#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
WHAMMP3	339005	broad.mit.edu	37	15	23205098	23205098	+	RNA	SNP	G	G	A	rs146035894	byFrequency	TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr15:23205098G>A	ENST00000400153.2	-	0	756					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		CTGGAAGAACGTGGTTGCCAC	0.373													a|||	60	0.0119808	0.0401	0.0043	5008	,	,		17673	0.002		0.001	False		,,,				2504	0.001					ENST00000400153.2																			0																																																			0							g.chr15:23205098G>A	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205098G>A								NR_003521.1						0	756	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.373	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	33	0	0	0	1	0	3	33				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		6	125	0	0	0	1	0	6	125				
PCSK9	255738	broad.mit.edu	37	1	55523717	55523717	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr1:55523717G>A	ENST00000302118.5	+	8	1479	c.1189G>A	c.(1189-1191)Gcc>Acc	p.A397T	PCSK9_ENST00000543384.1_Missense_Mutation_p.A197T|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	397	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						AGGCATTGCAGCCATGATGCT	0.602																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(1189-1191)Gcc>Acc		proprotein convertase subtilisin/kexin type 9							67.0	62.0	64.0					1																	55523717		2203	4300	6503	SO:0001583	missense	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55523717G>A	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1189G>A	1.37:g.55523717G>A	ENSP00000303208:p.Ala397Thr					PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.A197T	p.A397T	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			8	1479	+			397			Peptidase S8.		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	c.1189G>A	CCDS603.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.606022	0.46527	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.90133	-2.62;-2.62	4.39	2.47	0.30058	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.127468	0.50627	N	0.000102	D	0.90259	0.6954	M	0.88775	2.98	0.29152	N	0.878326	B	0.28419	0.211	B	0.26310	0.068	D	0.84686	0.0720	10	0.51188	T	0.08	-15.9575	9.4212	0.38553	0.08:0.1448:0.7752:0.0	.	397	Q8NBP7	PCSK9_HUMAN	T	397;197	ENSP00000303208:A397T;ENSP00000441859:A197T	ENSP00000303208:A397T	A	+	1	0	PCSK9	55296305	0.973000	0.33851	0.001000	0.08648	0.089000	0.18198	2.531000	0.45650	0.382000	0.24878	0.563000	0.77884	GCC		0.602	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		4	104	0	0	0	1	0	4	104				
GLI2	2736	broad.mit.edu	37	2	121685032	121685032	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs531807595		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr2:121685032G>A	ENST00000314490.11	+	0	274				GLI2_ENST00000361492.4_Missense_Mutation_p.G82S|GLI2_ENST00000452319.1_Missense_Mutation_p.G82S|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTCTGTCCACGGTGTGCACGG	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17852	0.0		0.0	False		,,,				2504	0.001					ENST00000314490.11																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64								GLI family zinc finger 2							227.0	177.0	194.0					2																	121685032		2203	4300	6503			2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121685032G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000314490.11:c.-741G>A	2.37:g.121685032G>A						GLI2_ENST00000361492.4_Missense_Mutation_p.G82S|GLI2_ENST00000452319.1_Missense_Mutation_p.G82S|GLI2_ENST00000435313.2_3'UTR				P10070	GLI2_HUMAN			0	274	+	Renal(3;0.0496)	Prostate(154;0.0623)							Translation_Start_Site	SNP	ENST00000314490.11	37			.	.	.	.	.	.	.	.	.	.	G	13.51	2.259491	0.39995	.	.	ENSG00000074047	ENST00000418323;ENST00000452319;ENST00000361492;ENST00000440937;ENST00000360874	T;T;T	0.68479	-0.33;-0.33;-0.33	5.24	0.807	0.18714	.	0.697293	0.13212	N	0.405070	T	0.35307	0.0927	N	0.01874	-0.695	0.80722	D	1	B;B;B;B	0.25007	0.003;0.041;0.001;0.116	B;B;B;B	0.12837	0.007;0.005;0.0;0.008	T	0.05354	-1.0890	10	0.20519	T	0.43	.	10.7495	0.46200	0.2698:0.0:0.7302:0.0	.	82;82;82;82	B4DT63;P10070;Q0VGA0;F5H4D9	.;GLI2_HUMAN;.;.	S	82;82;82;82;74	ENSP00000390436:G82S;ENSP00000354586:G82S;ENSP00000441454:G74S	ENSP00000441454:G74S	G	+	1	0	GLI2	121401502	1.000000	0.71417	0.454000	0.27019	0.943000	0.58893	1.678000	0.37586	-0.163000	0.10946	0.563000	0.77884	GGT		0.622	GLI2-201	KNOWN	basic	protein_coding	protein_coding		NM_005270		35	212	0	0	0	1	0	35	212				
HSPA13	6782	broad.mit.edu	37	21	15750617	15750617	+	Silent	SNP	T	T	C			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr21:15750617T>C	ENST00000285667.3	-	3	550	c.483A>G	c.(481-483)gcA>gcG	p.A161A	HSPA13_ENST00000478035.1_5'Flank|HSPA13_ENST00000544452.1_Intron	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	161						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TTCCAAGATATGCCTCTGCCA	0.408																																						ENST00000285667.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(481-483)gcA>gcG		heat shock protein 70kDa family, member 13							116.0	103.0	107.0					21																	15750617		2203	4300	6503	SO:0001819	synonymous_variant	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15750617T>C		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.483A>G	21.37:g.15750617T>C						HSPA13_ENST00000544452.1_Intron	p.A161A	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN			3	550	-			161					B2R616|Q8NE40	Silent	SNP	ENST00000285667.3	37	c.483A>G	CCDS13567.1																																																																																				0.408	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			83	113	0	0	0	1	0	83	113				
C7	730	broad.mit.edu	37	5	40959677	40959677	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:40959677C>T	ENST00000313164.9	+	12	1975	c.1616C>T	c.(1615-1617)aCg>aTg	p.T539M		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	539	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.T539M(1)					Ovarian(839;0.0112)				GTTGGAGAAACGACAGAAAGC	0.542																																						ENST00000313164.9																			1	Substitution - Missense(1)	p.T539M(1)	kidney(1)								c.(1615-1617)aCg>aTg		complement component 7							70.0	79.0	76.0					5																	40959677		2005	4179	6184	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40959677C>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1616C>T	5.37:g.40959677C>T	ENSP00000322061:p.Thr539Met						p.T539M	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			12	1975	+		Ovarian(839;0.0112)	539			TSP type-1 2.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.1616C>T	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091574	0.36952	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.54675	0.56	5.4	5.4	0.78164	.	1.311320	0.04932	N	0.457025	T	0.67496	0.2899	L	0.52266	1.64	0.09310	N	1	D	0.63880	0.993	P	0.57846	0.828	T	0.58736	-0.7584	10	0.48119	T	0.1	0.0112	14.9329	0.70929	0.152:0.848:0.0:0.0	.	539	P10643	CO7_HUMAN	M	539;379	ENSP00000322061:T539M	ENSP00000322061:T539M	T	+	2	0	C7	40995434	0.000000	0.05858	0.031000	0.17742	0.117000	0.20001	1.112000	0.31172	2.538000	0.85594	0.462000	0.41574	ACG		0.542	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			11	29	0	0	0	1	0	11	29				
TGOLN2	10618	broad.mit.edu	37	2	85554633	85554633	+	Silent	SNP	C	C	T	rs556852343		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr2:85554633C>T	ENST00000409232.3	-	2	283	c.222G>A	c.(220-222)gcG>gcA	p.A74A	TGOLN2_ENST00000409015.1_Silent_p.A74A|TGOLN2_ENST00000377386.3_Silent_p.A74A|TGOLN2_ENST00000444342.2_Silent_p.A74A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Silent_p.A74A			O43493	TGON2_HUMAN	trans-golgi network protein 2	74	14 X 14 AA tandem repeats.			A -> P (in Ref. 4; BAD96783). {ECO:0000305}.		Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CTGGGGTCTGCGCCTCCGCAC	0.607																																						ENST00000377386.3																			0											c.(220-222)gcG>gcA		trans-golgi network protein 2							175.0	176.0	176.0					2																	85554633		1949	4138	6087	SO:0001819	synonymous_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554633C>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.222G>A	2.37:g.85554633C>T						TGOLN2_ENST00000409232.3_Silent_p.A74A|TGOLN2_ENST00000409015.1_Silent_p.A74A|TGOLN2_ENST00000398263.2_Silent_p.A74A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.A74A	p.A74A			O43493	TGON2_HUMAN			2	684	-			74	A -> P (in Ref. 4; BAD96783).		14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	ENST00000409232.3	37	c.222G>A	CCDS56126.1																																																																																				0.607	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		7	715	0	0	0	1	0	7	715				
TRANK1	9881	broad.mit.edu	37	3	36896948	36896948	+	Missense_Mutation	SNP	G	G	A	rs199834799		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr3:36896948G>A	ENST00000429976.2	-	12	4380	c.4133C>T	c.(4132-4134)tCg>tTg	p.S1378L	TRANK1_ENST00000428977.2_Missense_Mutation_p.S828L|TRANK1_ENST00000301807.6_Missense_Mutation_p.S828L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1378							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTGAGCTTCGACAGCCTCCG	0.488																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(4132-4134)tCg>tTg		tetratricopeptide repeat and ankyrin repeat containing 1		G	LEU/SER	0,4102		0,0,2051	123.0	125.0	124.0		4133	4.2	1.0	3		124	1,8387		0,1,4193	yes	missense	TRANK1	NM_014831.2	145	0,1,6244	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging	1378/2926	36896948	1,12489	2051	4194	6245	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36896948G>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.4133C>T	3.37:g.36896948G>A	ENSP00000416168:p.Ser1378Leu					TRANK1_ENST00000428977.2_Missense_Mutation_p.S828L|TRANK1_ENST00000301807.6_Missense_Mutation_p.S828L	p.S1378L			O15050	TRNK1_HUMAN			12	4380	-			1378					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.4133C>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716569	0.30413	0.0	1.19E-4	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.82344	-1.6;-1.6;-1.6	5.06	4.18	0.49190	.	0.269718	0.26578	N	0.023600	T	0.73885	0.3644	L	0.28115	0.83	0.40570	D	0.981293	B	0.17268	0.021	B	0.15052	0.012	T	0.70821	-0.4768	10	0.45353	T	0.12	.	14.0642	0.64819	0.0739:0.0:0.9261:0.0	.	1378	O15050	TRNK1_HUMAN	L	828;1378;828	ENSP00000416826:S828L;ENSP00000416168:S1378L;ENSP00000301807:S828L	ENSP00000301807:S828L	S	-	2	0	TRANK1	36871952	0.835000	0.29415	0.988000	0.46212	0.963000	0.63663	3.640000	0.54350	1.454000	0.47793	0.561000	0.74099	TCG		0.488	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		115	196	0	0	0	1	0	115	196				
MUC17	140453	broad.mit.edu	37	7	100676201	100676201	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr7:100676201C>T	ENST00000306151.4	+	3	1568	c.1504C>T	c.(1504-1506)Cca>Tca	p.P502S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	502	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAACAGCATGCCAACCTCAAC	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(1504-1506)Cca>Tca		mucin 17, cell surface associated							310.0	314.0	312.0					7																	100676201		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676201C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1504C>T	7.37:g.100676201C>T	ENSP00000302716:p.Pro502Ser						p.P502S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	1568	+	Lung NSC(181;0.136)|all_lung(186;0.182)		502			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1504C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.594	-0.528324	0.04112	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	1.24	-1.29	0.09288	.	.	.	.	.	T	0.01695	0.0054	N	0.12182	0.205	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.48725	-0.9010	9	0.08599	T	0.76	.	3.9149	0.09219	0.0:0.5609:0.2495:0.1896	.	502	Q685J3	MUC17_HUMAN	S	502	ENSP00000302716:P502S	ENSP00000302716:P502S	P	+	1	0	MUC17	100462921	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.113000	0.15499	-0.359000	0.08150	0.501000	0.49751	CCA		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	948	0	0	0	1	0	6	948				
