#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
CNOT2	4848	broad.mit.edu	37	12	70713109	70713109	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr12:70713109T>C	ENST00000418359.3	+	5	654	c.203T>C	c.(202-204)cTg>cCg	p.L68P	CNOT2_ENST00000229195.3_Missense_Mutation_p.L68P	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	68					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCAGGTCAGCTGTCTCAGTTT	0.333																																						ENST00000229195.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(202-204)cTg>cCg		CCR4-NOT transcription complex, subunit 2							117.0	118.0	117.0					12																	70713109		2203	4300	6503	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70713109T>C	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.203T>C	12.37:g.70713109T>C	ENSP00000412091:p.Leu68Pro					CNOT2_ENST00000418359.3_Missense_Mutation_p.L68P	p.L68P	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		4	782	+	Renal(347;0.236)		68					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.203T>C	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.493563	0.84962	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000551132;ENST00000552915;ENST00000552483;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000547867;ENST00000550194	T;T;T;T	0.54071	0.59;0.59;0.62;0.59	5.29	5.29	0.74685	.	0.070917	0.64402	D	0.000018	T	0.49712	0.1573	L	0.29908	0.895	0.80722	D	1	P	0.50943	0.94	P	0.48030	0.564	T	0.54931	-0.8219	10	0.66056	D	0.02	-3.1623	15.5172	0.75833	0.0:0.0:0.0:1.0	.	68	Q9NZN8	CNOT2_HUMAN	P	68;68;68;68;48;68;59;48;59;68;68;59;68	ENSP00000229195:L68P;ENSP00000412091:L68P;ENSP00000449659:L59P;ENSP00000449260:L68P	ENSP00000229195:L68P	L	+	2	0	CNOT2	68999376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.126000	0.65437	0.377000	0.23210	CTG		0.333	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			20	44	0	0	0	1	0	20	44				
TTN	7273	broad.mit.edu	37	2	179571236	179571236	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:179571236C>A	ENST00000591111.1	-	100	28638	c.28414G>T	c.(28414-28416)Gat>Tat	p.D9472Y	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D8545Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D9789Y|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13564					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTTTCATCCACCTGTAAG	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(29365-29367)Gat>Tat		titin							137.0	121.0	126.0					2																	179571236		1899	4122	6021	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179571236C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28414G>T	2.37:g.179571236C>A	ENSP00000465570:p.Asp9472Tyr					TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D9472Y|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D8545Y|TTN_ENST00000342175.6_Intron	p.D9789Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		102	29589	-			9472			Ig-like 79.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.29365G>T		.	.	.	.	.	.	.	.	.	.	C	17.19	3.327136	0.60743	.	.	ENSG00000155657	ENST00000342992	T	0.39592	1.07	5.92	5.92	0.95590	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52885	0.1762	L	0.29908	0.895	0.80722	D	1	D	0.64830	0.994	P	0.60173	0.87	T	0.53464	-0.8435	9	0.87932	D	0	.	20.3129	0.98645	0.0:1.0:0.0:0.0	.	9472	Q8WZ42	TITIN_HUMAN	Y	8545	ENSP00000343764:D8545Y	ENSP00000343764:D8545Y	D	-	1	0	TTN	179279481	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.800000	0.96347	0.650000	0.86243	GAT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	57	1	0	5.16669e-11	1	5.43164e-11	12	57				
TRIM24	8805	broad.mit.edu	37	7	138252324	138252324	+	Silent	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr7:138252324C>T	ENST00000343526.4	+	10	1844	c.1629C>T	c.(1627-1629)aaC>aaT	p.N543N	TRIM24_ENST00000415680.2_Silent_p.N509N|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	543					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						ATCCACCAAACCAGAACATAC	0.443																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(1627-1629)aaC>aaT		tripartite motif containing 24							128.0	114.0	119.0					7																	138252324		2203	4300	6503	SO:0001819	synonymous_variant	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138252324C>T	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1629C>T	7.37:g.138252324C>T						TRIM24_ENST00000415680.2_Silent_p.N509N|TRIM24_ENST00000497516.1_3'UTR	p.N543N			O15164	TIF1A_HUMAN			10	1844	+			543					A4D1R7|A4D1R8|O95854	Silent	SNP	ENST00000343526.4	37	c.1629C>T	CCDS5847.1																																																																																				0.443	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		28	113	0	0	0	1	0	28	113				
FAM26E	254228	broad.mit.edu	37	6	116836965	116836965	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr6:116836965A>C	ENST00000368599.3	+	2	794	c.743A>C	c.(742-744)aAc>aCc	p.N248T	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	248					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TTTTTTGAAAACAAGAGGCCA	0.468																																						ENST00000368599.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(742-744)aAc>aCc		family with sequence similarity 26, member E							121.0	113.0	116.0					6																	116836965		2203	4300	6503	SO:0001583	missense	254228					integral to membrane		g.chr6:116836965A>C	BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 188"""	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.743A>C	6.37:g.116836965A>C	ENSP00000357588:p.Asn248Thr					TRAPPC3L_ENST00000368602.3_Intron	p.N248T	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)	2	794	+		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)	248					B2RDJ9|B3KSR3	Missense_Mutation	SNP	ENST00000368599.3	37	c.743A>C	CCDS5108.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.376845	0.61735	.	.	ENSG00000178033	ENST00000368599	T	0.17854	2.25	6.03	6.03	0.97812	.	0.096038	0.64402	D	0.000001	T	0.24160	0.0585	M	0.80616	2.505	0.47407	D	0.999418	D	0.64830	0.994	P	0.58721	0.844	T	0.11542	-1.0583	10	0.19590	T	0.45	-7.6443	11.5902	0.50941	0.9292:0.0:0.0708:0.0	.	248	Q8N5C1	FA26E_HUMAN	T	248	ENSP00000357588:N248T	ENSP00000357588:N248T	N	+	2	0	FAM26E	116943658	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	5.737000	0.68606	2.302000	0.77476	0.533000	0.62120	AAC		0.468	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041956.1	NM_153711		42	20	0	0	0	1	0	42	20				
ZNF720	124411	broad.mit.edu	37	16	31766709	31766709	+	Intron	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:31766709G>A	ENST00000316491.9	+	4	560				ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000399681.3_Missense_Mutation_p.C366Y|ZNF720_ENST00000534369.1_Intron	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						CCCTACATATGTAAAGAATGT	0.353																																						ENST00000399681.3																			0				endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						c.(1096-1098)tGt>tAt		zinc finger protein 720																																				SO:0001627	intron_variant	124411				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:31766709G>A	AK128671	CCDS45473.1	16p11.2	2013-01-08				ENSG00000197302		"""Zinc fingers, C2H2-type"", ""-"""	26987	protein-coding gene	gene with protein product							Standard	NM_001130913		Approved		uc002ecq.3	Q7Z2F6		ENST00000316491.9:c.361+1488G>A	16.37:g.31766709G>A						ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000316491.9_Intron	p.C366Y			Q7Z2F6	ZN720_HUMAN			6	1576	+			0					Q6ZQX1	Missense_Mutation	SNP	ENST00000316491.9	37	c.1097G>A	CCDS45473.1	.	.	.	.	.	.	.	.	.	.	g	13.90	2.374302	0.42105	.	.	ENSG00000197302	ENST00000399681	D	0.85088	-1.94	0.965	0.965	0.19661	.	.	.	.	.	D	0.89781	0.6814	.	.	.	0.28630	N	0.907719	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80525	-0.1344	8	0.72032	D	0.01	.	7.7881	0.29103	0.0:0.0:1.0:0.0	.	366;366	F5GYB6;B7Z5S2	.;.	Y	366	ENSP00000440701:C366Y	ENSP00000440701:C366Y	C	+	2	0	ZNF720	31674210	1.000000	0.71417	0.022000	0.16811	0.017000	0.09413	6.761000	0.74945	0.847000	0.35167	0.561000	0.74099	TGT		0.353	ZNF720-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394883.3	NM_001004300		5	7	0	0	0	1	0	5	7				
GPR98	84059	broad.mit.edu	37	5	90136563	90136563	+	Missense_Mutation	SNP	C	C	T	rs376062087		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr5:90136563C>T	ENST00000405460.2	+	78	16876	c.16780C>T	c.(16780-16782)Cgc>Tgc	p.R5594C	GPR98_ENST00000425867.2_Missense_Mutation_p.R1255C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5594					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTTCCTAAACGCTTCCAGAT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		19325	0.0		0.0	False		,,,				2504	0.001					ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(16780-16782)Cgc>Tgc		G protein-coupled receptor 98		C	CYS/ARG	0,3746		0,0,1873	173.0	168.0	170.0		16780	5.3	1.0	5		170	1,8237		0,1,4118	no	missense	GPR98	NM_032119.3	180	0,1,5991	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	5594/6307	90136563	1,11983	1873	4119	5992	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90136563C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.16780C>T	5.37:g.90136563C>T	ENSP00000384582:p.Arg5594Cys					GPR98_ENST00000425867.2_Missense_Mutation_p.R1255C	p.R5594C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	78	16876	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5594					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.16780C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061234	0.76187	0.0	1.21E-4	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.27720	1.65;1.65	6.16	5.3	0.74995	.	0.044725	0.85682	N	0.000000	T	0.28300	0.0699	M	0.68952	2.095	0.80722	D	1	P;B;P	0.48089	0.846;0.111;0.905	B;B;B	0.34138	0.085;0.019;0.176	T	0.13202	-1.0518	9	.	.	.	.	12.4554	0.55702	0.0:0.8668:0.0:0.1332	.	1255;5594;1255	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	C	5594;5594;1255	ENSP00000384582:R5594C;ENSP00000392618:R1255C	.	R	+	1	0	GPR98	90172319	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.392000	0.52537	1.631000	0.50456	0.650000	0.86243	CGC		0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		4	148	0	0	0	1	0	4	148				
