutation_p.H392Y|EFTUD2_ENST00000591382.1_Missense_Mutation_p.H402Y|EFTUD2_ENST00000402521.3_Missense_Mutation_p.H367Y	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	402	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTCGTCAGGTGGATGCCAAGC	0.557											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(10;65 485 10258 29980 30707)	uc002ihn.2																			0				ovary(1)	1						c.(1204-1206)CAC>TAC		elongation factor Tu GTP binding domain							166.0	135.0	146.0					17																	42942379		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42942379G>A	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1204C>T	17.37:g.42942379G>A	ENSP00000392094:p.His402Tyr		OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	912	EFTUD2_uc010wje.1_Missense_Mutation_p.H367Y|EFTUD2_uc010wjf.1_Missense_Mutation_p.H392Y	p.H402Y	NM_004247	NP_004238	Q15029	U5S1_HUMAN			14	1465	-		Prostate(33;0.109)	402					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.1204C>T	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409567	0.25378	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.75477	-0.94;-0.94	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.57315	0.2045	N	0.04355	-0.22	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.51236	-0.8731	10	0.26408	T	0.33	-22.93	20.3931	0.98965	0.0:0.0:1.0:0.0	.	392;402	B4DMC0;Q15029	.;U5S1_HUMAN	Y	402;392;367	ENSP00000392094:H402Y;ENSP00000385873:H367Y	ENSP00000262414:H392Y	H	-	1	0	EFTUD2	40297905	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	CAC		0.557	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247	
LPO	4025	broad.mit.edu	37	17	56344837	56344837	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:56344837C>T	ENST00000262290.4	+	12	2137	c.1821C>T	c.(1819-1821)atC>atT	p.I607I	LPO_ENST00000543544.1_Silent_p.I548I|LPO_ENST00000421678.2_Silent_p.I524I|LPO_ENST00000582328.1_Silent_p.I524I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	607					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CTGACAACATCGACATCTGGA	0.587																																						uc002ivt.2																			0				ovary(1)|breast(1)	2						c.(1819-1821)ATC>ATT		lactoperoxidase isoform 1 preproprotein							78.0	76.0	77.0					17																	56344837		2203	4300	6503	SO:0001819	synonymous_variant	4025				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56344837C>T	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1821C>T	17.37:g.56344837C>T						LPO_uc010wns.1_Silent_p.I548I|LPO_uc010dcp.2_Silent_p.I524I|LPO_uc010dcq.2_Silent_p.I278I|LPO_uc010dcr.2_Silent_p.I170I	p.I607I	NM_006151	NP_006142	P22079	PERL_HUMAN			12	2137	+			607					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	ENST00000262290.4	37	c.1821C>T	CCDS32689.1																																																																																				0.587	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1		
ALPK2	115701	broad.mit.edu	37	18	56203541	56203541	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr18:56203541A>G	ENST00000361673.3	-	5	4091	c.3878T>C	c.(3877-3879)aTa>aCa	p.I1293T	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1293						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAATGCTGCTATTTCAGAGGG	0.507																																						uc002lhj.3																			0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(3877-3879)ATA>ACA		heart alpha-kinase							121.0	113.0	116.0					18																	56203541		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203541A>G	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3878T>C	18.37:g.56203541A>G	ENSP00000354991:p.Ile1293Thr					ALPK2_uc002lhk.1_Missense_Mutation_p.I624T	p.I1293T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	4092	-			1293					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3878T>C	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	a	5.021	0.189478	0.09547	.	.	ENSG00000198796	ENST00000361673	T	0.44083	0.93	4.73	-9.47	0.00594	.	632.543000	0.00166	N	0.000002	T	0.12135	0.0295	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30504	-0.9976	10	0.44086	T	0.13	4.6001	2.1302	0.03749	0.4984:0.1796:0.1417:0.1802	.	1288;1293	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	T	1293	ENSP00000354991:I1293T	ENSP00000354991:I1293T	I	-	2	0	ALPK2	54354521	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.088000	0.00610	-2.633000	0.00433	-0.658000	0.03865	ATA		0.507	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
SERPINB7	8710	broad.mit.edu	37	18	61471670	61471670	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr18:61471670G>A	ENST00000398019.2	+	8	1269	c.944G>A	c.(943-945)cGt>cAt	p.R315H	SERPINB7_ENST00000540675.1_Missense_Mutation_p.R298H|SERPINB7_ENST00000546027.1_Missense_Mutation_p.R315H|SERPINB7_ENST00000336429.2_Missense_Mutation_p.R315H	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	315					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R315H(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TCGGGGGGTCGTCTGTATATA	0.428																																						uc002ljl.2																			1	Substitution - Missense(1)	p.R315H(1)	central_nervous_system(1)	lung(2)|central_nervous_system(1)	3						c.(943-945)CGT>CAT		serine (or cysteine) proteinase inhibitor, clade							46.0	48.0	47.0					18																	61471670		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61471670G>A	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.944G>A	18.37:g.61471670G>A	ENSP00000381101:p.Arg315His					SERPINB7_uc002ljm.2_Missense_Mutation_p.R315H|SERPINB7_uc010xet.1_Missense_Mutation_p.R298H|SERPINB7_uc010dqg.2_Missense_Mutation_p.R315H	p.R315H	NM_001040147	NP_001035237	O75635	SPB7_HUMAN			8	1040	+		Esophageal squamous(42;0.129)	315					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.944G>A	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582352	0.46006	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	6.0	6.0	0.97389	Serpin domain (3);	0.083254	0.52532	D	0.000065	T	0.29355	0.0731	M	0.64676	1.99	0.38525	D	0.948829	D;D	0.89917	1.0;1.0	D;D	0.75484	0.966;0.986	T	0.01036	-1.1473	10	0.59425	D	0.04	.	12.6678	0.56851	0.0825:0.0:0.9175:0.0	.	298;315	F5GZC0;O75635	.;SPB7_HUMAN	H	315;315;298;315	ENSP00000337212:R315H;ENSP00000381101:R315H;ENSP00000444572:R298H;ENSP00000444861:R315H	ENSP00000337212:R315H	R	+	2	0	SERPINB7	59622650	0.005000	0.15991	0.878000	0.34440	0.439000	0.31926	1.330000	0.33781	2.846000	0.97976	0.650000	0.86243	CGT		0.428	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784	