ITGBL1	9358	broad.mit.edu	37	13	102227854	102227854	+	Silent	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr13:102227854C>T	ENST00000376180.3	+	4	762	c.543C>T	c.(541-543)gaC>gaT	p.D181D	ITGBL1_ENST00000545560.2_Silent_p.D40D|ITGBL1_ENST00000376162.3_Silent_p.D88D	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	181	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGAGTGTGACGATAGAGAAT	0.348																																						ENST00000376180.3																			0				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31						c.(541-543)gaC>gaT		integrin, beta-like 1 (with EGF-like repeat domains)							263.0	241.0	249.0					13																	102227854		2203	4300	6503	SO:0001819	synonymous_variant	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102227854C>T	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.543C>T	13.37:g.102227854C>T						ITGBL1_ENST00000376162.3_Silent_p.D88D|ITGBL1_ENST00000545560.2_Silent_p.D40D	p.D181D	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN			4	762	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		181			Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Silent	SNP	ENST00000376180.3	37	c.543C>T	CCDS9499.1																																																																																				0.348	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		11	364	0	0	0	1	0	11	364				
TRANK1	9881	broad.mit.edu	37	3	36899337	36899337	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr3:36899337T>C	ENST00000429976.2	-	12	1991	c.1744A>G	c.(1744-1746)Aaa>Gaa	p.K582E	TRANK1_ENST00000428977.2_Missense_Mutation_p.K32E|TRANK1_ENST00000301807.6_Missense_Mutation_p.K32E	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	582							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGCCCTCTTTGTTCTTCAGA	0.512																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(1744-1746)Aaa>Gaa		tetratricopeptide repeat and ankyrin repeat containing 1							130.0	125.0	126.0					3																	36899337		1984	4176	6160	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36899337T>C	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.1744A>G	3.37:g.36899337T>C	ENSP00000416168:p.Lys582Glu					TRANK1_ENST00000428977.2_Missense_Mutation_p.K32E|TRANK1_ENST00000301807.6_Missense_Mutation_p.K32E	p.K582E			O15050	TRNK1_HUMAN			12	1991	-			582					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.1744A>G	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	27.3	4.817664	0.90790	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.54866	1.93;0.55;1.93	5.6	5.6	0.85130	Ankyrin repeat-containing domain (3);	0.109140	0.39544	N	0.001324	T	0.48768	0.1518	L	0.49126	1.545	0.46011	D	0.998815	P	0.42871	0.792	B	0.37731	0.257	T	0.54403	-0.8299	10	0.56958	D	0.05	.	16.0918	0.81094	0.0:0.0:0.0:1.0	.	582	O15050	TRNK1_HUMAN	E	32;582;32	ENSP00000416826:K32E;ENSP00000416168:K582E;ENSP00000301807:K32E	ENSP00000301807:K32E	K	-	1	0	TRANK1	36874341	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.093000	0.71422	2.274000	0.75844	0.533000	0.62120	AAA		0.512	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		5	273	0	0	0	1	0	5	273				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000583206.1_5'Flank	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		4	136	0	0	0	1	0	4	136				
ST8SIA4	7903	broad.mit.edu	37	5	100222198	100222198	+	Silent	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:100222198G>A	ENST00000231461.5	-	3	662	c.352C>T	c.(352-354)Cta>Tta	p.L118L	ST8SIA4_ENST00000451528.2_Silent_p.L118L|ST8SIA4_ENST00000507360.2_5'UTR	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	118					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GAAATGTTTAGTGTCCGGCGC	0.438																																						ENST00000231461.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(352-354)Cta>Tta		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4							141.0	135.0	137.0					5																	100222198		2203	4300	6503	SO:0001819	synonymous_variant	7903				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr5:100222198G>A	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.352C>T	5.37:g.100222198G>A						ST8SIA4_ENST00000507360.2_5'UTR|ST8SIA4_ENST00000451528.2_Silent_p.L118L	p.L118L	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN		COAD - Colon adenocarcinoma(37;0.00402)	3	662	-		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)	118					A8KA07|G3V104|Q8N1F4|Q92693	Silent	SNP	ENST00000231461.5	37	c.352C>T	CCDS4091.1																																																																																				0.438	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		61	206	0	0	0	1	0	61	206				
TRIM55	84675	broad.mit.edu	37	8	67039513	67039513	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:67039513T>C	ENST00000315962.4	+	1	383	c.10T>C	c.(10-12)Tct>Cct	p.S4P	TRIM55_ENST00000276573.7_Missense_Mutation_p.S4P|TRIM55_ENST00000353317.5_Missense_Mutation_p.S4P|TRIM55_ENST00000350034.4_Missense_Mutation_p.S4P	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	4					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GATGAGCGCATCTCTGAATTA	0.483																																						ENST00000315962.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39						c.(10-12)Tct>Cct		tripartite motif containing 55							111.0	110.0	110.0					8																	67039513		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67039513T>C	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.10T>C	8.37:g.67039513T>C	ENSP00000323913:p.Ser4Pro					TRIM55_ENST00000353317.5_Missense_Mutation_p.S4P|TRIM55_ENST00000350034.4_Missense_Mutation_p.S4P|TRIM55_ENST00000276573.7_Missense_Mutation_p.S4P	p.S4P	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		1	383	+		Lung NSC(129;0.138)|all_lung(136;0.221)	4					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.10T>C	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.031338	0.54790	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.39787	1.41;1.5;1.4;1.06	5.72	5.72	0.89469	.	0.217259	0.49305	D	0.000152	T	0.28699	0.0711	N	0.08118	0	0.42845	D	0.994062	B;B;B;B	0.19935	0.005;0.017;0.023;0.04	B;B;B;B	0.25614	0.006;0.037;0.028;0.062	T	0.12426	-1.0548	10	0.62326	D	0.03	.	16.0101	0.80396	0.0:0.0:0.0:1.0	.	4;4;4;4	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	P	4	ENSP00000323913:S4P;ENSP00000297348:S4P;ENSP00000276573:S4P;ENSP00000332302:S4P	ENSP00000276573:S4P	S	+	1	0	TRIM55	67202067	1.000000	0.71417	0.979000	0.43373	0.922000	0.55478	4.196000	0.58407	2.171000	0.68590	0.533000	0.62120	TCT		0.483	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		32	131	0	0	0	1	0	32	131				
EPHA5	2044	broad.mit.edu	37	4	66213865	66213865	+	Silent	SNP	A	A	G			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr4:66213865A>G	ENST00000273854.3	-	15	3165	c.2565T>C	c.(2563-2565)ttT>ttC	p.F855F	EPHA5_ENST00000354839.4_Silent_p.F833F|EPHA5_ENST00000511294.1_Silent_p.F856F|EPHA5_ENST00000432638.2_Silent_p.F692F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	855	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGGCAGAAGTAAACTTTCGGA	0.388										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(2563-2565)ttT>ttC		EPH receptor A5							142.0	138.0	139.0					4																	66213865		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66213865A>G	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2565T>C	4.37:g.66213865A>G		TSP Lung(17;0.13)				EPHA5_ENST00000354839.4_Silent_p.F833F|EPHA5_ENST00000511294.1_Silent_p.F856F|EPHA5_ENST00000432638.2_Silent_p.F692F	p.F855F	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			15	3165	-			855			Protein kinase.		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.2565T>C	CCDS3513.1																																																																																				0.388	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		4	204	0	0	0	1	0	4	204				
TSSC2	650368	broad.mit.edu	37	11	3424149	3424149	+	RNA	SNP	C	C	T	rs112841660	byFrequency	TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr11:3424149C>T	ENST00000529482.1	+	0	808									tumor suppressing subtransferable candidate 2 pseudogene																		TCATAGAGGACGAAGACTTCT	0.562													N|||	17	0.00339457	0.0113	0.0029	5008	,	,		17237	0.0		0.0	False		,,,				2504	0.0					ENST00000529482.1																			0																																																			0							g.chr11:3424149C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3424149C>T														0	808	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.562	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	48	0	0	0	1	0	3	48				
DSC1	1823	broad.mit.edu	37	18	28710645	28710645	+	Silent	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr18:28710645C>T	ENST00000257198.5	-	16	2778	c.2517G>A	c.(2515-2517)gaG>gaA	p.E839E	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR|RP11-408H20.3_ENST00000582307.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	839					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AATGTTTATGCTCCTCATCTT	0.388																																						ENST00000257198.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2515-2517)gaG>gaA		desmocollin 1							121.0	120.0	120.0					18																	28710645		2203	4300	6503	SO:0001819	synonymous_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28710645C>T	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2517G>A	18.37:g.28710645C>T						DSC1_ENST00000257197.3_3'UTR|RP11-408H20.2_ENST00000581836.1_RNA	p.E839E	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		16	2778	-			839					Q9HB01	Silent	SNP	ENST00000257198.5	37	c.2517G>A	CCDS11894.1																																																																																				0.388	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		4	158	0	0	0	1	0	4	158				
NR3C1	2908	broad.mit.edu	37	5	142780104	142780104	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:142780104C>T	ENST00000343796.2	-	2	1294	c.301G>A	c.(301-303)Gac>Aac	p.D101N	NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000415690.2_Missense_Mutation_p.D101N|NR3C1_ENST00000503201.1_Missense_Mutation_p.D101N|NR3C1_ENST00000394466.2_Missense_Mutation_p.D101N|NR3C1_ENST00000504572.1_Missense_Mutation_p.D101N|NR3C1_ENST00000231509.3_Missense_Mutation_p.D101N|NR3C1_ENST00000394464.2_Missense_Mutation_p.D101N|NR3C1_ENST00000424646.2_Missense_Mutation_p.D101N	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	101	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	AATCCCAGGTCATTTCCCATC	0.483																																						ENST00000343796.2																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(301-303)Gac>Aac		nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)						123.0	138.0	133.0					5																	142780104		2203	4300	6503	SO:0001583	missense	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142780104C>T	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.301G>A	5.37:g.142780104C>T	ENSP00000343205:p.Asp101Asn					NR3C1_ENST00000394466.2_Missense_Mutation_p.D101N|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394464.2_Missense_Mutation_p.D101N|NR3C1_ENST00000424646.2_Missense_Mutation_p.D101N|NR3C1_ENST00000231509.3_Missense_Mutation_p.D101N|NR3C1_ENST00000415690.2_Missense_Mutation_p.D101N|NR3C1_ENST00000503201.1_Missense_Mutation_p.D101N|NR3C1_ENST00000504572.1_Missense_Mutation_p.D101N	p.D101N	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	1294	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	101			Modulating.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	c.301G>A	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483589	0.84854	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201;ENST00000510170;ENST00000508760;ENST00000502892;ENST00000514699;ENST00000502500	T;T;T;T;T;T;T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.14	5.14	0.70334	.	0.325783	0.35436	N	0.003202	T	0.64494	0.2603	M	0.80183	2.485	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.995	D;D;D	0.85130	0.935;0.997;0.935	T	0.69672	-0.5082	10	0.72032	D	0.01	.	18.6301	0.91357	0.0:1.0:0.0:0.0	.	101;101;101	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	N	101	ENSP00000377977:D101N;ENSP00000343205:D101N;ENSP00000387672:D101N;ENSP00000405282:D101N;ENSP00000422518:D101N;ENSP00000377979:D101N;ENSP00000231509:D101N;ENSP00000427672:D101N;ENSP00000424747:D101N;ENSP00000425313:D101N;ENSP00000420856:D101N;ENSP00000426478:D101N;ENSP00000425374:D101N	ENSP00000231509:D101N	D	-	1	0	NR3C1	142760297	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.918000	0.63376	2.400000	0.81607	0.561000	0.74099	GAC		0.483	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			17	288	0	0	0	1	0	17	288				