OR5H2	79310	broad.mit.edu	37	3	98002344	98002344	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:98002344T>G	ENST00000355273.2	+	1	613	c.613T>G	c.(613-615)Ttt>Gtt	p.F205V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TCTAATGGTTTTTATTTTGTC	0.313																																						ENST00000355273.2																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(613-615)Ttt>Gtt		olfactory receptor, family 5, subfamily H, member 2							79.0	82.0	81.0					3																	98002344		2203	4299	6502	SO:0001583	missense	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98002344T>G		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.613T>G	3.37:g.98002344T>G	ENSP00000347418:p.Phe205Val					RP11-325B23.2_ENST00000508616.1_lincRNA	p.F205V	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN			1	613	+			205					Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	c.613T>G	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.637311	0.47049	.	.	ENSG00000197938	ENST00000355273	T	0.00099	8.73	3.03	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40818	U	0.001013	T	0.00328	0.0010	L	0.58302	1.8	0.09310	N	1	D	0.63046	0.992	D	0.65773	0.938	T	0.51140	-0.8743	10	0.49607	T	0.09	.	9.4315	0.38612	0.0:0.0:0.0:1.0	.	205	Q8NGV7	OR5H2_HUMAN	V	205	ENSP00000347418:F205V	ENSP00000347418:F205V	F	+	1	0	OR5H2	99485034	0.007000	0.16637	0.428000	0.26697	0.157000	0.22087	0.667000	0.25112	1.387000	0.46486	0.338000	0.21704	TTT		0.313	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			14	51	0	0	0	1	0	14	51				
TTN	7273	broad.mit.edu	37	2	179611639	179611639	+	Intron	SNP	C	C	T	rs150492317		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:179611639C>T	ENST00000591111.1	-	46	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.R5163H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R5163H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAATCGGAACGCCATATTTC	0.388																																						ENST00000360870.5																			1	Substitution - Missense(1)	p.R5163H(1)	large_intestine(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(15487-15489)cGt>cAt		titin		T	,,HIS/ARG,,	0,4406		0,0,2203	121.0	119.0	120.0		,,15488,,	4.2	0.9	2	dbSNP_134	120	1,8597	1.2+/-3.3	0,1,4298	yes	intron,intron,missense,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,29,,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,,,,	,,5163/5605,,	179611639	1,13003	2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611639C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4991G>A	2.37:g.179611639C>T						TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	p.R5163H	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15710	-			7080			Ig-like 32.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15488G>A		.	.	.	.	.	.	.	.	.	.	c	5.845	0.340101	0.11069	0.0	1.16E-4	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.61859	0.07	5.95	4.19	0.49359	.	.	.	.	.	T	0.40297	0.1111	L	0.29908	0.895	0.80722	D	1	B	0.31625	0.332	B	0.19946	0.027	T	0.23368	-1.0190	9	0.42905	T	0.14	.	8.9496	0.35781	0.0:0.7584:0.1194:0.1222	.	5163	Q8WZ42-6	.	H	5163;444	ENSP00000354117:R5163H	ENSP00000304714:R444H	R	-	2	0	TTN	179319884	0.002000	0.14202	0.908000	0.35775	0.481000	0.33189	0.210000	0.17455	0.883000	0.36040	-0.713000	0.03633	CGT		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	142	0	0	0	1	0	29	142				
GPBAR1	151306	broad.mit.edu	37	2	219127452	219127452	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:219127452C>T	ENST00000522678.1	+	2	873	c.5C>T	c.(4-6)aCg>aTg	p.T2M	GPBAR1_ENST00000479077.1_Missense_Mutation_p.T2M|GPBAR1_ENST00000521462.1_Missense_Mutation_p.T2M|GPBAR1_ENST00000519574.1_Missense_Mutation_p.T2M	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	2					cell surface bile acid receptor signaling pathway (GO:0038184)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid receptor activity (GO:0038181)|G-protein coupled bile acid receptor activity (GO:0038182)			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCAAGATGACGCCCAACAGC	0.662																																						ENST00000522678.1																			0				cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4						c.(4-6)aCg>aTg		G protein-coupled bile acid receptor 1							12.0	15.0	14.0					2																	219127452		2057	4173	6230	SO:0001583	missense	151306					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:219127452C>T	AB086170	CCDS46515.1	2q35	2012-08-08			ENSG00000179921	ENSG00000179921			19680	protein-coding gene	gene with protein product		610147				12419312	Standard	NM_170699		Approved	BG37, GPCR, TGR5, M-BAR, GPCR19, GPR131, MGC40597	uc010zjw.1	Q8TDU6	OTTHUMG00000155203	ENST00000522678.1:c.5C>T	2.37:g.219127452C>T	ENSP00000430886:p.Thr2Met					GPBAR1_ENST00000519574.1_Missense_Mutation_p.T2M|GPBAR1_ENST00000521462.1_Missense_Mutation_p.T2M|GPBAR1_ENST00000479077.1_Missense_Mutation_p.T2M	p.T2M	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	873	+		Renal(207;0.0474)	2					B3KV35	Missense_Mutation	SNP	ENST00000522678.1	37	c.5C>T	CCDS46515.1	.	.	.	.	.	.	.	.	.	.	C	3.574	-0.086945	0.07097	.	.	ENSG00000179921	ENST00000479077;ENST00000522678;ENST00000519574;ENST00000521462	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	4.62	3.75	0.43078	.	0.558951	0.13353	U	0.394222	T	0.15176	0.0366	N	0.14661	0.345	0.30191	N	0.799503	B	0.11235	0.004	B	0.06405	0.002	T	0.09640	-1.0665	10	0.42905	T	0.14	-1.3879	8.7386	0.34543	0.0:0.8976:0.0:0.1024	.	2	Q8TDU6	GPBAR_HUMAN	M	2	ENSP00000430698:T2M;ENSP00000430886:T2M;ENSP00000430202:T2M;ENSP00000428824:T2M	ENSP00000430698:T2M	T	+	2	0	GPBAR1	218835697	0.198000	0.23374	1.000000	0.80357	0.028000	0.11728	0.871000	0.28023	1.187000	0.43000	-0.263000	0.10527	ACG		0.662	GPBAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338767.3	NM_001077191		8	7	0	0	0	1	0	8	7				
SLC44A5	204962	broad.mit.edu	37	1	75684273	75684273	+	Silent	SNP	G	G	A	rs148196192		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:75684273G>A	ENST00000370855.5	-	17	1544	c.1431C>T	c.(1429-1431)tgC>tgT	p.C477C	SLC44A5_ENST00000535611.1_Silent_p.C347C|SLC44A5_ENST00000370859.3_Silent_p.C477C	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	477					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CAGCAAGGGCGCACTGACCTA	0.438																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1429-1431)tgC>tgT		solute carrier family 44, member 5		G	,	0,4406		0,0,2203	143.0	133.0	137.0		1431,1431	2.0	0.9	1	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC44A5	NM_001130058.1,NM_152697.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	477/718,477/720	75684273	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75684273G>A	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1431C>T	1.37:g.75684273G>A						SLC44A5_ENST00000535611.1_Silent_p.C347C|SLC44A5_ENST00000370859.3_Silent_p.C477C	p.C477C	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			17	1544	-			477					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	ENST00000370855.5	37	c.1431C>T	CCDS667.1																																																																																				0.438	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		3	39	0	0	0	1	0	3	39				
SAMD9L	219285	broad.mit.edu	37	7	92764432	92764432	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr7:92764432G>A	ENST00000318238.4	-	5	2069	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	SAMD9L_ENST00000411955.1_Missense_Mutation_p.R285W|SAMD9L_ENST00000437805.1_Missense_Mutation_p.R285W	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	285					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTGGCTCCCGAATACACTTC	0.373																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(853-855)Cgg>Tgg		sterile alpha motif domain containing 9-like							98.0	102.0	101.0					7																	92764432		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92764432G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.853C>T	7.37:g.92764432G>A	ENSP00000326247:p.Arg285Trp					SAMD9L_ENST00000411955.1_Missense_Mutation_p.R285W|SAMD9L_ENST00000437805.1_Missense_Mutation_p.R285W	p.R285W	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	2069	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		285					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.853C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855515	0.51376	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.14516	2.5;2.5;2.5	4.95	1.9	0.25705	.	0.311174	0.23340	N	0.049257	T	0.13157	0.0319	M	0.61703	1.905	0.30918	N	0.728362	B	0.27910	0.193	B	0.23574	0.047	T	0.07693	-1.0759	10	0.87932	D	0	-1.83	6.2589	0.20889	0.1783:0.0:0.6242:0.1975	.	285	Q8IVG5	SAM9L_HUMAN	W	285	ENSP00000326247:R285W;ENSP00000405760:R285W;ENSP00000408796:R285W	ENSP00000326247:R285W	R	-	1	2	SAMD9L	92602368	0.639000	0.27234	1.000000	0.80357	0.893000	0.52053	0.845000	0.27668	0.685000	0.31468	-0.384000	0.06662	CGG		0.373	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		12	162	0	0	0	1	0	12	162				