KCNG2	26251	broad.mit.edu	37	18	77624159	77624159	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr18:77624159C>T	ENST00000316249.3	+	1	492	c.492C>T	c.(490-492)cgC>cgT	p.R164R		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	164					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		ggcgccTGCGCGACGTGGTGG	0.796																																						uc010xfl.1																			0					0						c.(490-492)CGC>CGT		potassium voltage-gated channel, subfamily G,							10.0	10.0	10.0					18																	77624159		1930	3851	5781	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77624159C>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.492C>T	18.37:g.77624159C>T							p.R164R	NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	492	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	164			Cytoplasmic (Potential).			Silent	SNP	ENST00000316249.3	37	c.492C>T	CCDS12019.1																																																																																				0.796	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283	
CD209	30835	broad.mit.edu	37	19	7812212	7812212	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr19:7812212C>T	ENST00000315599.7	-	2	108	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	CD209_ENST00000394161.5_Missense_Mutation_p.R29Q|CD209_ENST00000354397.6_Missense_Mutation_p.R29Q|CD209_ENST00000593660.1_Missense_Mutation_p.R29Q|CD209_ENST00000315591.8_Missense_Mutation_p.R29Q|CD209_ENST00000301357.8_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R29Q|CD209_ENST00000394173.4_Missense_Mutation_p.R29Q|CD209_ENST00000593821.1_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R29Q|CD209_ENST00000204801.8_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.R29Q	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	29					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTTGTATCCTCGAGTCTGTCG	0.577																																						uc002mht.2																			0				skin(1)	1						c.(85-87)CGA>CAA		CD209 molecule isoform 1							338.0	348.0	345.0					19																	7812212		2203	4300	6503	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7812212C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.86G>A	19.37:g.7812212C>T	ENSP00000315477:p.Arg29Gln					CD209_uc010xju.1_Missense_Mutation_p.R29Q|CD209_uc010dvp.2_Missense_Mutation_p.R29Q|CD209_uc002mhr.2_Missense_Mutation_p.R29Q|CD209_uc002mhs.2_Missense_Mutation_p.R29Q|CD209_uc002mhu.2_Missense_Mutation_p.R29Q|CD209_uc010dvq.2_Missense_Mutation_p.R29Q|CD209_uc002mhq.2_Missense_Mutation_p.R29Q|CD209_uc002mhv.2_Missense_Mutation_p.R29Q|CD209_uc002mhx.2_Intron|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Missense_Mutation_p.R29Q	p.R29Q	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			2	153	-			29			Cytoplasmic (Probable).		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.86G>A	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361159	0.41801	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000394173;ENST00000394161;ENST00000538585	T;T;T;T;T	0.08720	4.14;4.52;3.53;4.05;3.06	3.41	-6.81	0.01704	.	.	.	.	.	T	0.08714	0.0216	L	0.53249	1.67	0.09310	N	1	B;B;P;D;P;D;B;D;B;D	0.62365	0.135;0.079;0.872;0.991;0.813;0.966;0.061;0.975;0.079;0.959	B;B;B;P;B;P;B;P;B;B	0.48677	0.022;0.007;0.315;0.535;0.176;0.586;0.022;0.56;0.011;0.382	T	0.01988	-1.1234	9	0.41790	T	0.15	.	2.9443	0.05841	0.1295:0.4799:0.1994:0.1912	.	29;29;29;29;29;29;29;29;29;29	B2R907;Q9NNX6-4;Q9NNX6-2;Q9NNX6-12;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	Q	29	ENSP00000315477:R29Q;ENSP00000346373:R29Q;ENSP00000315407:R29Q;ENSP00000377728:R29Q;ENSP00000377716:R29Q	ENSP00000315407:R29Q	R	-	2	0	CD209	7718212	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.649000	0.05384	-1.318000	0.02289	0.563000	0.77884	CGA		0.577	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155	
IGFL1	374918	broad.mit.edu	37	19	46733408	46733408	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr19:46733408C>T	ENST00000437936.1	+	2	92	c.69C>T	c.(67-69)caC>caT	p.H23H	AC006262.10_ENST00000597337.1_RNA	NM_198541.1	NP_940943.1	Q6UW32	IGFL1_HUMAN	IGF-like family member 1	23						extracellular space (GO:0005615)				lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		TCTGCTCACACGGAGCCCCAG	0.597																																						uc002pee.2																			0					0						c.(67-69)CAC>CAT		IGF-like family member 1 precursor							88.0	85.0	86.0					19																	46733408		1902	4126	6028	SO:0001819	synonymous_variant	374918					extracellular space	protein binding	g.chr19:46733408C>T	AY359013	CCDS46123.1	19q13.32	2010-06-15			ENSG00000188293	ENSG00000188293			24093	protein-coding gene	gene with protein product		610544				12975309	Standard	NM_198541		Approved	UNQ644	uc002pee.3	Q6UW32		ENST00000437936.1:c.69C>T	19.37:g.46733408C>T							p.H23H	NM_198541	NP_940943	Q6UW32	IGFL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)	2	92	+		Ovarian(192;0.0731)|all_neural(266;0.196)	23						Silent	SNP	ENST00000437936.1	37	c.69C>T	CCDS46123.1																																																																																				0.597	IGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461724.1	NM_198541	