HMHA1	23526	broad.mit.edu	37	19	1080922	1080922	+	Silent	SNP	G	G	A	rs199528174		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:1080922G>A	ENST00000313093.2	+	17	2280	c.2049G>A	c.(2047-2049)ccG>ccA	p.P683P	HMHA1_ENST00000590214.1_Silent_p.P710P|HMHA1_ENST00000586866.1_Silent_p.P687P|HMHA1_ENST00000543365.1_Silent_p.P566P|HMHA1_ENST00000536472.1_Silent_p.P551P|HMHA1_ENST00000539243.2_Silent_p.P699P|HMHA1_ENST00000590577.1_Silent_p.P318P	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	683					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGAGCTGCCGGTGGCCGTGC	0.701													g|||	1	0.000199681	0.0008	0.0	5008	,	,		12869	0.0		0.0	False		,,,				2504	0.0					ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(2047-2049)ccG>ccA		histocompatibility (minor) HA-1							14.0	16.0	15.0					19																	1080922		2193	4288	6481	SO:0001819	synonymous_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1080922G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2049G>A	19.37:g.1080922G>A						HMHA1_ENST00000536472.1_Silent_p.P551P|HMHA1_ENST00000539243.2_Silent_p.P699P|HMHA1_ENST00000590577.1_Silent_p.P318P|HMHA1_ENST00000543365.1_Silent_p.P566P|HMHA1_ENST00000590214.1_Silent_p.P710P|HMHA1_ENST00000586866.1_Silent_p.P687P	p.P683P	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	17	2280	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	683					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	c.2049G>A	CCDS32863.1																																																																																				0.701	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			15	25	0	0	0	1	0	15	25				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			0							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	250	0	0	0	1	0	4	250				
GLUD1	2746	broad.mit.edu	37	10	88836407	88836407	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr10:88836407C>T	ENST00000277865.4	-	2	548	c.452G>A	c.(451-453)cGt>cAt	p.R151H	GLUD1_ENST00000544149.1_Missense_Mutation_p.R18H|GLUD1_ENST00000537649.1_5'UTR	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	151					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	AGTGCTGTAACGGATACCTGG	0.403																																						ENST00000277865.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22						c.(451-453)cGt>cAt		glutamate dehydrogenase 1	L-Glutamic Acid(DB00142)|NADH(DB00157)						109.0	94.0	99.0					10																	88836407		2203	4300	6503	SO:0001583	missense	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88836407C>T	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.452G>A	10.37:g.88836407C>T	ENSP00000277865:p.Arg151His					GLUD1_ENST00000537649.1_5'UTR|GLUD1_ENST00000544149.1_Missense_Mutation_p.R18H	p.R151H	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN			2	548	-			151					B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	c.452G>A	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875924	0.91664	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000513510;ENST00000544149	D;D	0.99259	-5.64;-5.23	4.8	4.8	0.61643	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.101407	0.64402	D	0.000001	D	0.99771	0.9906	H	0.99863	4.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.96519	0.9384	10	0.87932	D	0	.	17.8009	0.88586	0.0:1.0:0.0:0.0	.	18;151	B4DGN5;P00367	.;DHE3_HUMAN	H	151;108;83;18	ENSP00000277865:R151H;ENSP00000444732:R18H	ENSP00000277865:R151H	R	-	2	0	GLUD1	88826387	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.274000	0.78538	2.383000	0.81215	0.484000	0.47621	CGT		0.403	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		70	124	0	0	0	1	0	70	124				
INSR	3643	broad.mit.edu	37	19	7267448	7267448	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:7267448G>A	ENST00000302850.5	-	2	702	c.560C>T	c.(559-561)cCg>cTg	p.P187L	INSR_ENST00000341500.5_Missense_Mutation_p.P187L	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	187	Cys-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.P187L(4)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CGCGGTACCCGGACAGATGTC	0.537																																						ENST00000341500.5																			4	Substitution - Missense(4)	p.P187L(4)	lung(4)	breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(559-561)cCg>cTg		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						153.0	114.0	127.0					19																	7267448		2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7267448G>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.560C>T	19.37:g.7267448G>A	ENSP00000303830:p.Pro187Leu					INSR_ENST00000302850.5_Missense_Mutation_p.P187L	p.P187L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			2	599	-			187			Cys-rich.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.560C>T	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205287	0.58234	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.97665	-4.48;-4.48	5.1	5.1	0.69264	Furin-like cysteine-rich domain (1);	0.000000	0.45867	D	0.000335	D	0.98623	0.9539	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	0.993;0.999;1.0	D;D;D	0.67231	0.922;0.934;0.95	D	0.99716	1.1008	10	0.87932	D	0	.	16.0231	0.80512	0.0:0.0:1.0:0.0	.	178;187;187	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	L	187	ENSP00000303830:P187L;ENSP00000342838:P187L	ENSP00000303830:P187L	P	-	2	0	INSR	7218448	1.000000	0.71417	0.901000	0.35422	0.254000	0.26022	7.558000	0.82253	2.363000	0.80096	0.563000	0.77884	CCG		0.537	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			4	150	0	0	0	1	0	4	150				
DDX60	55601	broad.mit.edu	37	4	169183842	169183842	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr4:169183842G>A	ENST00000393743.3	-	23	3427	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1046					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACCTGGGCCCGAGGCCAACTT	0.378																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(3136-3138)Cgg>Tgg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							83.0	89.0	87.0					4																	169183842		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169183842G>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3136C>T	4.37:g.169183842G>A	ENSP00000377344:p.Arg1046Trp					DDX60_ENST00000505393.1_5'UTR	p.R1046W	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	23	3427	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1046					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.3136C>T	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626588	0.28978	.	.	ENSG00000137628	ENST00000393743;ENST00000537338	T	0.18810	2.19	5.2	0.188	0.15114	.	1.006310	0.07995	N	0.987767	T	0.39733	0.1089	M	0.72118	2.19	0.09310	N	1	D	0.89917	1.0	P	0.61592	0.891	T	0.29027	-1.0025	10	0.49607	T	0.09	.	9.1515	0.36967	0.0:0.0798:0.1864:0.7338	.	1046	Q8IY21	DDX60_HUMAN	W	1046;138	ENSP00000377344:R1046W	ENSP00000377344:R1046W	R	-	1	2	DDX60	169420417	0.000000	0.05858	0.094000	0.20943	0.100000	0.18952	0.154000	0.16343	-0.198000	0.10333	-0.856000	0.03024	CGG		0.378	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		74	140	0	0	0	1	0	74	140				
HIVEP1	3096	broad.mit.edu	37	6	12124098	12124098	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr6:12124098C>A	ENST00000379388.2	+	4	4402	c.4070C>A	c.(4069-4071)cCt>cAt	p.P1357H	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1357					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTGAATGTTCCTGGATGTCAC	0.428																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(4069-4071)cCt>cAt		human immunodeficiency virus type I enhancer binding protein 1							78.0	74.0	75.0					6																	12124098		1914	4150	6064	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12124098C>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.4070C>A	6.37:g.12124098C>A	ENSP00000368698:p.Pro1357His						p.P1357H	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	4402	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1357					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.4070C>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.405808	0.83230	.	.	ENSG00000095951	ENST00000379388	T	0.27720	1.65	5.79	5.79	0.91817	.	0.000000	0.35936	N	0.002889	T	0.53867	0.1823	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.52931	-0.8509	9	.	.	.	-21.9567	20.04	0.97581	0.0:1.0:0.0:0.0	.	1357	P15822	ZEP1_HUMAN	H	1357	ENSP00000368698:P1357H	.	P	+	2	0	HIVEP1	12232084	1.000000	0.71417	0.449000	0.26957	0.979000	0.70002	7.471000	0.80985	2.733000	0.93635	0.655000	0.94253	CCT		0.428	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		4	133	1	0	0.00909568	1	0.00921536	4	133				
LRRC16A	55604	broad.mit.edu	37	6	25605088	25605088	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr6:25605088A>G	ENST00000329474.6	+	34	3969	c.3601A>G	c.(3601-3603)Agc>Ggc	p.S1201G		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1201					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CCCAGCTTTGAGCGGCGTAGA	0.493																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(3601-3603)Agc>Ggc		leucine rich repeat containing 16A							17.0	16.0	16.0					6																	25605088		876	1991	2867	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25605088A>G	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3601A>G	6.37:g.25605088A>G	ENSP00000331983:p.Ser1201Gly						p.S1201G	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			34	3969	+			1201					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.3601A>G	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	A	6.114	0.389209	0.11581	.	.	ENSG00000079691	ENST00000329474	T	0.15834	2.39	5.27	1.44	0.22558	.	0.443201	0.27206	N	0.020428	T	0.02688	0.0081	N	0.22421	0.69	0.23478	N	0.997599	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42699	-0.9436	10	0.39692	T	0.17	-1.6168	3.3614	0.07188	0.6357:0.0:0.197:0.1673	.	1201;1201	Q5VZK9;B2RTQ5	LR16A_HUMAN;.	G	1201	ENSP00000331983:S1201G	ENSP00000331983:S1201G	S	+	1	0	LRRC16A	25713067	0.824000	0.29247	0.041000	0.18516	0.126000	0.20510	1.138000	0.31491	-0.000000	0.14550	0.455000	0.32223	AGC		0.493	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		6	14	0	0	0	1	0	6	14				
SLC6A7	6534	broad.mit.edu	37	5	149583555	149583555	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:149583555T>G	ENST00000230671.2	+	10	1657	c.1286T>G	c.(1285-1287)cTc>cGc	p.L429R	SLC6A7_ENST00000524041.1_Missense_Mutation_p.L429R	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	429					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TTCTCAGGGCTCATCTGCGTG	0.582																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(1285-1287)cTc>cGc		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)						97.0	67.0	77.0					5																	149583555		2203	4300	6503	SO:0001583	missense	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149583555T>G	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.1286T>G	5.37:g.149583555T>G	ENSP00000230671:p.Leu429Arg					SLC6A7_ENST00000524041.1_Missense_Mutation_p.L429R	p.L429R	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1657	+		all_hematologic(541;0.224)	429					Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	c.1286T>G	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.389891	0.42410	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.76060	-0.99;-0.99	5.04	3.66	0.41972	.	0.389558	0.28908	N	0.013755	T	0.76969	0.4062	M	0.81112	2.525	0.33604	D	0.60267	P	0.38129	0.619	B	0.43916	0.436	T	0.81362	-0.0967	10	0.27082	T	0.32	.	11.2654	0.49108	0.0:0.0848:0.0:0.9152	.	429	Q99884	SC6A7_HUMAN	R	429	ENSP00000230671:L429R;ENSP00000428200:L429R	ENSP00000230671:L429R	L	+	2	0	SLC6A7	149563748	0.995000	0.38212	1.000000	0.80357	0.960000	0.62799	2.260000	0.43267	1.884000	0.54569	0.459000	0.35465	CTC		0.582	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		3	58	0	0	0	1	0	3	58				