KLB	152831	broad.mit.edu	37	4	39448717	39448717	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr4:39448717G>T	ENST00000257408.4	+	4	2468	c.2371G>T	c.(2371-2373)Gcc>Tcc	p.A791S		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	791	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GGAATACATTGCCTCCAAGCA	0.672																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(2371-2373)Gcc>Tcc		klotho beta							29.0	32.0	31.0					4																	39448717		2201	4296	6497	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448717G>T	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2371G>T	4.37:g.39448717G>T	ENSP00000257408:p.Ala791Ser						p.A791S	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			4	2468	+			791			Glycosyl hydrolase-1 2.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.2371G>T	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	0.381	-0.928735	0.02359	.	.	ENSG00000134962	ENST00000257408	T	0.29142	1.58	4.95	3.23	0.37069	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.561638	0.19197	N	0.120279	T	0.25901	0.0631	L	0.49513	1.565	0.09310	N	1	P;P	0.39576	0.679;0.679	B;B	0.40066	0.318;0.318	T	0.09271	-1.0682	10	0.30078	T	0.28	-10.5099	6.0428	0.19744	0.2262:0.1354:0.6384:0.0	.	782;791	B7ZL50;Q86Z14	.;KLOTB_HUMAN	S	791	ENSP00000257408:A791S	ENSP00000257408:A791S	A	+	1	0	KLB	39125112	0.003000	0.15002	0.482000	0.27366	0.045000	0.14185	1.101000	0.31037	0.507000	0.28148	0.313000	0.20887	GCC		0.672	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		24	13	1	0	2.44723e-14	1	2.60614e-14	24	13				
PHOSPHO1	162466	broad.mit.edu	37	17	47304069	47304069	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs376447815		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr17:47304069G>A	ENST00000310544.4	-	0	112				PHOSPHO1_ENST00000413580.1_De_novo_Start_InFrame|PHOSPHO1_ENST00000514112.1_De_novo_Start_InFrame			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1						bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	GTGCATTACCGTGAGCACCAC	0.562																																						ENST00000310544.4																			0													phosphatase, orphan 1	Choline(DB00122)	G	,	2,4404	4.2+/-10.8	0,2,2201	108.0	93.0	98.0		,	0.4	0.1	17		98	0,8600		0,0,4300	no	utr-5,utr-5	PHOSPHO1	NM_001143804.1,NM_178500.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	,	47304069	2,13004	2203	4300	6503			0				regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity	g.chr17:47304069G>A	AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.-16C>T	17.37:g.47304069G>A						PHOSPHO1_ENST00000514112.1_De_novo_Start_InFrame|PHOSPHO1_ENST00000413580.1_De_novo_Start_InFrame				Q8TCT1	PHOP1_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		0	112	-								E9PAM0|Q17RU6	Translation_Start_Site	SNP	ENST00000310544.4	37		CCDS11547.1																																																																																				0.562	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364467.2			12	42	0	0	0	1	0	12	42				
LTN1	26046	broad.mit.edu	37	21	30343646	30343646	+	Missense_Mutation	SNP	T	T	C	rs139463338		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr21:30343646T>C	ENST00000361371.5	-	7	1010	c.931A>G	c.(931-933)Att>Gtt	p.I311V	LTN1_ENST00000389194.2_Missense_Mutation_p.I357V|LTN1_ENST00000389195.2_Missense_Mutation_p.I357V			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	311					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGGCAGACAATTGGGTCACTG	0.448													T|||	1	0.000199681	0.0008	0.0	5008	,	,		15516	0.0		0.0	False		,,,				2504	0.0					ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(931-933)Att>Gtt		listerin E3 ubiquitin protein ligase 1		T	VAL/ILE	4,4402	8.1+/-20.4	0,4,2199	202.0	190.0	194.0		1069	-1.9	0.0	21	dbSNP_134	194	0,8600		0,0,4300	yes	missense	LTN1	NM_015565.2	29	0,4,6499	CC,CT,TT		0.0,0.0908,0.0308	benign	357/1813	30343646	4,13002	2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30343646T>C	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.931A>G	21.37:g.30343646T>C	ENSP00000354977:p.Ile311Val					LTN1_ENST00000389195.2_Missense_Mutation_p.I357V|LTN1_ENST00000389194.2_Missense_Mutation_p.I357V	p.I311V	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			7	1081	-			311					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.931A>G		.	.	.	.	.	.	.	.	.	.	T	0.806	-0.753704	0.03041	9.08E-4	0.0	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.66460	3.6;3.6;-0.21	4.66	-1.94	0.07571	Armadillo-like helical (1);Armadillo-type fold (1);	0.820641	0.10930	N	0.618470	T	0.23611	0.0571	N	0.00159	-1.955	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37731	-0.9693	10	0.09338	T	0.73	.	11.8354	0.52321	0.0:0.7162:0.0:0.2838	.	311	O94822	LTN1_HUMAN	V	357;311;313;357	ENSP00000373846:I357V;ENSP00000354977:I311V;ENSP00000373847:I357V	ENSP00000354977:I311V	I	-	1	0	LTN1	29265517	0.001000	0.12720	0.042000	0.18584	0.989000	0.77384	-0.088000	0.11198	-0.218000	0.10018	-0.263000	0.10527	ATT		0.448	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		29	83	0	0	0	1	0	29	83				
DHX57	90957	broad.mit.edu	37	2	39053719	39053719	+	Missense_Mutation	SNP	T	T	A	rs34973087		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:39053719T>A	ENST00000295373.6	-	15	2878	c.2752A>T	c.(2752-2754)Aca>Tca	p.T918S		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	918	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GTTATGGATGTCTCAGCAATG	0.403																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2752-2754)Aca>Tca		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							163.0	147.0	152.0					2																	39053719		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39053719T>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2752A>T	2.37:g.39053719T>A	ENSP00000295373:p.Thr918Ser						p.T918S	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			15	2878	-		all_hematologic(82;0.248)	918			Helicase C-terminal.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.2752A>T	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.0|28.0	4.880115|4.880115	0.91740|0.91740	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000452978|ENST00000295373	.|T	.|0.75154	.|-0.91	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Helicase, C-terminal (3);	.|0.000000	.|0.53938	.|D	.|0.000047	T|T	0.82121|0.82121	0.4968|0.4968	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.65815	.|0.941;0.96;0.995	.|P;P;D	.|0.63283	.|0.811;0.764;0.913	D|D	0.84234|0.84234	0.0468|0.0468	5|10	.|0.87932	.|D	.|0	.|.	15.3782|15.3782	0.74630|0.74630	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|918;918;310	.|Q6P158;B4DKW2;Q59G60	.|DHX57_HUMAN;.;.	V|S	241|918	.|ENSP00000295373:T918S	.|ENSP00000295373:T918S	D|T	-|-	2|1	0|0	DHX57|DHX57	38907223|38907223	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.986000|0.986000	0.74619|0.74619	6.179000|6.179000	0.71974|0.71974	2.026000|2.026000	0.59711|0.59711	0.460000|0.460000	0.39030|0.39030	GAC|ACA		0.403	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		18	66	0	0	0	1	0	18	66				
CAMK1	8536	broad.mit.edu	37	3	9804880	9804880	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:9804880A>G	ENST00000256460.3	-	4	410	c.233T>C	c.(232-234)aTt>aCt	p.I78T	OGG1_ENST00000302036.7_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	78	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CAGGGCTACAATGTTGGGGTG	0.572																																						ENST00000256460.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12						c.(232-234)aTt>aCt		calcium/calmodulin-dependent protein kinase I							152.0	138.0	143.0					3																	9804880		2203	4300	6503	SO:0001583	missense	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9804880A>G	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.233T>C	3.37:g.9804880A>G	ENSP00000256460:p.Ile78Thr					OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron	p.I78T	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	4	410	-	Medulloblastoma(99;0.227)		78			Protein kinase.		Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	c.233T>C	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934110	0.73442	.	.	ENSG00000134072	ENST00000256460;ENST00000411972	T;T	0.76839	0.38;-1.05	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89008	0.6593	M	0.86864	2.845	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.90973	0.4821	10	0.87932	D	0	-7.6841	14.2501	0.66013	1.0:0.0:0.0:0.0	.	78	Q14012	KCC1A_HUMAN	T	78;34	ENSP00000256460:I78T;ENSP00000404587:I34T	ENSP00000256460:I78T	I	-	2	0	CAMK1	9779880	1.000000	0.71417	0.998000	0.56505	0.853000	0.48598	9.287000	0.95975	1.961000	0.56991	0.455000	0.32223	ATT		0.572	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		31	44	0	0	0	1	0	31	44				
PRRC2B	84726	broad.mit.edu	37	9	134334665	134334665	+	Silent	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr9:134334665C>T	ENST00000357304.4	+	10	1381	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S	PRRC2B_ENST00000458550.1_Silent_p.S442S|PRRC2B_ENST00000405995.1_Silent_p.S442S|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	442							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGGGTGCGTCCCGTGTGGTCC	0.637																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(1324-1326)tcC>tcT		proline-rich coiled-coil 2B							69.0	80.0	76.0					9																	134334665		2183	4276	6459	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134334665C>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.1326C>T	9.37:g.134334665C>T						PRRC2B_ENST00000458550.1_Silent_p.S442S|PRRC2B_ENST00000405995.1_Silent_p.S442S|PRRC2B_ENST00000372249.1_5'UTR	p.S442S	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			10	1381	+			442					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.1326C>T	CCDS48044.1																																																																																				0.637	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				24	19	0	0	0	1	0	24	19				