KLK6	5653	broad.mit.edu	37	19	51462532	51462532	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr19:51462532C>T	ENST00000376851.3	-	6	1062	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	KLK6_ENST00000310157.2_Missense_Mutation_p.R208Q|KLK6_ENST00000376853.4_Missense_Mutation_p.E80K|KLK6_ENST00000594641.1_Missense_Mutation_p.R208Q|KLK6_ENST00000456750.2_Missense_Mutation_p.R101Q|CTB-147C22.8_ENST00000601506.1_RNA|CTB-147C22.8_ENST00000594939.1_RNA|KLK6_ENST00000391808.1_Missense_Mutation_p.R101Q	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	208	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CACAAGGCCTCGGAGGTGGTC	0.512																																						uc002pui.2																			0					0						c.(622-624)CGA>CAA		kallikrein-related peptidase 6 isoform A							215.0	197.0	203.0					19																	51462532		2203	4300	6503	SO:0001583	missense	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51462532C>T	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.623G>A	19.37:g.51462532C>T	ENSP00000366047:p.Arg208Gln					KLK6_uc010eoj.2_Missense_Mutation_p.E80K|KLK6_uc002puh.2_Missense_Mutation_p.R217Q|KLK6_uc002puj.2_Missense_Mutation_p.R101Q|KLK6_uc010ycn.1_Missense_Mutation_p.R101Q|KLK6_uc002pul.2_Missense_Mutation_p.R208Q|KLK6_uc002pum.2_Missense_Mutation_p.R101Q	p.R208Q	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	7	883	-		all_neural(266;0.026)	208			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	c.623G>A	CCDS12811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	0.013|0.013	-1.630975|-1.630975	0.00813|0.00813	.|.	.|.	ENSG00000167755|ENSG00000167755	ENST00000376853|ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750	D|D;D;D;D	0.82344|0.87650	-1.6|-2.28;-2.28;-2.28;-2.28	3.89|3.89	1.68|1.68	0.24146|0.24146	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|.	.|.	.|.	.|.	T|T	0.58666|0.58666	0.2138|0.2138	N|N	0.01454|0.01454	-0.855|-0.855	0.80722|0.80722	D|D	1|1	B|B;B	0.20988|0.26744	0.05|0.158;0.026	B|B;B	0.14578|0.13407	0.011|0.009;0.009	T|T	0.57900|0.57900	-0.7731|-0.7731	9|9	0.10902|0.02654	T|T	0.67|1	.|.	6.2344|6.2344	0.20754|0.20754	0.0:0.6734:0.0:0.3266|0.0:0.6734:0.0:0.3266	.|.	80|208;101	E7ETY0|Q92876;Q92876-2	.|KLK6_HUMAN;.	K|Q	80|208;208;101;101	ENSP00000366049:E80K|ENSP00000309148:R208Q;ENSP00000366047:R208Q;ENSP00000375684:R101Q;ENSP00000409241:R101Q	ENSP00000366049:E80K|ENSP00000309148:R208Q	E|R	-|-	1|2	0|0	KLK6|KLK6	56154344|56154344	0.956000|0.956000	0.32656|0.32656	0.041000|0.041000	0.18516|0.18516	0.007000|0.007000	0.05969|0.05969	2.028000|2.028000	0.41088|0.41088	0.401000|0.401000	0.25424|0.25424	-0.150000|-0.150000	0.13652|0.13652	GAG|CGA		0.512	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774	
SMARCAL1	50485	broad.mit.edu	37	2	217285033	217285033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr2:217285033C>T	ENST00000357276.4	+	5	1204	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	SMARCAL1_ENST00000358207.5_Nonsense_Mutation_p.Q292*	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	292	HARP 1. {ECO:0000255|PROSITE- ProRule:PRU00800}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GAAAGCAGCCCAGAGCCTCCC	0.557									Schimke Immuno-Osseous Dysplasia																													uc002vgc.3																			0				ovary(3)|breast(3)|skin(1)	7						c.(874-876)CAG>TAG		SWI/SNF-related matrix-associated							44.0	40.0	41.0					2																	217285033		2203	4300	6503	SO:0001587	stop_gained	50485	Schimke_Immuno-Osseous_Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217285033C>T	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.874C>T	2.37:g.217285033C>T	ENSP00000349823:p.Gln292*					SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Nonsense_Mutation_p.Q292*|SMARCAL1_uc010fvg.2_Nonsense_Mutation_p.Q292*	p.Q292*	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	5	1204	+		Renal(323;0.0458)	292			HARP 1.		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Nonsense_Mutation	SNP	ENST00000357276.4	37	c.874C>T	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029918	0.35797	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128;ENST00000412913	.	.	.	4.64	1.71	0.24356	.	0.928117	0.09285	N	0.823171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-1.8382	8.2091	0.31473	0.2648:0.4251:0.3101:0.0	.	.	.	.	X	292;292;191;156;12	.	ENSP00000349823:Q292X	Q	+	1	0	SMARCAL1	216993278	0.042000	0.20092	0.434000	0.26772	0.213000	0.24496	0.395000	0.20850	0.156000	0.19299	-0.310000	0.09108	CAG		0.557	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2		
TSHZ2	128553	broad.mit.edu	37	20	51870294	51870294	+	Silent	SNP	C	C	T	rs371445975		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr20:51870294C>T	ENST00000371497.5	+	2	1184	c.297C>T	c.(295-297)tgC>tgT	p.C99C	TSHZ2_ENST00000603338.2_Silent_p.C96C|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.C96C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	99					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGAGTGTCTGCGGCAGAGATG	0.512																																						uc002xwo.2																			0				ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(295-297)TGC>TGT		teashirt zinc finger homeobox 2		C	,	0,4406		0,0,2203	92.0	79.0	83.0		288,297	-1.2	0.8	20		83	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	TSHZ2	NM_001193421.1,NM_173485.5	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	96/1032,99/1035	51870294	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870294C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.297C>T	20.37:g.51870294C>T							p.C99C	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1253	+			99					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.297C>T	CCDS33490.1																																																																																				0.512	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