SNHG14	104472715	broad.mit.edu	37	15	25333948	25333948	+	RNA	SNP	C	C	T	rs540191963	byFrequency	TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr15:25333948C>T	ENST00000546682.1	+	0	586				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000384430.1_RNA|SNORD116-20_ENST00000384529.1_lincRNA|SNORD116-20_ENST00000384507.1_lincRNA|SNHG14_ENST00000553108.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNORD116-23_ENST00000384645.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		AAATACTGTGCGTGGATCGAT	0.458													-|||	8	0.00159744	0.0008	0.0	5008	,	,		21241	0.005		0.001	False		,,,				2504	0.001					ENST00000546682.1																			0																				205.0	179.0	187.0					15																	25333948		876	1989	2865			0							g.chr15:25333948C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25333948C>T						SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA		NR_003361.1						0	586	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.458	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			76	313	0	0	0	1	0	76	313				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			75	99	0	0	0	1	0	75	99				
CAT	847	broad.mit.edu	37	11	34475370	34475370	+	Missense_Mutation	SNP	G	G	A	rs201484998		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr11:34475370G>A	ENST00000241052.4	+	6	697	c.608G>A	c.(607-609)cGg>cAg	p.R203Q		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	203					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TTCAGTGATCGGGGGATTCCA	0.343													G|||	1	0.000199681	0.0	0.0	5008	,	,		21009	0.0		0.001	False		,,,				2504	0.0					ENST00000241052.4																			0				breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26						c.(607-609)cGg>cAg		catalase	Fomepizole(DB01213)	G	GLN/ARG	0,4404		0,0,2202	119.0	111.0	114.0		608	5.8	0.6	11		114	1,8595	1.2+/-3.3	0,1,4297	yes	missense	CAT	NM_001752.3	43	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	203/528	34475370	1,12999	2202	4298	6500	SO:0001583	missense	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34475370G>A	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.608G>A	11.37:g.34475370G>A	ENSP00000241052:p.Arg203Gln						p.R203Q	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	6	697	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	203					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	c.608G>A	CCDS7891.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	23.6	4.430609	0.83776	0.0	1.16E-4	ENSG00000121691	ENST00000241052	D	0.92647	-3.08	5.84	5.84	0.93424	Catalase domain (1);Catalase, N-terminal (2);	0.060435	0.64402	D	0.000002	D	0.98012	0.9345	H	0.99379	4.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99019	1.0817	10	0.87932	D	0	-12.3757	15.2925	0.73875	0.0687:0.0:0.9313:0.0	.	203	P04040	CATA_HUMAN	Q	203	ENSP00000241052:R203Q	ENSP00000241052:R203Q	R	+	2	0	CAT	34431946	1.000000	0.71417	0.606000	0.28943	0.467000	0.32768	9.869000	0.99810	2.765000	0.95021	0.655000	0.94253	CGG		0.343	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		76	145	0	0	0	1	0	76	145				
CHRD	8646	broad.mit.edu	37	3	184104344	184104344	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr3:184104344T>G	ENST00000204604.1	+	16	2243	c.1997T>G	c.(1996-1998)gTg>gGg	p.V666G	CHRD_ENST00000450923.1_Missense_Mutation_p.V666G|CHRD_ENST00000545352.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.V626G|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	666					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCGAGGGGGTGCGGGCGCTG	0.726																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1996-1998)gTg>gGg		chordin							3.0	4.0	3.0					3																	184104344		1677	3445	5122	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184104344T>G	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1997T>G	3.37:g.184104344T>G	ENSP00000204604:p.Val666Gly					CHRD_ENST00000348986.3_Missense_Mutation_p.V626G|CHRD_ENST00000545352.1_Intron|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.V666G	p.V666G	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	2243	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		666					O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.1997T>G	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.625293	0.28889	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000342610	T;T;T	0.14266	2.75;2.53;2.52	4.58	-6.5	0.01884	.	1.936180	0.02212	N	0.063242	T	0.10252	0.0251	L	0.27053	0.805	0.09310	N	0.999999	B;B;B	0.26845	0.161;0.032;0.025	B;B;B	0.24394	0.053;0.021;0.024	T	0.15492	-1.0435	10	0.17832	T	0.49	0.1754	14.5119	0.67794	0.0:0.1738:0.0:0.8262	.	626;666;666	Q9H2X0-5;E7ESX1;Q9H2X0	.;.;CHRD_HUMAN	G	666;666;626;379	ENSP00000204604:V666G;ENSP00000408972:V666G;ENSP00000334036:V626G	ENSP00000204604:V666G	V	+	2	0	CHRD	185587038	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.285000	0.01153	-1.320000	0.02283	-0.479000	0.04858	GTG		0.726	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		8	13	0	0	0	1	0	8	13				
IRS1	3667	broad.mit.edu	37	2	227662549	227662549	+	Silent	SNP	T	T	G			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr2:227662549T>G	ENST00000305123.5	-	1	1926	c.906A>C	c.(904-906)cgA>cgC	p.R302R	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	302	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CAGTGCGTGATCGGCGGGTCA	0.682											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(904-906)cgA>cgC		insulin receptor substrate 1							44.0	54.0	51.0					2																	227662549		2194	4274	6468	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662549T>G		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.906A>C	2.37:g.227662549T>G			OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.R302R	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1926	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	302			Ser-rich.			Silent	SNP	ENST00000305123.5	37	c.906A>C	CCDS2463.1																																																																																				0.682	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		29	135	0	0	0	1	0	29	135				
KCNK2	3776	broad.mit.edu	37	1	215408391	215408391	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr1:215408391T>G	ENST00000444842.2	+	7	1334	c.1184T>G	c.(1183-1185)gTc>gGc	p.V395G	KCNK2_ENST00000391894.2_Missense_Mutation_p.V380G|KCNK2_ENST00000391895.2_Missense_Mutation_p.V391G	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	395	Essential for chloroform and halothane sensitivity. {ECO:0000250}.|Required for basal channel activity. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	GAGAGGGATGTCTTGCCTCCC	0.512																																						ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(1183-1185)gTc>gGc		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						124.0	121.0	122.0					1																	215408391		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215408391T>G	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1184T>G	1.37:g.215408391T>G	ENSP00000394033:p.Val395Gly					KCNK2_ENST00000391895.2_Missense_Mutation_p.V391G|KCNK2_ENST00000391894.2_Missense_Mutation_p.V380G	p.V395G	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	7	1334	+			395			Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.1184T>G	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	T	11.02	1.515905	0.27123	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.21191	2.02;2.03;2.02	5.72	4.6	0.57074	.	0.594677	0.18210	N	0.148235	T	0.11922	0.0290	N	0.08118	0	0.09310	N	0.999996	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.09377	0.004;0.004;0.0	T	0.20207	-1.0282	10	0.52906	T	0.07	.	11.3975	0.49851	0.0:0.0705:0.0:0.9295	.	380;395;391	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	G	391;380;395	ENSP00000375765:V391G;ENSP00000375764:V380G;ENSP00000394033:V395G	ENSP00000375764:V380G	V	+	2	0	KCNK2	213475014	0.627000	0.27129	0.784000	0.31847	0.987000	0.75469	1.456000	0.35201	1.008000	0.39264	0.459000	0.35465	GTC		0.512	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		27	155	0	0	0	1	0	27	155				
TRIO	7204	broad.mit.edu	37	5	14485191	14485191	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:14485191G>C	ENST00000344204.4	+	47	6695	c.6671G>C	c.(6670-6672)tGc>tCc	p.C2224S	TRIO_ENST00000537187.1_Missense_Mutation_p.C2224S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2224	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGTTGCCTTTGCCTGGAGGAA	0.408																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(6670-6672)tGc>tCc		trio Rho guanine nucleotide exchange factor							102.0	93.0	96.0					5																	14485191		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14485191G>C	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6671G>C	5.37:g.14485191G>C	ENSP00000339299:p.Cys2224Ser					TRIO_ENST00000537187.1_Missense_Mutation_p.C2224S	p.C2224S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			47	6695	+	Lung NSC(4;0.000742)		2224			PH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.6671G>C	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	9.805	1.181635	0.21787	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.09538	2.97;2.97	5.24	5.24	0.73138	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.108205	0.64402	D	0.000005	T	0.02649	0.0080	N	0.00182	-1.905	0.42186	D	0.991707	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.0	T	0.47497	-0.9113	10	0.10377	T	0.69	.	15.4647	0.75390	0.0:0.1485:0.8515:0.0	.	2224;2224	O75962-5;O75962	.;TRIO_HUMAN	S	2224;2224;1911	ENSP00000339299:C2224S;ENSP00000446348:C2224S	ENSP00000339299:C2224S	C	+	2	0	TRIO	14538191	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.611000	0.82962	2.441000	0.82636	0.650000	0.86243	TGC		0.408	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		5	228	0	0	0	1	0	5	228				
CABS1	85438	broad.mit.edu	37	4	71201164	71201164	+	Silent	SNP	C	C	G			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr4:71201164C>G	ENST00000273936.5	+	1	482	c.408C>G	c.(406-408)tcC>tcG	p.S136S		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	136					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAGATTTTTCCACTGACATAG	0.383																																						ENST00000273936.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(406-408)tcC>tcG		calcium-binding protein, spermatid-specific 1							56.0	55.0	55.0					4																	71201164		2203	4297	6500	SO:0001819	synonymous_variant	85438					flagellum	calcium ion binding	g.chr4:71201164C>G	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.408C>G	4.37:g.71201164C>G							p.S136S	NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN			1	467	+			136					B2RCB5|Q86UE0|Q96M17	Silent	SNP	ENST00000273936.5	37	c.408C>G	CCDS3539.1																																																																																				0.383	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		22	103	0	0	0	1	0	22	103				
MCCC1	56922	broad.mit.edu	37	3	182804549	182804549	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr3:182804549C>T	ENST00000265594.4	-	4	447	c.301G>A	c.(301-303)Gct>Act	p.A101T	MCCC1_ENST00000492597.1_5'UTR|MCCC1_ENST00000539926.1_Intron	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	101	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TGGGAGGGAGCGGGGCCGATG	0.453																																						ENST00000265594.4																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40						c.(301-303)Gct>Act		methylcrotonoyl-CoA carboxylase 1 (alpha)	Biotin(DB00121)						85.0	73.0	77.0					3																	182804549		2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182804549C>T	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.301G>A	3.37:g.182804549C>T	ENSP00000265594:p.Ala101Thr					MCCC1_ENST00000492597.1_5'UTR|MCCC1_ENST00000539926.1_Intron	p.A101T	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		4	447	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		101			Biotin carboxylation.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.301G>A	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298128	0.60086	.	.	ENSG00000078070	ENST00000265594;ENST00000476176;ENST00000448585	D;D	0.92348	-3.02;-3.02	5.5	5.5	0.81552	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.146696	0.64402	D	0.000010	D	0.96250	0.8777	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70716	0.97;0.957	D	0.95938	0.8944	10	0.51188	T	0.08	.	18.991	0.92793	0.0:1.0:0.0:0.0	.	54;101	E9PG35;Q96RQ3	.;MCCA_HUMAN	T	101;54;54	ENSP00000265594:A101T;ENSP00000420433:A54T	ENSP00000265594:A101T	A	-	1	0	MCCC1	184287243	0.997000	0.39634	0.388000	0.26195	0.128000	0.20619	3.463000	0.53050	2.601000	0.87937	0.563000	0.77884	GCT		0.453	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		26	33	0	0	0	1	0	26	33				