CHD5	26038	broad.mit.edu	37	1	6194808	6194808	+	Silent	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:6194808G>A	ENST00000262450.3	-	19	3081	c.2982C>T	c.(2980-2982)aaC>aaT	p.N994N	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGTAGGGGTGGTTGCAGCACT	0.572																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2980-2982)aaC>aaT		chromodomain helicase DNA binding protein 5							244.0	249.0	247.0					1																	6194808		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6194808G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2982C>T	1.37:g.6194808G>A						CHD5_ENST00000378021.1_5'UTR	p.N994N	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	19	3081	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	994					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.2982C>T	CCDS57.1																																																																																				0.572	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		14	52	0	0	0	1	0	14	52				
DNAH1	25981	broad.mit.edu	37	3	52420322	52420322	+	Silent	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:52420322G>A	ENST00000420323.2	+	55	9033	c.8772G>A	c.(8770-8772)ctG>ctA	p.L2924L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2924	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGCGGCTCTGGCCAGCCTGC	0.582																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(8770-8772)ctG>ctA		dynein, axonemal, heavy chain 1							35.0	42.0	40.0					3																	52420322		2144	4232	6376	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52420322G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8772G>A	3.37:g.52420322G>A							p.L2924L	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	55	9033	+			2924			Stalk (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.8772G>A	CCDS46842.1																																																																																				0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		4	3	0	0	0	1	0	4	3				
OR2B3	442184	broad.mit.edu	37	6	29054540	29054540	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr6:29054540C>A	ENST00000377173.2	-	1	550	c.486G>T	c.(484-486)ttG>ttT	p.L162F		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TGTTAAGAGTCAAGGAAGACT	0.488																																						ENST00000377173.2																			0				breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						c.(484-486)ttG>ttT		olfactory receptor, family 2, subfamily B, member 3							59.0	53.0	55.0					6																	29054540		2203	4300	6503	SO:0001583	missense	442184							g.chr6:29054540C>A		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.486G>T	6.37:g.29054540C>A	ENSP00000366378:p.Leu162Phe						p.L162F	NM_001005226.2	NP_001005226.1					1	550	-								B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	c.486G>T	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394097	0.42410	.	.	ENSG00000204703	ENST00000377173	T	0.00145	8.67	3.83	-0.633	0.11519	GPCR, rhodopsin-like superfamily (1);	0.232592	0.21928	U	0.067071	T	0.00073	0.0002	L	0.38692	1.165	0.09310	N	1	D	0.56746	0.977	P	0.60541	0.876	T	0.35624	-0.9781	10	0.30854	T	0.27	.	2.4512	0.04518	0.1249:0.3666:0.3215:0.187	.	162	O76000	OR2B3_HUMAN	F	162	ENSP00000366378:L162F	ENSP00000366378:L162F	L	-	3	2	OR2B3	29162519	0.000000	0.05858	0.298000	0.25002	0.978000	0.69477	-0.830000	0.04410	-0.168000	0.10853	0.530000	0.56133	TTG		0.488	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			12	22	1	0	6.40141e-05	1	6.56145e-05	12	22				
GDI2	2665	broad.mit.edu	37	10	5827898	5827898	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr10:5827898C>T	ENST00000380191.4	-	5	794	c.504G>A	c.(502-504)atG>atA	p.M168I	GDI2_ENST00000380132.4_Missense_Mutation_p.M172I|GDI2_ENST00000380181.3_Missense_Mutation_p.M123I	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	168					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						ACACATCTCGCATTGTGGTCT	0.363																																						ENST00000380191.4																			0				NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.(502-504)atG>atA		GDP dissociation inhibitor 2							139.0	131.0	134.0					10																	5827898		2203	4300	6503	SO:0001583	missense	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5827898C>T	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.504G>A	10.37:g.5827898C>T	ENSP00000369538:p.Met168Ile					GDI2_ENST00000380181.3_Missense_Mutation_p.M123I|GDI2_ENST00000380132.4_Missense_Mutation_p.M172I	p.M168I	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN			5	794	-			168					O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	c.504G>A	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584227	0.46110	.	.	ENSG00000057608	ENST00000380191;ENST00000380153;ENST00000380132;ENST00000380181;ENST00000456041;ENST00000418688	D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14	5.41	4.51	0.55191	.	0.000000	0.85682	D	0.000000	D	0.87253	0.6131	M	0.64997	1.995	0.80722	D	1	B;B;B	0.28026	0.198;0.04;0.036	B;B;B	0.36766	0.232;0.081;0.053	D	0.85985	0.1485	10	0.52906	T	0.07	-15.8573	14.2167	0.65797	0.0:0.9272:0.0:0.0728	.	172;123;168	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	I	168;1;172;123;158;132	ENSP00000369538:M168I;ENSP00000369475:M172I;ENSP00000369528:M123I;ENSP00000401733:M158I;ENSP00000394177:M132I	ENSP00000369475:M172I	M	-	3	0	GDI2	5867904	1.000000	0.71417	0.999000	0.59377	0.293000	0.27360	7.664000	0.83830	1.432000	0.47375	0.655000	0.94253	ATG		0.363	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		35	33	0	0	0	1	0	35	33				
GOLGA3	2802	broad.mit.edu	37	12	133384808	133384808	+	Missense_Mutation	SNP	C	C	T	rs200254047	byFrequency	TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr12:133384808C>T	ENST00000450791.2	-	4	1030	c.847G>A	c.(847-849)Gtt>Att	p.V283I	GOLGA3_ENST00000537452.1_Missense_Mutation_p.V283I|GOLGA3_ENST00000545875.1_Missense_Mutation_p.V283I|GOLGA3_ENST00000204726.3_Missense_Mutation_p.V283I|GOLGA3_ENST00000456883.2_Missense_Mutation_p.V283I			Q08378	GOGA3_HUMAN	golgin A3	283					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCAGACACAACGGACGCCGCA	0.567													C|||	2	0.000399361	0.0015	0.0	5008	,	,		13231	0.0		0.0	False		,,,				2504	0.0					ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(847-849)Gtt>Att		golgin A3							121.0	125.0	124.0					12																	133384808		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133384808C>T	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.847G>A	12.37:g.133384808C>T	ENSP00000410378:p.Val283Ile					GOLGA3_ENST00000456883.2_Missense_Mutation_p.V283I|GOLGA3_ENST00000450791.2_Missense_Mutation_p.V283I|GOLGA3_ENST00000545875.1_Missense_Mutation_p.V283I|GOLGA3_ENST00000537452.1_Missense_Mutation_p.V283I	p.V283I	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	5	1405	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	283					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.847G>A	CCDS9281.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	13.95	2.390794	0.42410	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.32	4.43	0.53597	.	0.439287	0.26013	N	0.026872	T	0.35566	0.0936	M	0.66939	2.045	0.80722	D	1	D;P;P	0.53151	0.958;0.889;0.827	B;B;B	0.42995	0.404;0.279;0.32	T	0.38478	-0.9659	10	0.66056	D	0.02	.	14.2446	0.65981	0.0:0.9277:0.0:0.0723	.	283;283;283	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	I	283	ENSP00000204726:V283I;ENSP00000410378:V283I;ENSP00000409303:V283I;ENSP00000442143:V283I;ENSP00000442603:V283I	ENSP00000204726:V283I	V	-	1	0	GOLGA3	131894881	0.921000	0.31238	0.455000	0.27031	0.086000	0.17979	2.313000	0.43735	1.388000	0.46506	0.650000	0.86243	GTT		0.567	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		26	54	0	0	0	1	0	26	54				
RFX3	5991	broad.mit.edu	37	9	3293233	3293233	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr9:3293233T>C	ENST00000382004.3	-	7	886	c.575A>G	c.(574-576)gAg>gGg	p.E192G	RFX3_ENST00000358730.2_Missense_Mutation_p.E192G|RFX3_ENST00000302303.1_Missense_Mutation_p.E192G	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	192					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTCTGCTGTCTCATAATTGTC	0.438																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(574-576)gAg>gGg		regulatory factor X, 3 (influences HLA class II expression)							88.0	76.0	80.0					9																	3293233		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3293233T>C	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.575A>G	9.37:g.3293233T>C	ENSP00000371434:p.Glu192Gly					RFX3_ENST00000358730.2_Missense_Mutation_p.E192G|RFX3_ENST00000302303.1_Missense_Mutation_p.E192G	p.E192G	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	7	886	-			192					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.575A>G	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.998553	0.93227	.	.	ENSG00000080298	ENST00000382004;ENST00000381992;ENST00000358730;ENST00000302303;ENST00000457373	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.72	5.72	0.89469	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	D	0.94112	0.8112	M	0.92555	3.32	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.899;0.977	D;D;P;P	0.87578	0.997;0.998;0.786;0.904	D	0.95155	0.8276	10	0.62326	D	0.03	-14.9213	15.9989	0.80275	0.0:0.0:0.0:1.0	.	167;192;192;192	B1ANP5;P48380-3;P48380-2;P48380	.;.;.;RFX3_HUMAN	G	192;167;192;192;167	ENSP00000371434:E192G;ENSP00000351574:E192G;ENSP00000303847:E192G;ENSP00000405664:E167G	ENSP00000303847:E192G	E	-	2	0	RFX3	3283233	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	7.963000	0.87922	2.179000	0.69175	0.482000	0.46254	GAG		0.438	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		40	3	0	0	0	1	0	40	3				