RRP1B	23076	broad.mit.edu	37	21	45092195	45092195	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr21:45092195C>A	ENST00000340648.4	+	3	337	c.220C>A	c.(220-222)Ctc>Atc	p.L74I		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	74					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GCAGGAAGAGCTCGCCAACAC	0.552																																						uc002zdk.2																			0				skin(1)	1						c.(220-222)CTC>ATC		ribosomal RNA processing 1 homolog B							178.0	147.0	157.0					21																	45092195		2203	4300	6503	SO:0001583	missense	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45092195C>A	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.220C>A	21.37:g.45092195C>A	ENSP00000339145:p.Leu74Ile						p.L74I	NM_015056	NP_055871	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	3	334	+			74					Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	c.220C>A	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140089	0.56936	.	.	ENSG00000160208	ENST00000340648	T	0.57752	0.38	5.82	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.76456	0.3990	M	0.92367	3.3	0.54753	D	0.999983	D	0.89917	1.0	D	0.87578	0.998	T	0.80708	-0.1262	10	0.87932	D	0	-17.4916	10.6648	0.45723	0.0:0.9005:0.0:0.0995	.	74	Q14684	RRP1B_HUMAN	I	74	ENSP00000339145:L74I	ENSP00000339145:L74I	L	+	1	0	RRP1B	43916623	1.000000	0.71417	0.998000	0.56505	0.384000	0.30261	1.532000	0.36029	2.756000	0.94617	0.563000	0.77884	CTC		0.552	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056	
PIK3CB	5291	broad.mit.edu	37	3	138374298	138374298	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr3:138374298A>C	ENST00000477593.1	-	23	3219	c.3146T>G	c.(3145-3147)cTc>cGc	p.L1049R	PIK3CB_ENST00000289153.2_Missense_Mutation_p.L1049R|PIK3CB_ENST00000544716.1_Missense_Mutation_p.L500R			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1049	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	GCTTTCCCTGAGCGCCTCATC	0.418																																						uc011bmq.1																			0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(3145-3147)CTC>CGC		catalytic phosphatidylinositol 3-kinase beta							123.0	114.0	117.0					3																	138374298		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138374298A>C		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.3146T>G	3.37:g.138374298A>C	ENSP00000418143:p.Leu1049Arg					PIK3CB_uc011bmn.1_Missense_Mutation_p.L561R|PIK3CB_uc011bmo.1_Missense_Mutation_p.L500R|PIK3CB_uc011bmp.1_Missense_Mutation_p.L636R|PIK3CB_uc003est.1_RNA	p.L1049R	NM_006219	NP_006210	P42338	PK3CB_HUMAN			22	3146	-			1049			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.3146T>G	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.028699|4.028699	0.75504|0.75504	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153|ENST00000493568	D;D;D|.	0.82433|.	-1.61;-1.61;-1.61|.	5.3|5.3	5.3|5.3	0.74995|0.74995	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78020|0.78020	0.4218|0.4218	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.67145|.	0.989;0.989;0.996|.	P;P;P|.	0.60949|.	0.881;0.762;0.696|.	T|T	0.80221|0.80221	-0.1472|-0.1472	10|5	0.45353|.	T|.	0.12|.	-13.4067|-13.4067	15.4158|15.4158	0.74966|0.74966	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1049;636;500|.	P42338;B4DZI3;Q68DL0|.	PK3CB_HUMAN;.;.|.	R|A	1049;500;1049|681	ENSP00000418143:L1049R;ENSP00000438259:L500R;ENSP00000289153:L1049R|.	ENSP00000289153:L1049R|.	L|S	-|-	2|1	0|0	PIK3CB|PIK3CB	139856988|139856988	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.139000|9.139000	0.94554|0.94554	2.226000|2.226000	0.72624|0.72624	0.533000|0.533000	0.62120|0.62120	CTC|TCA		0.418	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1		
RBM47	54502	broad.mit.edu	37	4	40440532	40440532	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr4:40440532C>T	ENST00000381793.2	-	3	775	c.379G>A	c.(379-381)Gca>Aca	p.A127T	RBM47_ENST00000381795.6_Missense_Mutation_p.A127T|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.A127T|RBM47_ENST00000514014.1_Missense_Mutation_p.A89T|RBM47_ENST00000319592.4_Missense_Mutation_p.A127T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	127	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TCACGCACTGCGCGCTTGGCC	0.642																																						uc003gvc.2																			0				breast(3)	3						c.(379-381)GCA>ACA		RNA binding motif protein 47 isoform a							61.0	51.0	55.0					4																	40440532		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440532C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.379G>A	4.37:g.40440532C>T	ENSP00000371212:p.Ala127Thr					RBM47_uc003gvd.2_Missense_Mutation_p.A127T|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.A89T|RBM47_uc003gvg.1_Missense_Mutation_p.A127T	p.A127T	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			4	1089	-			127			RRM 1.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.379G>A	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965244	0.92855	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782	T;T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.58	5.58	0.84498	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.74129	0.3676	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.82818	-0.0269	10	0.87932	D	0	-18.5386	19.5736	0.95432	0.0:1.0:0.0:0.0	.	127;127	A0AV96-2;A0AV96	.;RBM47_HUMAN	T	127;127;127;127;89;127;127;127;127	ENSP00000320108:A127T;ENSP00000371212:A127T;ENSP00000371214:A127T;ENSP00000295971:A127T;ENSP00000423243:A89T;ENSP00000422564:A127T;ENSP00000421589:A127T;ENSP00000423527:A127T;ENSP00000426542:A127T	ENSP00000295971:A127T	A	-	1	0	RBM47	40135289	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.813000	0.86123	2.635000	0.89317	0.313000	0.20887	GCA		0.642	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027	
FYB	2533	broad.mit.edu	37	5	39202820	39202820	+	Silent	SNP	C	C	T	rs370543019		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:39202820C>T	ENST00000351578.6	-	2	433	c.243G>A	c.(241-243)ccG>ccA	p.P81P	FYB_ENST00000505428.1_Silent_p.P81P|FYB_ENST00000512982.1_Silent_p.P81P|FYB_ENST00000540520.1_Silent_p.P91P|FYB_ENST00000515010.1_Silent_p.P81P	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	81					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GCTTTAGAAACGGGGGCTTGG	0.552													c|||	1	0.000199681	0.0	0.0	5008	,	,		15957	0.001		0.0	False		,,,				2504	0.0					uc003jls.2																			0				ovary(2)	2						c.(241-243)CCG>CCA		FYN binding protein (FYB-120/130) isoform 2		T	,	2,3712		0,2,1855	43.0	42.0	42.0		243,243	-12.3	0.0	5		42	0,8228		0,0,4114	no	coding-synonymous,coding-synonymous	FYB	NM_001465.4,NM_199335.3	,	0,2,5969	TT,TC,CC		0.0,0.0539,0.0167	,	81/830,81/784	39202820	2,11940	1857	4114	5971	SO:0001819	synonymous_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202820C>T	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.243G>A	5.37:g.39202820C>T						FYB_uc003jlt.2_Silent_p.P81P|FYB_uc003jlu.2_Silent_p.P81P|FYB_uc011cpl.1_Silent_p.P91P	p.P81P	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		1	310	-	all_lung(31;0.000343)		81					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	ENST00000351578.6	37	c.243G>A	CCDS47200.1																																																																																				0.552	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	