ZFP28	140612	broad.mit.edu	37	19	57066157	57066157	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:57066157C>A	ENST00000301318.3	+	8	2074	c.2003C>A	c.(2002-2004)aCa>aAa	p.T668K	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	668					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AAAACCCATACAGGAGAGAAA	0.463																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(2002-2004)aCa>aAa		ZFP28 zinc finger protein							86.0	88.0	87.0					19																	57066157		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57066157C>A		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2003C>A	19.37:g.57066157C>A	ENSP00000301318:p.Thr668Lys					AC007228.11_ENST00000596587.1_RNA	p.T668K	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	2074	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	668					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.2003C>A	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079021	0.36662	.	.	ENSG00000196867	ENST00000301318	T	0.24538	1.85	3.91	3.91	0.45181	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000227	T	0.30854	0.0778	N	0.10707	0.03	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.44742	-0.9308	10	0.87932	D	0	.	15.2106	0.73222	0.0:1.0:0.0:0.0	.	668	Q8NHY6	ZFP28_HUMAN	K	668	ENSP00000301318:T668K	ENSP00000301318:T668K	T	+	2	0	ZFP28	61757969	0.244000	0.23889	0.013000	0.15412	0.024000	0.10985	1.857000	0.39399	2.182000	0.69389	0.555000	0.69702	ACA		0.463	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		48	22	1	0	8.72198e-27	1	9.07558e-27	48	22				
TMEM72	643236	broad.mit.edu	37	10	45430279	45430279	+	Silent	SNP	C	C	G			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr10:45430279C>G	ENST00000544540.1	+	4	655	c.171C>G	c.(169-171)ctC>ctG	p.L57L	RP11-285G1.9_ENST00000425541.2_lincRNA|TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	175						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						ATGGGGCCCTCAAGGAGGGGC	0.602																																						ENST00000544540.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						c.(169-171)ctC>ctG		transmembrane protein 72							129.0	137.0	135.0					10																	45430279		1568	3582	5150	SO:0001819	synonymous_variant	643236					integral to membrane		g.chr10:45430279C>G	AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 127"""	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.171C>G	10.37:g.45430279C>G						TMEM72-AS1_ENST00000450287.2_RNA	p.L57L			A0PK05	TMM72_HUMAN			4	655	+			175					A1L181|Q5T740	Silent	SNP	ENST00000544540.1	37	c.171C>G																																																																																					0.602	TMEM72-201	KNOWN	basic	protein_coding	protein_coding		NM_001123376		148	222	0	0	0	1	0	148	222				
OSBPL10	114884	broad.mit.edu	37	3	31774883	31774883	+	Missense_Mutation	SNP	C	C	T	rs143778028		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr3:31774883C>T	ENST00000396556.2	-	6	1083	c.961G>A	c.(961-963)Ggg>Agg	p.G321R	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Missense_Mutation_p.G257R	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	321					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.G321W(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GACTTGGACCCGTGCCATCCC	0.413																																						ENST00000396556.2																			2	Substitution - Missense(2)	p.G321W(2)	lung(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(961-963)Ggg>Agg		oxysterol binding protein-like 10		C	ARG/GLY,ARG/GLY	0,4406		0,0,2203	156.0	149.0	152.0		769,961	4.8	1.0	3	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	OSBPL10	NM_001174060.1,NM_017784.4	125,125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	257/701,321/765	31774883	1,13005	2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31774883C>T	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.961G>A	3.37:g.31774883C>T	ENSP00000379804:p.Gly321Arg					OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Missense_Mutation_p.G257R	p.G321R	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	6	1083	-			321					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.961G>A	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862968	0.32884	0.0	1.16E-4	ENSG00000144645	ENST00000396556;ENST00000438237;ENST00000428241	T;T;T	0.44083	1.99;2.28;0.93	5.67	4.79	0.61399	.	0.349974	0.36374	N	0.002636	T	0.33000	0.0848	L	0.50333	1.59	0.36837	D	0.887184	B;B;B	0.32467	0.372;0.028;0.004	B;B;B	0.22386	0.039;0.009;0.004	T	0.27400	-1.0075	10	0.16896	T	0.51	-32.2675	14.0177	0.64533	0.0:0.9242:0.0:0.0758	.	257;321;89	B4E212;Q9BXB5;Q59ED9	.;OSB10_HUMAN;.	R	321;257;129	ENSP00000379804:G321R;ENSP00000406124:G257R;ENSP00000399200:G129R	ENSP00000379804:G321R	G	-	1	0	OSBPL10	31749887	0.990000	0.36364	0.996000	0.52242	0.980000	0.70556	2.664000	0.46783	2.686000	0.91538	0.561000	0.74099	GGG		0.413	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			6	365	0	0	0	1	0	6	365				
PTPRJ	5795	broad.mit.edu	37	11	48146663	48146663	+	Silent	SNP	C	C	A	rs142177730		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr11:48146663C>A	ENST00000418331.2	+	6	1370	c.1018C>A	c.(1018-1020)Cga>Aga	p.R340R	PTPRJ_ENST00000440289.2_Silent_p.R340R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	340	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCCTGGCACCCGATACAATGC	0.562																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1018-1020)Cga>Aga		protein tyrosine phosphatase, receptor type, J							87.0	92.0	90.0					11																	48146663		2201	4298	6499	SO:0001819	synonymous_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48146663C>A	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1018C>A	11.37:g.48146663C>A						PTPRJ_ENST00000440289.2_Silent_p.R340R	p.R340R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			6	1370	+			340			Fibronectin type-III 3.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	c.1018C>A	CCDS7945.1																																																																																				0.562	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			51	172	1	0	5.57489e-27	1	5.88037e-27	51	172				
KCNB2	9312	broad.mit.edu	37	8	73480200	73480200	+	Silent	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:73480200C>T	ENST00000523207.1	+	2	819	c.231C>T	c.(229-231)tgC>tgT	p.C77C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	77					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TGGAAGTGTGCGACGACTATA	0.522																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(229-231)tgC>tgT		potassium voltage-gated channel, Shab-related subfamily, member 2							82.0	80.0	81.0					8																	73480200		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480200C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.231C>T	8.37:g.73480200C>T							p.C77C	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	819	+	Breast(64;0.137)		77					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.231C>T	CCDS6209.1																																																																																				0.522	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		4	163	0	0	0	1	0	4	163				
ZNF737	100129842	broad.mit.edu	37	19	20728053	20728053	+	Missense_Mutation	SNP	C	C	T	rs538433962		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:20728053C>T	ENST00000427401.4	-	4	1050	c.956G>A	c.(955-957)gGc>gAc	p.G319D		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	319					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)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AAAGGCTTTGCCACATTCTTC	0.418													c|||	1	0.000199681	0.0	0.0	5008	,	,		21781	0.0		0.0	False		,,,				2504	0.001					ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(955-957)gGc>gAc		zinc finger protein 737							34.0	33.0	33.0					19																	20728053		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728053C>T	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.956G>A	19.37:g.20728053C>T	ENSP00000395733:p.Gly319Asp						p.G319D	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	1050	-			319					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.956G>A	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	14.21	2.467439	0.43839	.	.	ENSG00000237440	ENST00000427401	T	0.58358	0.34	0.801	-1.6	0.08426	.	.	.	.	.	T	0.38081	0.1027	N	0.25992	0.78	0.27923	N	0.938163	P	0.52316	0.952	P	0.46172	0.506	T	0.35076	-0.9803	9	0.56958	D	0.05	.	4.9223	0.13876	0.3382:0.6617:0.0:0.0	.	319	C9JHM3	.	D	319	ENSP00000395733:G319D	ENSP00000395733:G319D	G	-	2	0	ZNF737	20519893	0.003000	0.15002	0.233000	0.24025	0.235000	0.25334	-0.133000	0.10451	0.170000	0.19704	0.173000	0.16961	GGC		0.418	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		4	129	0	0	0	1	0	4	129				
CIC	23152	broad.mit.edu	37	19	42799051	42799051	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:42799051G>A	ENST00000575354.2	+	20	4575	c.4535G>A	c.(4534-4536)cGt>cAt	p.R1512H	CIC_ENST00000160740.3_Missense_Mutation_p.R1510H|CIC_ENST00000572681.2_Missense_Mutation_p.R2418H	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(7252-7254)cGt>cAt		capicua transcriptional repressor							51.0	51.0	51.0					19																	42799051		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799051G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4535G>A	19.37:g.42799051G>A	ENSP00000458663:p.Arg1512His					CIC_ENST00000160740.3_Missense_Mutation_p.R1510H|CIC_ENST00000575354.2_Missense_Mutation_p.R1512H	p.R2418H			Q96RK0	CIC_HUMAN			21	7321	+		Prostate(69;0.00682)	1512					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7253G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529376	0.85706	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	T	0.65037	0.2653	L	0.29908	0.895	0.47009	D	0.999284	D	0.76494	0.999	D	0.74674	0.984	T	0.68911	-0.5284	8	0.87932	D	0	-6.0224	15.0527	0.71888	0.0:0.0:1.0:0.0	.	1512	Q96RK0	CIC_HUMAN	H	1512	.	ENSP00000160740:R1512H	R	+	2	0	CIC	47490891	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	8.215000	0.89762	2.513000	0.84729	0.491000	0.48974	CGT		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			4	85	0	0	0	1	0	4	85				
ASUN	55726	broad.mit.edu	37	12	27087520	27087520	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr12:27087520G>T	ENST00000261191.7	-	3	805	c.269C>A	c.(268-270)tCt>tAt	p.S90Y	ASUN_ENST00000539625.1_Intron	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	90					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TTGAGTCCAAGAATTTAAAAC	0.313																																						ENST00000261191.7																			0											c.(268-270)tCt>tAt		asunder spermatogenesis regulator							93.0	104.0	100.0					12																	27087520		2202	4300	6502	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27087520G>T	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.269C>A	12.37:g.27087520G>T	ENSP00000261191:p.Ser90Tyr					ASUN_ENST00000539625.1_Intron	p.S90Y	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN			3	805	-			90					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.269C>A	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858459	0.71834	.	.	ENSG00000064102	ENST00000261191;ENST00000544548;ENST00000537336	T;T;T	0.50277	0.75;0.75;0.75	4.88	4.88	0.63580	.	0.165424	0.53938	D	0.000050	T	0.61726	0.2370	M	0.63843	1.955	0.80722	D	1	D	0.55385	0.971	P	0.55303	0.773	T	0.65865	-0.6064	10	0.87932	D	0	-13.2825	18.6166	0.91305	0.0:0.0:1.0:0.0	.	90	Q9NVM9	M89BB_HUMAN	Y	90	ENSP00000261191:S90Y;ENSP00000446183:S90Y;ENSP00000443066:S90Y	ENSP00000261191:S90Y	S	-	2	0	C12orf11	26978787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.036000	0.57304	2.707000	0.92482	0.563000	0.77884	TCT		0.313	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		56	187	1	0	5.10508e-28	1	5.4596e-28	56	187				
MOGAT3	346606	broad.mit.edu	37	7	100839216	100839216	+	3'UTR	SNP	C	C	T	rs559362771		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr7:100839216C>T	ENST00000223114.4	-	0	1203				MOGAT3_ENST00000440203.2_3'UTR|MOGAT3_ENST00000379423.3_Silent_p.A278A	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3						glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AGCGAAAGGCCGCGGCCAGGC	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15748	0.0		0.0	False		,,,				2504	0.0					ENST00000379423.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(832-834)gcG>gcA		monoacylglycerol O-acyltransferase 3							61.0	62.0	62.0					7																	100839216		2203	4300	6503	SO:0001624	3_prime_UTR_variant	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100839216C>T	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.*11G>A	7.37:g.100839216C>T						MOGAT3_ENST00000440203.2_3'UTR|MOGAT3_ENST00000223114.4_3'UTR	p.A278A			Q86VF5	MOGT3_HUMAN			6	894	-	Lung NSC(181;0.168)|all_lung(186;0.215)		0					Q496A6|Q496A7|Q496A8|Q9UDW7	Silent	SNP	ENST00000223114.4	37	c.834G>A	CCDS5714.1																																																																																				0.627	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		56	90	0	0	0	1	0	56	90				