MAEL	84944	broad.mit.edu	37	1	166973530	166973530	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:166973530A>G	ENST00000367872.4	+	6	881	c.637A>G	c.(637-639)Atc>Gtc	p.I213V	RNA5SP65_ENST00000363166.1_RNA|MAEL_ENST00000367870.2_Missense_Mutation_p.I182V|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	213					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CTGGCCACCTATCTACTGCAA	0.343																																						ENST00000367872.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						c.(637-639)Atc>Gtc		maelstrom spermatogenic transposon silencer							70.0	72.0	71.0					1																	166973530		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166973530A>G	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.637A>G	1.37:g.166973530A>G	ENSP00000356846:p.Ile213Val					MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.I182V	p.I213V	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN			6	881	+			213					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.637A>G	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	A	7.381	0.628865	0.14257	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.42131	0.98;1.0;1.02	5.6	0.124	0.14714	.	0.342879	0.25227	N	0.032194	T	0.06188	0.0160	N	0.04508	-0.205	0.24627	N	0.993647	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.41627	-0.9498	10	0.22109	T	0.4	.	9.5215	0.39138	0.6672:0.0:0.3327:0.0	.	182;213	E9JVC3;Q96JY0	.;MAEL_HUMAN	V	213;182;182	ENSP00000356846:I213V;ENSP00000356844:I182V;ENSP00000402143:I182V	ENSP00000356844:I182V	I	+	1	0	MAEL	165240154	0.420000	0.25457	0.948000	0.38648	0.923000	0.55619	0.110000	0.15437	0.082000	0.17018	0.482000	0.46254	ATC		0.343	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		15	39	0	0	0	1	0	15	39				
HOXB4	3214	broad.mit.edu	37	17	46655328	46655328	+	Silent	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr17:46655328C>T	ENST00000332503.5	-	1	2145	c.354G>A	c.(352-354)ccG>ccA	p.P118P	HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000465120.3_Intron|MIR10A_ENST00000385043.1_RNA|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000485909.2_5'Flank|HOXB3_ENST00000472863.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	118	Pro-rich (part of the transcriptional activation domain).				anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						AGGGAGGCGGCGGGGGGCTGC	0.751																																						ENST00000332503.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						c.(352-354)ccG>ccA		homeobox B4							11.0	15.0	14.0					17																	46655328		2048	4030	6078	SO:0001819	synonymous_variant	3214					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46655328C>T		CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"""Homeoboxes / ANTP class : HOXL subclass"""	5115	protein-coding gene	gene with protein product		142965	"""homeo box B4"""	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.354G>A	17.37:g.46655328C>T						HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron	p.P118P	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN			1	2145	-			118			Pro-rich (part of the transcriptional activation domain).		Q9NTA0	Silent	SNP	ENST00000332503.5	37	c.354G>A	CCDS11529.1																																																																																				0.751	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2			16	12	0	0	0	1	0	16	12				
TRIM51HP	440041	broad.mit.edu	37	11	55062966	55062966	+	RNA	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr11:55062966C>T	ENST00000526016.1	-	0	671					NR_038174.2				tripartite motif-containing 51H, pseudogene																		CTTTATGGCACATTTTCTTCA	0.438																																						ENST00000526016.1																			0																																																			0							g.chr11:55062966C>T			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55062966C>T								NR_038174.2						0	671	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.438	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			9	36	0	0	0	1	0	9	36				
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs369119448|rs112443847		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	ZFHX3_ENST00000397992.5_Silent_p.G2605G|RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716																																						ENST00000268489.5																			3	Substitution - coding silent(3)	p.G3519G(3)	lung(2)|prostate(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10555-10557)ggT>ggC		zinc finger homeobox 3							9.0	13.0	11.0					16																	72821618		1463	3169	4632	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821618A>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10557T>C	16.37:g.72821618A>G						ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	p.G3519G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11229	-		Ovarian(137;0.13)	3519			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10557T>C	CCDS10908.1																																																																																				0.716	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	48	0	0	0	1	0	4	48				
OR5B2	390190	broad.mit.edu	37	11	58190261	58190261	+	Silent	SNP	A	A	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr11:58190261A>G	ENST00000302581.2	-	1	525	c.474T>C	c.(472-474)atT>atC	p.I158I		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATATGCCCCCAATGTGGAATG	0.483																																						ENST00000302581.2																			0				NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(472-474)atT>atC		olfactory receptor, family 5, subfamily B, member 2							66.0	59.0	61.0					11																	58190261		2201	4295	6496	SO:0001819	synonymous_variant	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190261A>G	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.474T>C	11.37:g.58190261A>G							p.I158I	NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN			1	525	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	158					B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	ENST00000302581.2	37	c.474T>C	CCDS31550.1																																																																																				0.483	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		10	50	0	0	0	1	0	10	50				
SLC35A3	23443	broad.mit.edu	37	1	100483315	100483315	+	Silent	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:100483315G>A	ENST00000370155.3	+	7	1223	c.831G>A	c.(829-831)tcG>tcA	p.S277S	SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000427993.2_Silent_p.S277S|SLC35A3_ENST00000465289.1_Intron|SLC35A3_ENST00000370153.1_Silent_p.S319S	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	277					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		CCTCTTTATCGATAATATTAT	0.294																																					Ovarian(7;298 356 944 2149 6911)	ENST00000370155.3																			0				biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11						c.(829-831)tcG>tcA		solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3							57.0	59.0	58.0					1																	100483315		2202	4284	6486	SO:0001819	synonymous_variant	23443				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity	g.chr1:100483315G>A	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"""Solute carriers"""	11023	protein-coding gene	gene with protein product		605632	"""solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"""			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.831G>A	1.37:g.100483315G>A						SLC35A3_ENST00000427993.2_Silent_p.S277S|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000465289.1_Intron|SLC35A3_ENST00000370153.1_Silent_p.S319S	p.S277S	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)	7	1223	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	277					A8K3F8|D3DT54|Q68CR2|Q9BSB7	Silent	SNP	ENST00000370155.3	37	c.831G>A	CCDS762.1																																																																																				0.294	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	NM_012243		16	15	0	0	0	1	0	16	15				
SMURF2P1	107133516	broad.mit.edu	37	17	28935540	28935540	+	RNA	SNP	G	G	A	rs370997062		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr17:28935540G>A	ENST00000579301.1	+	0	391									SMAD specific E3 ubiquitin protein ligase 2 pseudogene 1																		CGTTGTGTTCGTCTTTTTCCA	0.363																																						ENST00000578265.1																			0																																																			0							g.chr17:28935540G>A			17q11.2	2012-10-05			ENSG00000248121	ENSG00000248121			44402	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000132798		17.37:g.28935540G>A														0	193	+									RNA	SNP	ENST00000579301.1	37																																																																																						0.363	SMURF2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444254.1			3	30	0	0	0	1	0	3	30				
SART1	9092	broad.mit.edu	37	11	65729299	65729299	+	Silent	SNP	G	G	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr11:65729299G>T	ENST00000312397.5	+	1	140	c.48G>T	c.(46-48)acG>acT	p.T16T	SART1_ENST00000528573.1_3'UTR|TSGA10IP_ENST00000608857.1_RNA|TSGA10IP_ENST00000532620.1_RNA	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	16					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						cggccgggacgacggcggcgg	0.697																																						ENST00000312397.5																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(46-48)acG>acT		squamous cell carcinoma antigen recognized by T cells							8.0	12.0	10.0					11																	65729299		2042	4033	6075	SO:0001819	synonymous_variant	9092				cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		g.chr11:65729299G>T	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.48G>T	11.37:g.65729299G>T						SART1_ENST00000528573.1_3'UTR	p.T16T	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN			1	140	+			16					A6NDN1|Q53GB5	Silent	SNP	ENST00000312397.5	37	c.48G>T	CCDS31611.1																																																																																				0.697	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			8	23	1	0	0.00307968	1	0.00307968	8	23				