NUDT12	83594	broad.mit.edu	37	5	102891710	102891710	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:102891710C>T	ENST00000230792.2	-	4	982	c.886G>A	c.(886-888)Ggt>Agt	p.G296S	NUDT12_ENST00000515407.1_5'UTR|NUDT12_ENST00000507423.1_Missense_Mutation_p.G278S	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	296					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TTATAGCCACCTTCTTCAATT	0.393																																						uc003koi.2																			0					0						c.(886-888)GGT>AGT		nudix-type motif 12							117.0	113.0	114.0					5																	102891710		2202	4299	6501	SO:0001583	missense	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102891710C>T	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.886G>A	5.37:g.102891710C>T	ENSP00000230792:p.Gly296Ser					NUDT12_uc011cvb.1_Missense_Mutation_p.G278S	p.G296S	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	4	979	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	296					B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	c.886G>A	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558572	0.86231	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.41758	0.99;0.99	5.34	5.34	0.76211	NUDIX hydrolase domain (1);Zinc ribbon, NADH pyrophosphatase (1);NUDIX hydrolase domain-like (1);	0.090855	0.85682	D	0.000000	T	0.62171	0.2406	M	0.62723	1.935	0.80722	D	1	D;D	0.65815	0.995;0.976	D;D	0.64595	0.927;0.912	T	0.61178	-0.7115	10	0.49607	T	0.09	-12.6152	19.3897	0.94576	0.0:1.0:0.0:0.0	.	278;296	E7EM93;Q9BQG2	.;NUD12_HUMAN	S	296;278	ENSP00000230792:G296S;ENSP00000424521:G278S	ENSP00000230792:G296S	G	-	1	0	NUDT12	102919609	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	7.320000	0.79064	2.646000	0.89796	0.650000	0.86243	GGT		0.393	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438	
PCDHGA1	56114	broad.mit.edu	37	5	140711002	140711002	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:140711002G>A	ENST00000517417.1	+	1	751	c.751G>A	c.(751-753)Gtc>Atc	p.V251I	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.V251I	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	251	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATATAAATGTCCCCGAAAA	0.493																																						uc003lji.1																			0				ovary(1)|breast(1)|pancreas(1)	3						c.(751-753)GTC>ATC		protocadherin gamma subfamily A, 1 isoform 1							65.0	64.0	65.0					5																	140711002		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140711002G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.751G>A	5.37:g.140711002G>A	ENSP00000431083:p.Val251Ile					PCDHGA1_uc011dan.1_Missense_Mutation_p.V251I	p.V251I	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	751	+			251			Cadherin 3.|Extracellular (Potential).		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.751G>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	2.084	-0.410090	0.04799	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.53857	0.6;0.6	4.2	3.33	0.38152	Cadherin (4);Cadherin-like (1);	0.000000	0.44483	D	0.000456	T	0.43233	0.1238	L	0.38692	1.165	0.09310	N	1	P;B	0.35527	0.507;0.325	B;B	0.40375	0.309;0.327	T	0.36915	-0.9728	10	0.56958	D	0.05	.	7.1842	0.25791	0.2753:0.0:0.7247:0.0	.	251;251	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	I	251	ENSP00000431083:V251I;ENSP00000367345:V251I	ENSP00000367345:V251I	V	+	1	0	PCDHGA1	140691186	0.007000	0.16637	0.067000	0.19924	0.015000	0.08874	0.106000	0.15354	1.133000	0.42147	0.655000	0.94253	GTC		0.493	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
RUFY1	80230	broad.mit.edu	37	5	179036447	179036447	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:179036447A>C	ENST00000319449.4	+	18	2066	c.2054A>C	c.(2053-2055)tAc>tCc	p.Y685S	RUFY1_ENST00000393438.2_Missense_Mutation_p.Y577S|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000437570.2_Missense_Mutation_p.Y577S|RUFY1_ENST00000508797.1_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	685					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCCCTCCTACCCCAAGCCG	0.647										HNSCC(44;0.11)																												uc003mka.1																			0				ovary(4)|breast(1)	5						c.(2053-2055)TAC>TCC		RUN and FYVE domain-containing 1 isoform a							64.0	49.0	54.0					5																	179036447		2203	4300	6503	SO:0001583	missense	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:179036447A>C	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.2054A>C	5.37:g.179036447A>C	ENSP00000325594:p.Tyr685Ser	HNSCC(44;0.11)				RUFY1_uc003mkb.1_Missense_Mutation_p.Y577S|RUFY1_uc003mkc.1_Missense_Mutation_p.Y577S|RUFY1_uc003mkd.1_Missense_Mutation_p.Y287S	p.Y685S	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		18	2054	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	685			FYVE-type.		Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	c.2054A>C	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	N	10.23	1.293385	0.23564	.	.	ENSG00000176783	ENST00000319449;ENST00000437570;ENST00000393438;ENST00000360569	T;T;T	0.70516	-0.49;-0.49;-0.49	5.23	5.23	0.72850	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	N	0.01417	-0.88	0.80722	D	1	B	0.27765	0.188	B	0.36666	0.23	T	0.52689	-0.8542	10	0.02654	T	1	-17.4777	15.4023	0.74852	1.0:0.0:0.0:0.0	.	685	Q96T51	RUFY1_HUMAN	S	685;577;577;287	ENSP00000325594:Y685S;ENSP00000390025:Y577S;ENSP00000377087:Y577S	ENSP00000325594:Y685S	Y	+	2	0	RUFY1	178969053	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.025000	0.70864	2.106000	0.64143	0.448000	0.29417	TAC		0.647	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451	