ATP6V1H	51606	broad.mit.edu	37	8	54723771	54723771	+	Missense_Mutation	SNP	G	G	A	rs370139234		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:54723771G>A	ENST00000359530.2	-	7	795	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	ATP6V1H_ENST00000396774.2_Missense_Mutation_p.R178C|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.R138C|ATP6V1H_ENST00000355221.3_Intron	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	178					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CCGCTACCACGCAGTTTCTAT	0.343																																						ENST00000359530.2																			0				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18						c.(532-534)Cgt>Tgt		ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H		G	CYS/ARG,CYS/ARG,	1,4405	2.1+/-5.4	0,1,2202	87.0	93.0	91.0		532,532,	3.5	1.0	8		91	0,8600		0,0,4300	no	missense,missense,intron	ATP6V1H	NM_015941.2,NM_213620.1,NM_213619.1	180,180,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,	178/484,178/484,	54723771	1,13005	2203	4300	6503	SO:0001583	missense	51606				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:54723771G>A	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.532C>T	8.37:g.54723771G>A	ENSP00000352522:p.Arg178Cys					ATP6V1H_ENST00000396774.2_Missense_Mutation_p.R178C|ATP6V1H_ENST00000355221.3_Intron|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.R138C	p.R178C	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		7	795	-		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	178					B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Missense_Mutation	SNP	ENST00000359530.2	37	c.532C>T	CCDS6153.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046772	0.75846	2.27E-4	0.0	ENSG00000047249	ENST00000520188;ENST00000359530;ENST00000396774	.	.	.	5.38	3.49	0.39957	Armadillo-like helical (1);Armadillo-type fold (1);	0.047372	0.85682	D	0.000000	T	0.40743	0.1129	N	0.22421	0.69	0.58432	D	0.999998	P	0.50710	0.938	P	0.45138	0.471	T	0.42068	-0.9473	9	0.66056	D	0.02	-14.8067	10.9973	0.47585	0.071:0.0:0.7985:0.1305	.	178	Q9UI12	VATH_HUMAN	C	138;178;178	.	ENSP00000352522:R178C	R	-	1	0	ATP6V1H	54886324	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.606000	0.67641	2.525000	0.85131	0.655000	0.94253	CGT		0.343	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1	NM_015941		4	164	0	0	0	1	0	4	164				
SNX29	92017	broad.mit.edu	37	16	12662399	12662399	+	Silent	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:12662399G>A	ENST00000566228.1	+	21	2424	c.2355G>A	c.(2353-2355)cgG>cgA	p.R785R	CTD-3037G24.3_ENST00000564505.1_RNA|SNX29_ENST00000306030.3_Silent_p.R400R	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	785						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGAACAGCCGGCCCAAAGCAG	0.622																																						ENST00000566228.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(2353-2355)cgG>cgA		sorting nexin 29							37.0	46.0	43.0					16																	12662399		1987	4178	6165	SO:0001819	synonymous_variant	92017				cell communication		phosphatidylinositol binding	g.chr16:12662399G>A	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.2355G>A	16.37:g.12662399G>A						CTD-3037G24.3_ENST00000564505.1_RNA|SNX29_ENST00000306030.3_Silent_p.R400R	p.R785R	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			21	2424	+			400					B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	c.2355G>A	CCDS10553.2																																																																																				0.622	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			4	87	0	0	0	1	0	4	87				
IGSF6	10261	broad.mit.edu	37	16	21658503	21658503	+	Silent	SNP	C	C	T	rs576841517		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:21658503C>T	ENST00000268389.4	-	2	439	c.378G>A	c.(376-378)ccG>ccA	p.P126P	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	126	Ig-like C2-type.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		CTCTCGCTTCCGGCACACTGG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		23729	0.0		0.0	False		,,,				2504	0.001					ENST00000268389.4																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(376-378)ccG>ccA		immunoglobulin superfamily, member 6							115.0	106.0	109.0					16																	21658503		2199	4300	6499	SO:0001819	synonymous_variant	10261				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr16:21658503C>T	AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"""Immunoglobulin superfamily / V-set domain containing"""	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.378G>A	16.37:g.21658503C>T						METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	p.P126P	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN		GBM - Glioblastoma multiforme(48;0.066)	2	439	-			126			Ig-like C2-type.		Q8WWD8	Silent	SNP	ENST00000268389.4	37	c.378G>A	CCDS10599.1																																																																																				0.488	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1			5	243	0	0	0	1	0	5	243				
CADPS2	93664	broad.mit.edu	37	7	122261562	122261562	+	Silent	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr7:122261562G>A	ENST00000449022.2	-	5	1096	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S	CADPS2_ENST00000313070.7_Silent_p.S359S|CADPS2_ENST00000412584.2_Silent_p.S359S|CADPS2_ENST00000334010.7_Silent_p.S359S	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	359					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GTACCACGTCGGACTTTGACA	0.393																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(1075-1077)tcC>tcT		Ca++-dependent secretion activator 2							121.0	117.0	118.0					7																	122261562		1883	4119	6002	SO:0001819	synonymous_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122261562G>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1077C>T	7.37:g.122261562G>A						CADPS2_ENST00000313070.7_Silent_p.S359S|CADPS2_ENST00000449022.2_Silent_p.S359S|CADPS2_ENST00000412584.2_Silent_p.S359S	p.S359S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			5	1498	-			359					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Silent	SNP	ENST00000449022.2	37	c.1077C>T	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	G	8.105	0.777490	0.16120	.	.	ENSG00000081803	ENST00000397721	.	.	.	5.8	-11.6	0.00059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.926	5.4005	0.16293	0.5314:0.2359:0.0743:0.1584	.	.	.	.	X	8	.	.	R	-	1	2	CADPS2	122048798	0.000000	0.05858	0.052000	0.19188	0.985000	0.73830	-4.244000	0.00267	-3.376000	0.00176	-0.444000	0.05651	CGA		0.393	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		5	232	0	0	0	1	0	5	232				
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403								p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507																																						ENST00000379485.1																			7	Substitution - Missense(7)	p.T403K(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)	NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1207-1209)aCa>aAa		kelch repeat and BTB (POZ) domain containing 6							112.0	104.0	107.0					13																	41705440		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705440G>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys					KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	p.T403K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1442	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	403					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1208C>A	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA		0.507	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		5	252	1	0	0.000602214	1	0.000618273	5	252				
CYP11A1	1583	broad.mit.edu	37	15	74637578	74637578	+	Silent	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr15:74637578C>T	ENST00000268053.6	-	3	586	c.432G>A	c.(430-432)tcG>tcA	p.S144S	CYP11A1_ENST00000358632.4_5'UTR|CYP11A1_ENST00000419019.2_5'UTR|CYP11A1_ENST00000541301.1_Intron	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	144					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	TCCAGGCTGCCGACTTCCTGA	0.582																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000268053.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(430-432)tcG>tcA		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						52.0	48.0	49.0					15																	74637578		2197	4296	6493	SO:0001819	synonymous_variant	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74637578C>T	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.432G>A	15.37:g.74637578C>T						CYP11A1_ENST00000541301.1_Intron|CYP11A1_ENST00000358632.4_5'UTR|CYP11A1_ENST00000419019.2_5'UTR	p.S144S	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN			3	586	-			144					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Silent	SNP	ENST00000268053.6	37	c.432G>A	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	C	9.571	1.121087	0.20877	.	.	ENSG00000140459	ENST00000416978	D	0.86097	-2.07	4.37	-8.27	0.01017	.	.	.	.	.	T	0.79604	0.4474	.	.	.	0.27522	N	0.95136	.	.	.	.	.	.	T	0.74878	-0.3514	6	0.87932	D	0	-5.8827	6.6051	0.22721	0.1017:0.5224:0.0953:0.2806	.	.	.	.	Q	160	ENSP00000388018:R160Q	ENSP00000388018:R160Q	R	-	2	0	CYP11A1	72424631	0.000000	0.05858	0.001000	0.08648	0.093000	0.18481	-1.963000	0.01513	-1.393000	0.02079	-2.192000	0.00311	CGG		0.582	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			25	43	0	0	0	1	0	25	43				
SULF1	23213	broad.mit.edu	37	8	70541854	70541854	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:70541854C>T	ENST00000260128.4	+	19	2941	c.2224C>T	c.(2224-2226)Cct>Tct	p.P742S	SULF1_ENST00000458141.2_Missense_Mutation_p.P742S|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.P742S|SULF1_ENST00000419716.3_Missense_Mutation_p.P742S	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	742					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTGCAGCCTGCCTGGCCTCAC	0.537																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2224-2226)Cct>Tct		sulfatase 1							128.0	111.0	117.0					8																	70541854		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70541854C>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2224C>T	8.37:g.70541854C>T	ENSP00000260128:p.Pro742Ser					SULF1_ENST00000458141.2_Missense_Mutation_p.P742S|SULF1_ENST00000402687.4_Missense_Mutation_p.P742S|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.P742S	p.P742S	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		19	2941	+	Breast(64;0.0654)		742					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.2224C>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663736	0.88251	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	4.75	4.75	0.60458	Alkaline-phosphatase-like, core domain (1);	0.054735	0.85682	D	0.000000	T	0.30417	0.0764	M	0.65975	2.015	0.80722	D	1	B	0.25563	0.129	B	0.18263	0.021	T	0.09122	-1.0689	10	0.39692	T	0.17	.	17.9404	0.89025	0.0:1.0:0.0:0.0	.	742	Q8IWU6	SULF1_HUMAN	S	742	ENSP00000403040:P742S;ENSP00000260128:P742S;ENSP00000385704:P742S;ENSP00000390315:P742S	ENSP00000260128:P742S	P	+	1	0	SULF1	70704408	1.000000	0.71417	0.906000	0.35671	0.971000	0.66376	7.622000	0.83099	2.440000	0.82611	0.655000	0.94253	CCT		0.537	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		5	247	0	0	0	1	0	5	247				