CSMD1	64478	broad.mit.edu	37	8	3611478	3611478	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr8:3611478C>T	ENST00000520002.1	-	6	1460	c.905G>A	c.(904-906)cGc>cAc	p.R302H	CSMD1_ENST00000602557.1_Missense_Mutation_p.R302H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R302H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R302H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R302H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R302H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R302H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	302	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAATCCTTTGCGTCGGTGGTT	0.413																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(904-906)cGc>cAc		CUB and Sushi multiple domains 1							105.0	100.0	102.0					8																	3611478		1850	4087	5937	SO:0001583	missense	64478					integral to membrane		g.chr8:3611478C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.905G>A	8.37:g.3611478C>T	ENSP00000430733:p.Arg302His					CSMD1_ENST00000602723.1_Missense_Mutation_p.R302H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R302H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R302H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R302H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R302H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R302H	p.R302H			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	6	1460	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	302			CUB 2.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.905G>A		.	.	.	.	.	.	.	.	.	.	C	9.682	1.149489	0.21288	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27	6.08	6.08	0.98989	.	.	.	.	.	D	0.89301	0.6676	L	0.33093	0.98	0.31473	N	0.668188	D	0.71674	0.998	D	0.63597	0.916	D	0.84050	0.0369	9	0.15499	T	0.54	.	20.2825	0.98528	0.0:1.0:0.0:0.0	.	302	E5RIG2	.	H	302;302;164;302;302;302	ENSP00000383047:R302H;ENSP00000430733:R302H;ENSP00000441462:R302H;ENSP00000446243:R302H;ENSP00000441675:R302H	ENSP00000320445:R164H	R	-	2	0	CSMD1	3598886	1.000000	0.71417	0.992000	0.48379	0.255000	0.26057	3.666000	0.54540	2.894000	0.99253	0.591000	0.81541	CGC		0.413	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		11	19	0	0	0	1	0	11	19				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	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_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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			45	38	0	0	0	1	0	45	38				
SLC12A3	6559	broad.mit.edu	37	16	56926069	56926069	+	Intron	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:56926069G>A	ENST00000563236.1	+	20	2444				SLC12A3_ENST00000566786.1_Missense_Mutation_p.A814T|SLC12A3_ENST00000438926.2_Missense_Mutation_p.A815T|SLC12A3_ENST00000262502.5_Intron			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AGTCTCTGGCGCTTGTCAGTG	0.587																																						ENST00000438926.2																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2443-2445)Gct>Act		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						80.0	78.0	79.0					16																	56926069		2198	4300	6498	SO:0001627	intron_variant	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56926069G>A		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2419+24G>A	16.37:g.56926069G>A						SLC12A3_ENST00000262502.5_Intron|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A814T|SLC12A3_ENST00000563236.1_Intron	p.A815T	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			20	2472	+			806					A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.2443G>A	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	4.127	0.021906	0.08006	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.0	2.7	0.31948	.	0.682893	0.14495	N	0.316116	T	0.16557	0.0398	.	.	.	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.29274	-1.0017	8	0.12103	T	0.63	.	3.7923	0.08726	0.7044:0.0:0.1072:0.1883	.	814;815	P55017-3;P55017-2	.;.	T	814;815	.	ENSP00000262502:A815T	A	+	1	0	SLC12A3	55483570	0.049000	0.20398	0.021000	0.16686	0.005000	0.04900	1.849000	0.39318	0.343000	0.23821	0.655000	0.94253	GCT		0.587	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			33	34	0	0	0	1	0	33	34				
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G	rs376401117	byFrequency	TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522													.|||	3	0.000599042	0.0	0.0	5008	,	,		19711	0.002		0.0	False		,,,				2504	0.001					ENST00000449207.2																			0				lung(2)|ovary(2)|stomach(1)	5						c.(1159-1161)Atg>Ctg		PR domain containing 7		T	LEU/MET,	0,3874		0,0,1937	115.0	114.0	115.0		1159,	2.2	1.0	16		115	1,8265		0,1,4132	no	missense,intron	PRDM7	NM_001098173.1,NM_052996.2	15,	0,1,6069	GG,GT,TT		0.0121,0.0,0.0082	benign,	387/493,	90126823	1,12139	1937	4133	6070	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90126823T>G	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1159A>C	16.37:g.90126823T>G	ENSP00000396732:p.Met387Leu					PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	p.M387L	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1178	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	387					A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.1159A>C	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	7.534	0.659380	0.14645	0.0	1.21E-4	ENSG00000126856	ENST00000449207	T	0.10960	2.82	2.22	2.22	0.28083	.	.	.	.	.	T	0.05364	0.0142	N	0.14661	0.345	0.80722	D	1	B	0.13594	0.008	B	0.04013	0.001	T	0.34700	-0.9818	8	.	.	.	-8.2214	6.7211	0.23330	0.0:0.0:0.0:1.0	.	387	Q9NQW5	PRDM7_HUMAN	L	387	ENSP00000396732:M387L	.	M	-	1	0	PRDM7	88654324	0.994000	0.37717	0.991000	0.47740	0.589000	0.36550	3.111000	0.50360	0.995000	0.38917	0.392000	0.25879	ATG		0.522	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			3	73	0	0	0	1	0	3	73				
STK31	56164	broad.mit.edu	37	7	23793986	23793986	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr7:23793986G>A	ENST00000355870.3	+	10	1305	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M	STK31_ENST00000433467.2_Missense_Mutation_p.V396M|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.V373M|STK31_ENST00000354639.3_Missense_Mutation_p.V373M	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	396						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGCTATACAAGTGTTGGATGA	0.363																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1117-1119)Gtg>Atg		serine/threonine kinase 31							158.0	153.0	155.0					7																	23793986		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23793986G>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1186G>A	7.37:g.23793986G>A	ENSP00000348132:p.Val396Met					STK31_ENST00000433467.2_Missense_Mutation_p.V396M|STK31_ENST00000355870.3_Missense_Mutation_p.V396M|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.V373M	p.V373M	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			10	1581	+			396					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1117G>A	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300088	0.40694	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	5.96	1.09	0.20402	.	0.400663	0.24654	N	0.036681	T	0.12987	0.0315	M	0.64997	1.995	0.28051	N	0.933363	B;B	0.19445	0.036;0.036	B;B	0.17979	0.02;0.02	T	0.14420	-1.0473	10	0.54805	T	0.06	-1.0811	5.5909	0.17301	0.2934:0.1316:0.575:0.0	.	396;396	B4DZ06;Q9BXU1	.;STK31_HUMAN	M	396;396;373;373	ENSP00000348132:V396M;ENSP00000411852:V396M;ENSP00000346660:V373M;ENSP00000406146:V373M	ENSP00000346660:V373M	V	+	1	0	STK31	23760511	0.748000	0.28294	0.976000	0.42696	0.878000	0.50629	0.099000	0.15210	-0.066000	0.12998	0.585000	0.79938	GTG		0.363	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		35	97	0	0	0	1	0	35	97				
ATP8B3	148229	broad.mit.edu	37	19	1800065	1800065	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr19:1800065C>T	ENST00000310127.6	-	14	1671	c.1433G>A	c.(1432-1434)cGc>cAc	p.R478H	ATP8B3_ENST00000526092.2_Missense_Mutation_p.R425H|ATP8B3_ENST00000539485.1_Missense_Mutation_p.R478H|ATP8B3_ENST00000525591.1_Missense_Mutation_p.R431H	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	478					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GCTGGTGCTGCGGGCCTTGGC	0.587																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(1432-1434)cGc>cAc		ATPase, aminophospholipid transporter, class I, type 8B, member 3							41.0	48.0	46.0					19																	1800065		2193	4285	6478	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1800065C>T	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1433G>A	19.37:g.1800065C>T	ENSP00000311336:p.Arg478His					ATP8B3_ENST00000525591.1_Missense_Mutation_p.R431H|ATP8B3_ENST00000526092.1_Missense_Mutation_p.R425H|ATP8B3_ENST00000310127.6_Missense_Mutation_p.R478H	p.R478H			O60423	AT8B3_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)	14	1666	-		Hepatocellular(1079;0.137)	478					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.1433G>A	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779790	0.70222	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	3.41	3.41	0.39046	.	0.000000	0.85682	D	0.000000	D	0.96002	0.8698	M	0.92122	3.275	0.41630	D	0.989012	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.96795	0.9585	10	0.59425	D	0.04	.	14.0223	0.64563	0.0:1.0:0.0:0.0	.	425;478;431	F5H3R9;O60423;Q7Z485	.;AT8B3_HUMAN;.	H	478;478;431;425;425	ENSP00000311336:R478H;ENSP00000443574:R478H;ENSP00000437115:R431H;ENSP00000445204:R425H	ENSP00000311336:R478H	R	-	2	0	ATP8B3	1751065	1.000000	0.71417	0.993000	0.49108	0.336000	0.28762	7.258000	0.78371	1.762000	0.52044	0.555000	0.69702	CGC		0.587	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		10	10	0	0	0	1	0	10	10				