CARD11	84433	broad.mit.edu	37	7	2951813	2951813	+	Missense_Mutation	SNP	G	G	A	rs377327574		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:2951813G>A	ENST00000396946.4	-	23	3540	c.3137C>T	c.(3136-3138)gCc>gTc	p.A1046V		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1046	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CACCTTGGCGGCCACAGCTTC	0.602			Mis		DLBCL																																	uc003smv.2				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(3136-3138)GCC>GTC		caspase recruitment domain family, member 11		G	VAL/ALA	0,4406		0,0,2203	147.0	119.0	128.0		3137	4.5	0.8	7		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	CARD11	NM_032415.4	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1046/1155	2951813	1,13005	2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2951813G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.3137C>T	7.37:g.2951813G>A	ENSP00000380150:p.Ala1046Val						p.A1046V	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	23	3541	-		Ovarian(82;0.0115)	1046			Guanylate kinase-like.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.3137C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	9.925	1.213199	0.22289	0.0	1.16E-4	ENSG00000198286	ENST00000396946	T	0.16897	2.31	4.53	4.53	0.55603	.	0.285643	0.28026	N	0.016891	T	0.14570	0.0352	L	0.54323	1.7	0.41226	D	0.986548	B	0.23058	0.079	B	0.19148	0.024	T	0.04320	-1.0960	10	0.02654	T	1	-13.3817	12.943	0.58357	0.0:0.1619:0.8381:0.0	.	1046	Q9BXL7	CAR11_HUMAN	V	1046	ENSP00000380150:A1046V	ENSP00000380150:A1046V	A	-	2	0	CARD11	2918339	1.000000	0.71417	0.803000	0.32268	0.252000	0.25951	6.790000	0.75115	2.064000	0.61679	0.655000	0.94253	GCC		0.602	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415	
NXPH1	30010	broad.mit.edu	37	7	8791355	8791355	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:8791355G>A	ENST00000405863.1	+	3	1683	c.772G>A	c.(772-774)Gac>Aac	p.D258N	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.D141N	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	258	V (Cys-rich).					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AGTGTGCCCTGACTACAACTA	0.443																																						uc003srv.2																			0				ovary(1)|central_nervous_system(1)	2						c.(772-774)GAC>AAC		neurexophilin 1 precursor							30.0	27.0	28.0					7																	8791355		1898	4133	6031	SO:0001583	missense	30010					extracellular region		g.chr7:8791355G>A	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.772G>A	7.37:g.8791355G>A	ENSP00000384551:p.Asp258Asn					NXPH1_uc011jxh.1_Missense_Mutation_p.D141N	p.D258N	NM_152745	NP_689958	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	1683	+		Ovarian(82;0.0628)	258			V (Cys-rich).		Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	c.772G>A	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290112	0.80914	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.83492	0.5266	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84732	0.0746	9	0.87932	D	0	-15.3082	19.6556	0.95837	0.0:0.0:1.0:0.0	.	258	P58417	NXPH1_HUMAN	N	258;141	.	ENSP00000384551:D258N	D	+	1	0	NXPH1	8757880	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.623000	0.98386	2.882000	0.98803	0.655000	0.94253	GAC		0.443	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745	
ZNF713	349075	broad.mit.edu	37	7	56007178	56007178	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:56007178T>C	ENST00000429591.2	+	4	810	c.772T>C	c.(772-774)Tca>Cca	p.S258P	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGCCACACCTCATCTCTTAG	0.423																																						uc003trc.1																			0				ovary(2)	2						c.(772-774)TCA>CCA		zinc finger protein 713							57.0	59.0	58.0					7																	56007178		2203	4300	6503	SO:0001583	missense	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56007178T>C	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.772T>C	7.37:g.56007178T>C	ENSP00000416662:p.Ser258Pro					ZNF713_uc003tra.1_Missense_Mutation_p.S271P|MRPS17_uc003trb.2_Intron	p.S258P	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	810	+	Breast(14;0.214)		258						Missense_Mutation	SNP	ENST00000429591.2	37	c.772T>C	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	T	5.502	0.277581	0.10403	.	.	ENSG00000178665	ENST00000429591	T	0.18810	2.19	3.27	2.13	0.27403	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32416	N	0.006123	T	0.25680	0.0625	M	0.88181	2.935	0.09310	N	1	P	0.44521	0.837	B	0.37451	0.25	T	0.32161	-0.9917	10	0.87932	D	0	.	6.6377	0.22891	0.0:0.1205:0.0:0.8795	.	258	Q8N859	ZN713_HUMAN	P	258	ENSP00000416662:S258P	ENSP00000416662:S258P	S	+	1	0	ZNF713	55974672	0.002000	0.14202	0.391000	0.26233	0.015000	0.08874	0.394000	0.20834	0.656000	0.30886	0.482000	0.46254	TCA		0.423	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633	
AHCYL2	23382	broad.mit.edu	37	7	129062691	129062691	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:129062691G>T	ENST00000325006.3	+	13	1526	c.1472G>T	c.(1471-1473)cGg>cTg	p.R491L	AHCYL2_ENST00000531335.2_Missense_Mutation_p.R410L|AHCYL2_ENST00000446544.2_Missense_Mutation_p.R490L|AHCYL2_ENST00000446212.1_Missense_Mutation_p.R389L|AHCYL2_ENST00000490911.1_Missense_Mutation_p.R388L|AHCYL2_ENST00000474594.1_Missense_Mutation_p.R388L	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	491					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)	p.R491L(1)|p.R388L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GCGAGTCTGCGGACACCAGAA	0.507																																					Pancreas(160;1736 1964 29875 40941 45605)	uc011kov.