COG4	25839	broad.mit.edu	37	16	70546310	70546310	+	Silent	SNP	T	T	C			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:70546310T>C	ENST00000323786.5	-	5	591	c.570A>G	c.(568-570)aaA>aaG	p.K190K	COG4_ENST00000393612.4_Silent_p.K186K|COG4_ENST00000564653.1_Intron	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	186					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CCTGCAGCAATTTCAGGTTGG	0.478																																						ENST00000323786.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.(568-570)aaA>aaG		component of oligomeric golgi complex 4							76.0	64.0	68.0					16																	70546310		2198	4300	6498	SO:0001819	synonymous_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70546310T>C	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.570A>G	16.37:g.70546310T>C						COG4_ENST00000564653.1_Intron|COG4_ENST00000393612.4_Silent_p.K186K	p.K190K	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN			5	591	-		Ovarian(137;0.0694)	186					B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Silent	SNP	ENST00000323786.5	37	c.570A>G	CCDS10892.2																																																																																				0.478	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			18	36	0	0	0	1	0	18	36				
EPX	8288	broad.mit.edu	37	17	56270829	56270829	+	Missense_Mutation	SNP	G	G	A	rs200333656		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr17:56270829G>A	ENST00000225371.5	+	3	378	c.268G>A	c.(268-270)Gca>Aca	p.A90T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	90					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	TGTTCGGGCCGCAGATTATAT	0.572																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(268-270)Gca>Aca		eosinophil peroxidase							84.0	77.0	79.0					17																	56270829		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56270829G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.268G>A	17.37:g.56270829G>A	ENSP00000225371:p.Ala90Thr						p.A90T	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			3	378	+			90					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.268G>A	CCDS11602.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.80	3.478574	0.63849	.	.	ENSG00000121053	ENST00000225371	T	0.72942	-0.7	4.47	4.47	0.54385	.	0.120751	0.56097	D	0.000036	D	0.84781	0.5548	M	0.85197	2.74	0.58432	D	0.999991	D	0.89917	1.0	D	0.74023	0.982	D	0.87765	0.2601	10	0.87932	D	0	-9.6087	14.9829	0.71324	0.0:0.0:1.0:0.0	.	90	P11678	PERE_HUMAN	T	90	ENSP00000225371:A90T	ENSP00000225371:A90T	A	+	1	0	EPX	53625828	0.899000	0.30636	0.855000	0.33649	0.452000	0.32318	2.640000	0.46579	2.186000	0.69663	0.549000	0.68633	GCA		0.572	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		56	137	0	0	0	1	0	56	137				
CACUL1	143384	broad.mit.edu	37	10	120450872	120450872	+	Silent	SNP	T	T	C			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr10:120450872T>C	ENST00000369151.3	-	7	1413	c.930A>G	c.(928-930)ccA>ccG	p.P310P	CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	310					G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)										GGAGAATGTTTGGAATAAATT	0.363																																						ENST00000369151.3																			0											c.(928-930)ccA>ccG		CDK2-associated, cullin domain 1							138.0	141.0	140.0					10																	120450872		1808	4075	5883	SO:0001819	synonymous_variant	143384							g.chr10:120450872T>C	AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"""Cdk-Associated Cullin1"""		"""chromosome 10 open reading frame 46"""	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.930A>G	10.37:g.120450872T>C						CACUL1_ENST00000544392.1_5'UTR	p.P310P	NM_153810.4	NP_722517.3					7	1413	-								Q5XPL7|Q8IY11|Q8N7S4	Silent	SNP	ENST00000369151.3	37	c.930A>G	CCDS41570.1																																																																																				0.363	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050612.2	NM_153810		114	198	0	0	0	1	0	114	198				
MPG	4350	broad.mit.edu	37	16	135641	135641	+	Silent	SNP	G	G	A	rs140510538		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:135641G>A	ENST00000219431.4	+	5	993	c.762G>A	c.(760-762)ccG>ccA	p.P254P	NPRL3_ENST00000405960.3_5'Flank|MPG_ENST00000397817.1_Silent_p.P237P	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	254					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CCAGTGAGCCGGCTGTAGTGG	0.667								Base excision repair (BER), DNA glycosylases																														ENST00000219431.4																			0				endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(760-762)ccG>ccA	Base excision repair (BER), DNA glycosylases	N-methylpurine-DNA glycosylase		G	,,	0,4404		0,0,2202	19.0	24.0	22.0		747,711,762	-10.8	0.0	16	dbSNP_134	22	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	MPG	NM_001015052.1,NM_001015054.1,NM_002434.2	,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,	249/294,237/282,254/299	135641	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	4350				depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding	g.chr16:135641G>A		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.762G>A	16.37:g.135641G>A						MPG_ENST00000397817.1_Silent_p.P237P	p.P254P	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN			5	993	+		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	254					G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Silent	SNP	ENST00000219431.4	37	c.762G>A	CCDS32346.1																																																																																				0.667	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			10	29	0	0	0	1	0	10	29				
KCNK2	3776	broad.mit.edu	37	1	215408420	215408420	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr1:215408420A>T	ENST00000444842.2	+	7	1363	c.1213A>T	c.(1213-1215)Atc>Ttc	p.I405F	KCNK2_ENST00000391894.2_Missense_Mutation_p.I390F|KCNK2_ENST00000391895.2_Missense_Mutation_p.I401F	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	405	Essential for chloroform and halothane sensitivity. {ECO:0000250}.|Required for basal channel activity. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	GACTGAGAGTATCTATCTGAA	0.473																																						ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(1213-1215)Atc>Ttc		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						140.0	138.0	139.0					1																	215408420		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215408420A>T	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1213A>T	1.37:g.215408420A>T	ENSP00000394033:p.Ile405Phe					KCNK2_ENST00000391895.2_Missense_Mutation_p.I401F|KCNK2_ENST00000391894.2_Missense_Mutation_p.I390F	p.I405F	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	7	1363	+			405			Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.1213A>T	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.798772	0.50208	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.23552	1.91;1.92;1.9	5.72	5.72	0.89469	.	0.391554	0.28736	N	0.014313	T	0.18593	0.0446	N	0.14661	0.345	0.49687	D	0.999811	B;B;B	0.28636	0.218;0.139;0.218	B;B;B	0.28011	0.085;0.039;0.085	T	0.05354	-1.0890	10	0.52906	T	0.07	.	16.002	0.80301	1.0:0.0:0.0:0.0	.	390;405;401	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	F	401;390;405	ENSP00000375765:I401F;ENSP00000375764:I390F;ENSP00000394033:I405F	ENSP00000375764:I390F	I	+	1	0	KCNK2	213475043	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.187000	0.58344	2.186000	0.69663	0.459000	0.35465	ATC		0.473	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		32	184	0	0	0	1	0	32	184				
FOXR2	139628	broad.mit.edu	37	X	55651077	55651077	+	Silent	SNP	T	T	C			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chrX:55651077T>C	ENST00000339140.3	+	1	1245	c.933T>C	c.(931-933)ctT>ctC	p.L311L		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	311					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TCTTTGATCTTTGAAATGCCA	0.478																																						ENST00000339140.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(931-933)ctT>ctC		forkhead box R2							120.0	91.0	101.0					X																	55651077		2203	4300	6503	SO:0001819	synonymous_variant	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55651077T>C	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.933T>C	X.37:g.55651077T>C							p.L311L	NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN			1	1245	+			311						Silent	SNP	ENST00000339140.3	37	c.933T>C	CCDS35308.1																																																																																				0.478	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		9	37	0	0	0	1	0	9	37				
GSG1L	146395	broad.mit.edu	37	16	27856321	27856321	+	Silent	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:27856321G>A	ENST00000447459.2	-	4	696	c.612C>T	c.(610-612)ctC>ctT	p.L204L	GSG1L_ENST00000569166.1_Silent_p.L49L|GSG1L_ENST00000395724.3_Silent_p.L153L|GSG1L_ENST00000380898.2_Silent_p.L49L|GSG1L_ENST00000380897.3_Silent_p.L49L	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	204					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CCTCAGGACCGAGGCTCACGG	0.602																																						ENST00000380898.2																			0				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						c.(145-147)ctC>ctT		GSG1-like							97.0	65.0	76.0					16																	27856321		2197	4300	6497	SO:0001819	synonymous_variant	146395					integral to membrane		g.chr16:27856321G>A	AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.612C>T	16.37:g.27856321G>A						GSG1L_ENST00000395724.3_Silent_p.L153L|GSG1L_ENST00000569166.1_Silent_p.L49L|GSG1L_ENST00000447459.2_Silent_p.L204L|GSG1L_ENST00000380897.3_Silent_p.L49L	p.L49L			Q6UXU4	GSG1L_HUMAN			4	696	-			204					Q7Z6F8|Q8TB81	Silent	SNP	ENST00000447459.2	37	c.147C>T	CCDS45450.1																																																																																				0.602	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675		13	35	0	0	0	1	0	13	35				
IL27RA	9466	broad.mit.edu	37	19	14157003	14157003	+	Nonsense_Mutation	SNP	G	G	A	rs531955454		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:14157003G>A	ENST00000263379.2	+	7	931	c.806G>A	c.(805-807)tGg>tAg	p.W269*		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	269					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TACAAAGTCTGGTTCTGGGTT	0.552																																					Colon(164;1849 1896 4443 37792 47834)	ENST00000263379.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(805-807)tGg>tAg		interleukin 27 receptor, alpha							149.0	150.0	150.0					19																	14157003		2203	4300	6503	SO:0001587	stop_gained	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14157003G>A	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.806G>A	19.37:g.14157003G>A	ENSP00000263379:p.Trp269*						p.W269*	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN			7	931	+			269					A0N0L1|O60624	Nonsense_Mutation	SNP	ENST00000263379.2	37	c.806G>A	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	G	36	5.834274	0.97003	.	.	ENSG00000104998	ENST00000263379	.	.	.	4.42	-1.49	0.08718	.	0.814201	0.10425	N	0.676133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-10.1435	1.2302	0.01942	0.1358:0.168:0.3109:0.3852	.	.	.	.	X	269	.	ENSP00000263379:W269X	W	+	2	0	IL27RA	14018003	0.005000	0.15991	0.000000	0.03702	0.031000	0.12232	0.110000	0.15437	0.014000	0.14944	0.557000	0.71058	TGG		0.552	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		132	232	0	0	0	1	0	132	232				
PRKDC	5591	broad.mit.edu	37	8	48715931	48715931	+	Silent	SNP	G	G	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:48715931G>A	ENST00000314191.2	-	71	9911	c.9855C>T	c.(9853-9855)tgC>tgT	p.C3285C	Y_RNA_ENST00000384719.1_RNA|PRKDC_ENST00000338368.3_Silent_p.C3285C|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3286	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ACCGGCTCCGGCAGTGGCTCA	0.512								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(9853-9855)tgC>tgT	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							67.0	72.0	70.0					8																	48715931		2001	4174	6175	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48715931G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.9855C>T	8.37:g.48715931G>A						PRKDC_ENST00000338368.3_Silent_p.C3285C|PRKDC_ENST00000523565.1_5'UTR	p.C3285C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			71	9911	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3286			FAT.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.9855C>T																																																																																					0.512	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		5	249	0	0	0	1	0	5	249				