SERPINB10	5273	broad.mit.edu	37	18	61600315	61600315	+	Nonsense_Mutation	SNP	A	A	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr18:61600315A>T	ENST00000238508.3	+	7	726	c.667A>T	c.(667-669)Aag>Tag	p.K223*		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	223					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GATGTTTATGAAGAAAAAGCT	0.373																																						ENST00000238508.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(667-669)Aag>Tag		serpin peptidase inhibitor, clade B (ovalbumin), member 10							89.0	97.0	94.0					18																	61600315		2203	4300	6503	SO:0001587	stop_gained	5273							g.chr18:61600315A>T	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.667A>T	18.37:g.61600315A>T	ENSP00000238508:p.Lys223*						p.K223*	NM_005024.1	NP_005015.1					7	726	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Nonsense_Mutation	SNP	ENST00000238508.3	37	c.667A>T	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.261750	0.59431	.	.	ENSG00000242550	ENST00000238508	.	.	.	5.95	4.78	0.61160	.	0.204751	0.49916	D	0.000126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.547	0.33429	0.7998:0.1315:0.0687:0.0	.	.	.	.	X	223	.	ENSP00000238508:K223X	K	+	1	0	SERPINB10	59751295	0.174000	0.23070	0.977000	0.42913	0.052000	0.14988	1.251000	0.32862	1.062000	0.40625	0.533000	0.62120	AAG		0.373	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		77	47	0	0	0	1	0	77	47				
TSHZ2	128553	broad.mit.edu	37	20	51871432	51871432	+	Missense_Mutation	SNP	G	G	A	rs188447984	byFrequency	TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr20:51871432G>A	ENST00000371497.5	+	2	2322	c.1435G>A	c.(1435-1437)Gtg>Atg	p.V479M	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.V476M|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V476M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	479					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGAGAAAGTCGTGAAAAGCGA	0.413													G|||	2	0.000399361	0.0	0.0014	5008	,	,		20665	0.001		0.0	False		,,,				2504	0.0					ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(1435-1437)Gtg>Atg		teashirt zinc finger homeobox 2		G	MET/VAL,MET/VAL	0,4406		0,0,2203	92.0	98.0	96.0		1426,1435	-4.4	0.0	20		96	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	TSHZ2	NM_001193421.1,NM_173485.5	21,21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	476/1032,479/1035	51871432	2,13004	2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871432G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1435G>A	20.37:g.51871432G>A	ENSP00000360552:p.Val479Met					TSHZ2_ENST00000603338.2_Missense_Mutation_p.V476M|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V476M	p.V479M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2322	+			479					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1435G>A	CCDS33490.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	4.912	0.169438	0.09339	0.0	2.33E-4	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.14144	2.53;2.53	5.95	-4.39	0.03611	.	0.938885	0.09047	N	0.856446	T	0.11410	0.0278	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.28681	-1.0036	10	0.45353	T	0.12	-16.5815	10.5752	0.45223	0.1694:0.1535:0.6771:0.0	.	479	Q9NRE2	TSH2_HUMAN	M	479;476;5	ENSP00000360552:V479M;ENSP00000333114:V476M	ENSP00000333114:V476M	V	+	1	0	TSHZ2	51304839	0.000000	0.05858	0.001000	0.08648	0.457000	0.32468	-0.094000	0.11094	-1.182000	0.02727	0.643000	0.83706	GTG		0.413	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		7	75	0	0	0	1	0	7	75				
TRMT2B	79979	broad.mit.edu	37	X	100278580	100278580	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chrX:100278580G>A	ENST00000372936.3	-	8	1407	c.635C>T	c.(634-636)tCt>tTt	p.S212F	TRMT2B_ENST00000372931.5_Missense_Mutation_p.S212F|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372935.1_Missense_Mutation_p.S212F|TRMT2B_ENST00000338687.7_Missense_Mutation_p.S167F|TRMT2B_ENST00000372939.1_Missense_Mutation_p.S167F|TRMT2B_ENST00000545398.1_Missense_Mutation_p.S212F	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	212						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CTCCAATGGAGACTGTCGAAG	0.448																																						ENST00000338687.7																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(499-501)tCt>tTt		tRNA methyltransferase 2 homolog B (S. cerevisiae)							110.0	88.0	95.0					X																	100278580		2203	4300	6503	SO:0001583	missense	79979						tRNA (uracil-5-)-methyltransferase activity	g.chrX:100278580G>A	BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.635C>T	X.37:g.100278580G>A	ENSP00000362027:p.Ser212Phe					TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000545398.1_Missense_Mutation_p.S212F|TRMT2B_ENST00000372939.1_Missense_Mutation_p.S167F|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S212F|TRMT2B_ENST00000372935.1_Missense_Mutation_p.S212F|TRMT2B_ENST00000372936.3_Missense_Mutation_p.S212F	p.S167F			Q96GJ1	TRM2_HUMAN			7	1305	-			212					A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	ENST00000372936.3	37	c.500C>T	CCDS14477.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421559	0.62622	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T;T;T	0.52983	0.72;0.64;0.72;0.64;0.64;0.64	4.69	1.75	0.24633	.	0.000000	0.85682	D	0.000000	T	0.63977	0.2557	M	0.89414	3.03	0.58432	D	0.999991	D;P;D	0.89917	1.0;0.949;0.968	D;P;P	0.78314	0.991;0.714;0.644	T	0.65701	-0.6104	10	0.12103	T	0.63	-0.9453	6.395	0.21607	0.1884:0.1503:0.6613:0.0	.	167;212;212	Q96GJ1-3;F2Z384;Q96GJ1	.;.;TRM2_HUMAN	F	167;212;167;212;212;212	ENSP00000340970:S167F;ENSP00000438134:S212F;ENSP00000362030:S167F;ENSP00000362026:S212F;ENSP00000362027:S212F;ENSP00000362022:S212F	ENSP00000340970:S167F	S	-	2	0	TRMT2B	100165236	1.000000	0.71417	0.176000	0.23000	0.989000	0.77384	3.872000	0.56085	0.388000	0.25054	0.468000	0.43344	TCT		0.448	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		38	6	0	0	0	1	0	38	6				
SPINT1	6692	broad.mit.edu	37	15	41136875	41136875	+	Silent	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr15:41136875C>T	ENST00000344051.4	+	2	357	c.123C>T	c.(121-123)ccC>ccT	p.P41P	RP11-532F12.5_ENST00000568525.1_RNA|SPINT1_ENST00000431806.1_Silent_p.P41P|RP11-532F12.5_ENST00000564302.1_RNA|SPINT1_ENST00000562057.1_Silent_p.P41P|RP11-532F12.5_ENST00000568419.1_RNA|RP11-532F12.5_ENST00000565315.1_RNA			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	41					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CGCCCGCGCCCCCTGGGCTGC	0.746																																						ENST00000344051.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(121-123)ccC>ccT		serine peptidase inhibitor, Kunitz type 1							8.0	10.0	10.0					15																	41136875		2141	4213	6354	SO:0001819	synonymous_variant	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41136875C>T		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.123C>T	15.37:g.41136875C>T						SPINT1_ENST00000562057.1_Silent_p.P41P|SPINT1_ENST00000431806.1_Silent_p.P41P	p.P41P			O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	2	357	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	41					Q7Z7D2	Silent	SNP	ENST00000344051.4	37	c.123C>T	CCDS10067.1																																																																																				0.746	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		5	0	0	0	0	1	0	5	0				
DENND3	22898	broad.mit.edu	37	8	142185466	142185466	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr8:142185466G>A	ENST00000262585.2	+	14	2481	c.2203G>A	c.(2203-2205)Gtt>Att	p.V735I	DENND3_ENST00000424248.1_Missense_Mutation_p.V683I|DENND3_ENST00000519811.1_Missense_Mutation_p.V815I	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	735					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AAACCTAGGCGTTGGCAAGAT	0.522											OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(2443-2445)Gtt>Att		DENN/MADD domain containing 3							136.0	119.0	125.0					8																	142185466		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142185466G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2203G>A	8.37:g.142185466G>A	ENSP00000262585:p.Val735Ile		OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1669	DENND3_ENST00000262585.2_Missense_Mutation_p.V735I|DENND3_ENST00000424248.1_Missense_Mutation_p.V683I	p.V815I			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		14	2513	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		735					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.2443G>A	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.50|16.50	3.140265|3.140265	0.56936|0.56936	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000262585;ENST00000424248;ENST00000519811	.|T;T;T	.|0.16743	.|2.79;2.32;2.77	4.94|4.94	4.0|4.0	0.46444|0.46444	.|.	.|0.057552	.|0.64402	.|D	.|0.000002	T|T	0.30324|0.30324	0.0761|0.0761	L|L	0.58669|0.58669	1.825|1.825	0.48830|0.48830	D|D	0.99971|0.99971	.|D;D;D	.|0.76494	.|0.994;0.996;0.999	.|P;P;P	.|0.54664	.|0.646;0.754;0.758	T|T	0.07635|0.07635	-1.0762|-1.0762	5|10	.|0.72032	.|D	.|0.01	-5.9905|-5.9905	14.6846|14.6846	0.69040|0.69040	0.0:0.1457:0.8543:0.0|0.0:0.1457:0.8543:0.0	.|.	.|815;683;735	.|E9PF32;A2RUS2-2;A2RUS2	.|.;.;DEND3_HUMAN	H|I	739|735;683;815	.|ENSP00000262585:V735I;ENSP00000410594:V683I;ENSP00000428714:V815I	.|ENSP00000262585:V735I	R|V	+|+	2|1	0|0	DENND3|DENND3	142254648|142254648	1.000000|1.000000	0.71417|0.71417	0.787000|0.787000	0.31911|0.31911	0.222000|0.222000	0.24845|0.24845	7.248000|7.248000	0.78268|0.78268	2.289000|2.289000	0.77006|0.77006	0.491000|0.491000	0.48974|0.48974	CGT|GTT		0.522	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		5	68	0	0	0	1	0	5	68				