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1471-1473)CGG>CTG		S-adenosylhomocysteine hydrolase-like 2 isoform							174.0	151.0	159.0					7																	129062691		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129062691G>T	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1472G>T	7.37:g.129062691G>T	ENSP00000315931:p.Arg491Leu					AHCYL2_uc003vot.2_Missense_Mutation_p.R490L|AHCYL2_uc003vov.2_Missense_Mutation_p.R388L|AHCYL2_uc011kow.1_Missense_Mutation_p.R389L|AHCYL2_uc011kox.1_Missense_Mutation_p.R388L	p.R491L	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN			13	1526	+			491					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.1472G>T	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.57|18.57	3.652830|3.652830	0.67472|0.67472	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	.|T;T;T;T;T;T	.|0.78364	.|-1.17;-1.17;-1.15;-1.14;-1.14;-1.14	5.37|5.37	5.37|5.37	0.77165|0.77165	.|S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.75946	.|0.3919	L|L	0.55017|0.55017	1.72|1.72	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;B;B;B	.|0.17667	.|0.002;0.002;0.023;0.002;0.018	.|B;B;B;B;B	.|0.16722	.|0.01;0.01;0.016;0.01;0.009	.|T	.|0.73512	.|-0.3959	.|10	.|0.87932	.|D	.|0	-15.6671|-15.6671	17.6687|17.6687	0.88210|0.88210	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|388;389;491;388;490	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	X|L	398|491;490;410;388;389;388	.|ENSP00000315931:R491L;ENSP00000413639:R490L;ENSP00000431787:R410L;ENSP00000420459:R388L;ENSP00000405267:R389L;ENSP00000420801:R388L	.|ENSP00000315931:R491L	G|R	+|+	1|2	0|0	AHCYL2|AHCYL2	128849927|128849927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.005000|8.005000	0.88553|0.88553	2.510000|2.510000	0.84645|0.84645	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.507	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1		
TP53INP1	94241	broad.mit.edu	37	8	95952365	95952365	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr8:95952365A>G	ENST00000342697.4	-	3	603	c.196T>C	c.(196-198)Ttt>Ctt	p.F66L	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Missense_Mutation_p.F66L|TP53INP1_ENST00000448464.2_Missense_Mutation_p.F66L	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	66					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					AAACAGGAAAAGACTGAAGGG	0.463																																						uc003yhg.2																			0					0						c.(196-198)TTT>CTT		tumor protein p53 inducible nuclear protein 1							120.0	128.0	125.0					8																	95952365		2203	4300	6503	SO:0001583	missense	94241				apoptosis	PML body		g.chr8:95952365A>G	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.196T>C	8.37:g.95952365A>G	ENSP00000344215:p.Phe66Leu					C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_Missense_Mutation_p.F66L	p.F66L	NM_033285	NP_150601	Q96A56	T53I1_HUMAN			3	580	-	Breast(36;8.75e-07)		66					B2RCE5|Q969R9	Missense_Mutation	SNP	ENST00000342697.4	37	c.196T>C	CCDS6265.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.132953	0.37630	.	.	ENSG00000164938	ENST00000448464;ENST00000342697;ENST00000378776	T;T;T	0.41400	1.0;1.0;1.0	6.17	6.17	0.99709	.	0.111686	0.64402	D	0.000007	T	0.33760	0.0874	L	0.41236	1.265	0.42276	D	0.992077	B;B	0.24768	0.055;0.111	B;B	0.26416	0.051;0.069	T	0.16335	-1.0406	10	0.21014	T	0.42	-7.8045	11.0511	0.47889	0.9315:0.0:0.0685:0.0	.	66;66	Q96A56-2;Q96A56	.;T53I1_HUMAN	L	66	ENSP00000390063:F66L;ENSP00000344215:F66L;ENSP00000368052:F66L	ENSP00000344215:F66L	F	-	1	0	TP53INP1	96021541	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.250000	0.65432	2.371000	0.80710	0.533000	0.62120	TTT		0.463	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1		
TBC1D31	93594	broad.mit.edu	37	8	124140520	124140521	+	Splice_Site	INS	-	-	T	rs570441854		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31							centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTTCTTACAGTTTTTTTTTCA	0.322																																						uc003ypp.1																			0				skin(1)	1						c.e14-1		WD repeat domain 67 isoform 1			,	6,4258		0,6,2126					,	5.7	1.0			76	8,8246		0,8,4119	no	frameshift-near-splice,frameshift-near-splice	WDR67	NM_145647.3,NM_001145088.1	,	0,14,6245	A1A1,A1R,RR		0.0969,0.1407,0.1118	,	,		14,12504				SO:0001630	splice_region_variant	93594					centrosome	Rab GTPase activator activity	g.chr8:124140520_124140521insT	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1885-1->T	8.37:g.124140529_124140529dupT						WDR67_uc011lig.1_Splice_Site_p.F629_splice|WDR67_uc011lih.1_Splice_Site_p.F519_splice|WDR67_uc003ypq.1_Splice_Site|WDR67_uc003yps.1_Intron|WDR67_uc003ypt.1_Splice_Site_p.F86_splice|WDR67_uc003ypu.1_Splice_Site_p.F86_splice	p.F629_splice	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		14	1975	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)							B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Splice_Site	INS	ENST00000287380.1	37	c.1885_splice	CCDS6338.1																																																																																				0.322	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	Intron
CYP11B1	1584	broad.mit.edu	37	8	143956491	143956491	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr8:143956491C>G	ENST00000292427.4	-	8	1312	c.1280G>C	c.(1279-1281)cGc>cCc	p.R427P	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R498P|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	427					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.R427H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GTCTAGCCAGCGCTGGGGGTT	0.647									Familial Hyperaldosteronism type I																													uc003yxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3	GRCh37	CM960470	CYP11B1	M		c.(1279-1281)CGC>CCC		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						80.0	87.0	85.0					8																	143956491		2203	4300	6503	SO:0001583	missense	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143956491C>G	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1280G>C	8.37:g.143956491C>G	ENSP00000292427:p.Arg427Pro					CYP11B1_uc010mex.2_Missense_Mutation_p.R126P|CYP11B1_uc003yxh.2_Intron|CYP11B1_uc003yxj.2_Intron|CYP11B1_uc010mey.2_Missense_Mutation_p.R498P	p.R427P	NM_000497	NP_000488	P15538	C11B1_HUMAN			8	1287	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		427					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1280G>C	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	17.85	3.490903	0.64074	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000377675	T;D;D	0.90563	-0.75;-2.69;-2.69	4.22	4.22	0.49857	.	0.000000	0.51477	D	0.000086	D	0.97046	0.9035	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98348	1.0542	10	0.87932	D	0	.	14.4165	0.67153	0.0:1.0:0.0:0.0	.	498;427;427	Q4VAR0;Q8TDD0;P15538	.;.;C11B1_HUMAN	P	105;427;498	ENSP00000430144:R105P;ENSP00000292427:R427P;ENSP00000366903:R498P	ENSP00000292427:R427P	R	-	2	0	CYP11B1	143953493	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	4.592000	0.61027	2.059000	0.61396	0.561000	0.74099	CGC		0.647	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2		