SYNE1	23345	broad.mit.edu	37	6	152772223	152772223	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr6:152772223T>A	ENST00000367255.5	-	26	3746	c.3145A>T	c.(3145-3147)Atg>Ttg	p.M1049L	SYNE1_ENST00000423061.1_Missense_Mutation_p.M1056L|SYNE1_ENST00000413186.2_Missense_Mutation_p.M1049L|SYNE1_ENST00000367248.3_Missense_Mutation_p.M1039L|SYNE1_ENST00000341594.5_Missense_Mutation_p.M1115L|SYNE1_ENST00000448038.1_Missense_Mutation_p.M1056L|SYNE1_ENST00000367253.4_Missense_Mutation_p.M1049L|SYNE1_ENST00000265368.4_Missense_Mutation_p.M1049L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1049					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCTGGGGCATCAGCTTGGTC	0.453										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(3145-3147)Atg>Ttg		spectrin repeat containing, nuclear envelope 1							230.0	204.0	213.0					6																	152772223		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152772223T>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3145A>T	6.37:g.152772223T>A	ENSP00000356224:p.Met1049Leu	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.M1056L|SYNE1_ENST00000341594.5_Missense_Mutation_p.M1115L|SYNE1_ENST00000413186.2_Missense_Mutation_p.M1049L|SYNE1_ENST00000423061.1_Missense_Mutation_p.M1056L|SYNE1_ENST00000367253.4_Missense_Mutation_p.M1049L|SYNE1_ENST00000367248.3_Missense_Mutation_p.M1039L|SYNE1_ENST00000265368.4_Missense_Mutation_p.M1049L	p.M1049L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	26	3746	-		Ovarian(120;0.0955)	1049					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3145A>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	5.010	0.187487	0.09547	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.85088	1.09;1.09;1.0;1.09;1.18;-1.8;-1.94;-1.94	5.87	3.92	0.45320	.	0.435314	0.19590	N	0.110644	T	0.27205	0.0667	N	0.00321	-1.65	0.80722	D	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.50065	-0.8871	10	0.08179	T	0.78	.	1.9414	0.03347	0.2294:0.4154:0.2083:0.1469	.	1032;1049;1039;1049;1049;1056	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	L	1049;1056;1049;1056;1115;1049;1039;1049	ENSP00000356224:M1049L;ENSP00000396024:M1056L;ENSP00000265368:M1049L;ENSP00000390975:M1056L;ENSP00000341887:M1115L;ENSP00000356222:M1049L;ENSP00000356217:M1039L;ENSP00000414510:M1049L	ENSP00000265368:M1049L	M	-	1	0	SYNE1	152813916	0.876000	0.30132	0.946000	0.38457	0.941000	0.58515	0.039000	0.13884	1.614000	0.50241	-0.177000	0.13119	ATG		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		74	181	0	0	0	1	0	74	181				
AGAP1	116987	broad.mit.edu	37	2	236708060	236708060	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr2:236708060C>T	ENST00000304032.8	+	8	1431	c.851C>T	c.(850-852)tCg>tTg	p.S284L	AGAP1_ENST00000428334.2_Missense_Mutation_p.S123L|AGAP1_ENST00000409457.1_Missense_Mutation_p.S284L|AGAP1_ENST00000409538.1_Missense_Mutation_p.S549L|AGAP1_ENST00000336665.5_Missense_Mutation_p.S284L	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	284					protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCCGTTCCATCGACTCCCAGC	0.517																																						ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1645-1647)tCg>tTg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							84.0	77.0	79.0					2																	236708060		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236708060C>T	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.851C>T	2.37:g.236708060C>T	ENSP00000307634:p.Ser284Leu					AGAP1_ENST00000428334.2_Missense_Mutation_p.S123L|AGAP1_ENST00000336665.5_Missense_Mutation_p.S284L|AGAP1_ENST00000304032.7_Missense_Mutation_p.S284L|AGAP1_ENST00000409457.1_Missense_Mutation_p.S284L	p.S549L			Q9UPQ3	AGAP1_HUMAN			8	2142	+			284			PH.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.1646C>T	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833118	0.71258	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.50922	0.1644	L	0.55743	1.74	0.80722	D	1	D;B	0.76494	0.999;0.349	D;B	0.65987	0.94;0.034	T	0.46775	-0.9167	10	0.46703	T	0.11	.	18.7434	0.91782	0.0:1.0:0.0:0.0	.	284;284	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	L	284;284;284;549;123	ENSP00000387174:S284L;ENSP00000307634:S284L;ENSP00000338378:S284L;ENSP00000386897:S549L;ENSP00000411824:S123L	ENSP00000307634:S284L	S	+	2	0	AGAP1	236372799	1.000000	0.71417	0.333000	0.25482	0.802000	0.45316	7.697000	0.84279	2.430000	0.82344	0.655000	0.94253	TCG		0.517	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		4	162	0	0	0	1	0	4	162				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		5	217	0	0	0	1	0	5	217				
RP11-44F14.1	0	broad.mit.edu	37	16	53404691	53404691	+	RNA	SNP	C	C	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:53404691C>T	ENST00000565421.1	-	0	350																											AAATAAGCCTCCATTTCAGAG	0.358																																						ENST00000565421.1																			0																																																			0							g.chr16:53404691C>T																													16.37:g.53404691C>T														0	350	-									RNA	SNP	ENST00000565421.1	37																																																																																						0.358	RP11-44F14.1-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000422364.2			14	36	0	0	0	1	0	14	36				
ZNF292	23036	broad.mit.edu	37	6	87966803	87966806	+	Frame_Shift_Del	DEL	GTTT	GTTT	-			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr6:87966803_87966806delGTTT	ENST00000369577.3	+	8	3499_3502	c.3456_3459delGTTT	c.(3454-3459)aagtttfs	p.KF1152fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.KF1147fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1152						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATAATGGAAAGTTTGTTTATTTTT	0.402																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(3454-3459)aafs		zinc finger protein 292																																				SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87966803_87966806delGTTT	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3456_3459delGTTT	6.37:g.87966807_87966810delGTTT	ENSP00000358590:p.Lys1152fs					ZNF292_ENST00000339907.4_Frame_Shift_Del_p.KF1147fs	p.KF1152fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	3499_3502	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1152					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.3456_3459delGTTT	CCDS47457.1																																																																																				0.402	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		30	88						30	88	---	---	---	---
LINC01076	106144602	broad.mit.edu	37	13	25780715	25780715	+	lincRNA	DEL	T	T	-	rs199566495		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr13:25780715delT	ENST00000435725.2	-	0	195									long intergenic non-protein coding RNA 1076																		ttaataaaaattttaaaaaaa	0.378																																						ENST00000435725.2																			0																																																			0							g.chr13:25780715delT	BG190398		13q12.13	2013-09-05			ENSG00000225105	ENSG00000225105		"""Long non-coding RNAs"""	49119	non-coding RNA	RNA, long non-coding							Standard			Approved				OTTHUMG00000016599		13.37:g.25780715delT														0	195	-									RNA	DEL	ENST00000435725.2	37																																																																																						0.378	LINC01076-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000044218.2			3	5						3	5	---	---	---	---
ARGLU1	55082	broad.mit.edu	37	13	107219953	107219955	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr13:107219953_107219955delCTC	ENST00000400198.3	-	1	557_559	c.313_315delGAG	c.(313-315)gagdel	p.E105del		NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	105	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CCGCTTTCTTCTCCTCCTCCTCT	0.714																																						ENST00000400198.3																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(313-315)del		arginine and glutamate rich 1																																				SO:0001651	inframe_deletion	55082							g.chr13:107219953_107219955delCTC	BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.313_315delGAG	13.37:g.107219962_107219964delCTC	ENSP00000383059:p.Glu105del						p.E105del	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN			1	557_559	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		105			Glu-rich.		B4E0Y3|Q5T257|Q6IQ34	In_Frame_Del	DEL	ENST00000400198.3	37	c.313_315delGAG	CCDS41906.1																																																																																				0.714	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045727.1	NM_018011		51	125						51	125	---	---	---	---
UBR7	55148	broad.mit.edu	37	14	93693343	93693345	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr14:93693343_93693345delAGA	ENST00000013070.6	+	11	1476_1478	c.1240_1242delAGA	c.(1240-1242)agadel	p.R416del	UBR7_ENST00000416753.1_In_Frame_Del_p.R340del	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	416							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						GTCAAAAAAGAGAAGAAGAGTGG	0.374																																						ENST00000013070.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						c.(1240-1242)del		ubiquitin protein ligase E3 component n-recognin 7 (putative)				0,4264		0,0,2132						4.7	1.0			101	1,8253		0,1,4126	no	coding	UBR7	NM_175748.3		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001651	inframe_deletion	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93693343_93693345delAGA	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.1240_1242delAGA	14.37:g.93693349_93693351delAGA	ENSP00000013070:p.Arg416del					UBR7_ENST00000416753.1_In_Frame_Del_p.R340del	p.R416del	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN			11	1476_1478	+			416					Q86U21|Q86UA9|Q96BY0|Q9NVV6	In_Frame_Del	DEL	ENST00000013070.6	37	c.1240_1242delAGA	CCDS9909.1																																																																																				0.374	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		38	82						38	82	---	---	---	---
UBE2Q2P2	100134869	broad.mit.edu	37	15	83040943	83040944	+	RNA	INS	-	-	T	rs369211335		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr15:83040943_83040944insT	ENST00000558477.1	+	0	233					NR_004847.2																						GAACAAAAATCTTTTTTTTTTT	0.312																																						ENST00000558477.1																			0																																																			0							g.chr15:83040943_83040944insT																													15.37:g.83040954_83040954dupT								NR_004847.2						0	233	+									RNA	INS	ENST00000558477.1	37																																																																																						0.312	UBE2Q2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000419279.1			4	3						4	3	---	---	---	---
LL22NC03-86D4.1	105373010	broad.mit.edu	37	22	34492089	34492090	+	lincRNA	INS	-	-	T			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr22:34492089_34492090insT	ENST00000412218.1	+	0	114																											ctgccttgctgtttTTTTTTGT	0.366																																						ENST00000412218.1																			0																																																			0							g.chr22:34492089_34492090insT																													22.37:g.34492098_34492098dupT														0	114	+									RNA	INS	ENST00000412218.1	37																																																																																						0.366	LL22NC03-86D4.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000320580.3			3	3						3	3	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42605990	42605992	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr22:42605990_42605992delCTG	ENST00000359486.3	-	1	5456_5458	c.5320_5322delCAG	c.(5320-5322)cagdel	p.Q1774del	TCF20_ENST00000335626.4_In_Frame_Del_p.Q1774del|TCF20_ENST00000404876.1_In_Frame_Del_p.Q75del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1774					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTGCTCCTTCTGCTGCTGCTGC	0.601																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(5320-5322)del		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42605990_42605992delCTG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5320_5322delCAG	22.37:g.42605999_42606001delCTG	ENSP00000352463:p.Gln1774del					TCF20_ENST00000335626.4_In_Frame_Del_p.Q1774del|TCF20_ENST00000404876.1_In_Frame_Del_p.Q75del	p.Q1774del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5456_5458	-			1774					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.5320_5322delCAG	CCDS14033.1																																																																																				0.601	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		7	254						7	254	---	---	---	---