C9orf64	84267	broad.mit.edu	37	9	86571236	86571236	+	Silent	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr9:86571236G>A	ENST00000376344.3	-	1	396	c.180C>T	c.(178-180)gcC>gcT	p.A60A	C9orf64_ENST00000376340.2_5'UTR|C9orf64_ENST00000314700.1_Intron	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	60										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CGGCCTCGTCGGCCGCCCTGG	0.647																																						uc004anb.2																			0					0						c.(178-180)GCC>GCT		hypothetical protein LOC84267							63.0	65.0	65.0					9																	86571236		1987	4159	6146	SO:0001819	synonymous_variant	84267							g.chr9:86571236G>A	AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.180C>T	9.37:g.86571236G>A						C9orf64_uc004anc.2_Intron	p.A60A	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN			1	428	-			60					B2RPI6|Q8N2B1|Q9BT18	Silent	SNP	ENST00000376344.3	37	c.180C>T	CCDS6666.2																																																																																				0.647	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307	
SEC16A	9919	broad.mit.edu	37	9	139369673	139369673	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr9:139369673C>G	ENST00000371706.3	-	1	1894	c.1861G>C	c.(1861-1863)Gag>Cag	p.E621Q	SEC16A_ENST00000431893.2_Missense_Mutation_p.E621Q|SEC16A_ENST00000290037.6_Missense_Mutation_p.E621Q|SEC16A_ENST00000313050.7_Missense_Mutation_p.E799Q			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	621					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCCTCCTCCTCTCCCATTTTG	0.572																																						uc004chx.2																			0					0						c.(2395-2397)GAG>CAG		SEC16 homolog A							30.0	32.0	32.0					9																	139369673		1965	4155	6120	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139369673C>G	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.1861G>C	9.37:g.139369673C>G	ENSP00000360771:p.Glu621Gln					SEC16A_uc004chv.3_Missense_Mutation_p.E426Q|SEC16A_uc004chw.2_Missense_Mutation_p.E799Q|SEC16A_uc010nbn.2_Missense_Mutation_p.E799Q|SEC16A_uc010nbo.1_Missense_Mutation_p.E799Q	p.E799Q	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	3	2704	-		Myeloproliferative disorder(178;0.0511)	621					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.2395G>C		.	.	.	.	.	.	.	.	.	.	C	25.5	4.644442	0.87859	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T	0.29655	1.56;1.56;1.56;1.57	5.37	5.37	0.77165	.	0.257144	0.38778	N	0.001579	T	0.52191	0.1719	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.61080	0.981;0.989;0.989;0.966	P;P;P;P	0.58266	0.69;0.836;0.836;0.598	T	0.52139	-0.8615	10	0.54805	T	0.06	-6.7281	18.4795	0.90806	0.0:1.0:0.0:0.0	.	799;621;621;426	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	Q	799;621;621;621;426	ENSP00000325827:E799Q;ENSP00000360771:E621Q;ENSP00000290037:E621Q;ENSP00000387583:E621Q	ENSP00000290037:E621Q	E	-	1	0	SEC16A	138489494	1.000000	0.71417	0.066000	0.19879	0.953000	0.61014	5.137000	0.64789	2.688000	0.91661	0.645000	0.84053	GAG		0.572	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459	
TUBBP5	643224	broad.mit.edu	37	9	141071110	141071110	+	RNA	SNP	A	A	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr9:141071110A>G	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.P243P(7)									TGCGCTTCCCAGGCCAGCTGA	0.597																																						uc004com.2																			7	Substitution - coding silent(7)		kidney(3)|prostate(2)|endometrium(2)		0						c.(511-513)CCA>CCG		RecName: Full=Putative tubulin beta-4q chain;																																						643224							g.chr9:141071110A>G	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071110A>G						TUBBP5_uc010ncq.2_3'UTR	p.P171P							4	774	+									Silent	SNP	ENST00000503395.1	37	c.513A>G																																																																																					0.597	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
MAGT1	84061	broad.mit.edu	37	X	77109426	77109426	+	Silent	SNP	T	T	C			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chrX:77109426T>C	ENST00000358075.6	-	7	980	c.894A>G	c.(892-894)gtA>gtG	p.V298V		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	266					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GTGTTTCAGCTACAAACTGGG	0.348																																						uc004fof.2																			0				upper_aerodigestive_tract(1)	1						c.(892-894)GTA>GTG		magnesium transporter 1							136.0	121.0	126.0					X																	77109426		2203	4296	6499	SO:0001819	synonymous_variant	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77109426T>C		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.894A>G	X.37:g.77109426T>C						MAGT1_uc004fog.3_Intron	p.V298V	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN			7	956	-			266					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Silent	SNP	ENST00000358075.6	37	c.894A>G	CCDS14436.2																																																																																				0.348	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057301.2	NM_032121	
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						uc004fev.3																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(685-687)GCTdel		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			9	1017_1019	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493	