CSHL1	1444	broad.mit.edu	37	17	61987352	61987352	+	Intron	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr17:61987352C>T	ENST00000309894.5	-	5	471				CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000561003.1_Missense_Mutation_p.G131E|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000450719.3_Missense_Mutation_p.G120E	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1							extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						TCCTCCTTCCCCTTCAGGGTG	0.527																																						ENST00000450719.3																			0				endometrium(3)|lung(6)	9						c.(358-360)gGg>gAg		chorionic somatomammotropin hormone-like 1																																				SO:0001627	intron_variant	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61987352C>T	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.472-84G>A	17.37:g.61987352C>T						CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Missense_Mutation_p.G131E|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000309894.5_Intron	p.G120E			Q14406	CSHL_HUMAN			3	596	-			0					D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	ENST00000309894.5	37	c.359G>A	CCDS11652.1	.	.	.	.	.	.	.	.	.	.	c	7.158	0.585158	0.13749	.	.	ENSG00000204414	ENST00000450719	.	.	.	2.18	-2.98	0.05513	.	.	.	.	.	T	0.25121	0.0610	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30090	-0.9990	5	0.46703	T	0.11	.	2.3143	0.04195	0.4029:0.2772:0.0:0.3199	.	.	.	.	E	209	.	ENSP00000413501:G209E	G	-	2	0	GH1	59341084	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.097000	0.15168	-0.710000	0.05001	0.305000	0.20034	GGG		0.527	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		20	63	0	0	0	1	0	20	63				
PIK3R1	5295	broad.mit.edu	37	5	67591097	67591097	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr5:67591097A>G	ENST00000521381.1	+	13	2306	c.1690A>G	c.(1690-1692)Aac>Gac	p.N564D	PIK3R1_ENST00000336483.5_Missense_Mutation_p.N294D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.N264D|PIK3R1_ENST00000523872.1_Missense_Mutation_p.N201D|PIK3R1_ENST00000396611.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000521657.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000274335.5_Missense_Mutation_p.N564D	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	564					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CAAACGTATGAACAGCATTAA	0.373			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		7	Substitution - Missense(4)|Whole gene deletion(1)|Deletion - In frame(1)|Unknown(1)	p.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(1)	large_intestine(3)|central_nervous_system(2)|lung(1)|endometrium(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1690-1692)Aac>Gac		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						146.0	145.0	146.0					5																	67591097		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591097A>G	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1690A>G	5.37:g.67591097A>G	ENSP00000428056:p.Asn564Asp	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000336483.5_Missense_Mutation_p.N294D|PIK3R1_ENST00000274335.5_Missense_Mutation_p.N564D|PIK3R1_ENST00000521657.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000523872.1_Missense_Mutation_p.N201D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.N264D|PIK3R1_ENST00000396611.1_Missense_Mutation_p.N564D	p.N564D	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2306	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	564					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1690A>G	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694508	0.88830	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	M	0.84846	2.72	0.80722	D	1	B;B;B;P	0.50272	0.162;0.107;0.082;0.933	B;B;B;P	0.53450	0.202;0.352;0.236;0.726	T	0.61535	-0.7043	10	0.66056	D	0.02	-28.8288	14.3587	0.66754	1.0:0.0:0.0:0.0	.	234;294;264;564	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	D	564;564;564;564;264;294;201	ENSP00000428056:N564D;ENSP00000429277:N564D;ENSP00000379855:N564D;ENSP00000274335:N564D;ENSP00000323512:N264D;ENSP00000338554:N294D;ENSP00000430098:N201D	ENSP00000274335:N564D	N	+	1	0	PIK3R1	67626853	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.087000	0.94110	2.036000	0.60181	0.377000	0.23210	AAC		0.373	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		39	54	0	0	0	1	0	39	54				
SAGE1	55511	broad.mit.edu	37	X	134991047	134991047	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chrX:134991047G>A	ENST00000370709.3	+	12	1466	c.1466G>A	c.(1465-1467)cGt>cAt	p.R489H	SAGE1_ENST00000324447.3_Missense_Mutation_p.R489H|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000535938.1_Missense_Mutation_p.R489H			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	489						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CACAGTGTTCGTGAAGAGAAG	0.463													g|||	1	0.000264901	0.0	0.0014	3775	,	,		16115	0.0		0.0	False		,,,				2504	0.0					ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1465-1467)cGt>cAt		sarcoma antigen 1							176.0	129.0	145.0					X																	134991047		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134991047G>A	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1466G>A	X.37:g.134991047G>A	ENSP00000359743:p.Arg489His					SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Missense_Mutation_p.R489H|SAGE1_ENST00000370709.3_Missense_Mutation_p.R489H	p.R489H	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			13	1633	+	Acute lymphoblastic leukemia(192;0.000127)		489					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.1466G>A	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536330	0.27475	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.36699	1.24;1.24;1.24	1.2	-1.2	0.09554	.	0.082064	0.50627	U	0.000102	T	0.13543	0.0328	N	0.04880	-0.145	0.09310	N	1	P	0.41008	0.735	B	0.40444	0.329	T	0.17167	-1.0378	10	0.30078	T	0.28	.	3.1279	0.06413	0.699:0.0:0.301:0.0	.	489	Q9NXZ1	SAGE1_HUMAN	H	489	ENSP00000323191:R489H;ENSP00000445959:R489H;ENSP00000359743:R489H	ENSP00000323191:R489H	R	+	2	0	SAGE1	134818713	0.087000	0.21565	0.009000	0.14445	0.007000	0.05969	0.090000	0.15025	-0.106000	0.12110	-0.790000	0.03334	CGT		0.463	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		49	3	0	0	0	1	0	49	3				
PIK3CD	5293	broad.mit.edu	37	1	9780177	9780177	+	Missense_Mutation	SNP	G	G	T	rs376093013		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:9780177G>T	ENST00000377346.4	+	11	1542	c.1347G>T	c.(1345-1347)aaG>aaT	p.K449N	PIK3CD_ENST00000361110.2_Missense_Mutation_p.K414N|PIK3CD_ENST00000543390.1_Missense_Mutation_p.K116N|PIK3CD_ENST00000536656.1_Missense_Mutation_p.K414N	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	449	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CAGATGAGAAGGGCGAGCTGC	0.657																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1240-1242)aaG>aaT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							64.0	64.0	64.0					1																	9780177		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9780177G>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1347G>T	1.37:g.9780177G>T	ENSP00000366563:p.Lys449Asn					PIK3CD_ENST00000543390.1_Missense_Mutation_p.K116N|PIK3CD_ENST00000377346.4_Missense_Mutation_p.K449N|PIK3CD_ENST00000361110.2_Missense_Mutation_p.K414N	p.K414N			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	11	1450	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	449					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.1242G>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	9.812	1.183365	0.21870	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.54	-6.35	0.01975	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.445255	0.27270	N	0.020129	T	0.65943	0.2740	N	0.24115	0.695	0.46901	D	0.999248	B;P;P	0.45531	0.009;0.86;0.853	B;P;P	0.53102	0.017;0.653;0.718	T	0.68221	-0.5466	10	0.17369	T	0.5	-19.5526	10.3866	0.44143	0.3963:0.0:0.5031:0.1006	.	449;414;449	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	N	414;449;414;414;116	ENSP00000446444:K414N;ENSP00000366563:K449N;ENSP00000354410:K414N;ENSP00000443811:K116N	ENSP00000353766:K414N	K	+	3	2	PIK3CD	9702764	0.268000	0.24133	0.836000	0.33094	0.573000	0.36030	-0.126000	0.10563	-0.862000	0.04089	-0.672000	0.03802	AAG		0.657	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		27	4	1	0	1.03073e-24	1	1.1121e-24	27	4				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	51	0	0	0	1	0	4	51				
PCLO	27445	broad.mit.edu	37	7	82784068	82784068	+	Missense_Mutation	SNP	G	G	A	rs201668310	byFrequency	TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr7:82784068G>A	ENST00000333891.9	-	2	2226	c.1889C>T	c.(1888-1890)aCg>aTg	p.T630M	PCLO_ENST00000423517.2_Missense_Mutation_p.T630M	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTACCTCCGTTAAATGAGG	0.383													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20103	0.0		0.001	False		,,,				2504	0.0					ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1888-1890)aCg>aTg		piccolo presynaptic cytomatrix protein		G	MET/THR,MET/THR	1,3789		0,1,1894	81.0	77.0	78.0		1889,1889	4.7	0.5	7		78	0,8256		0,0,4128	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	81,81	0,1,6022	AA,AG,GG		0.0,0.0264,0.0083	probably-damaging,probably-damaging	630/4936,630/5143	82784068	1,12045	1895	4128	6023	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784068G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1889C>T	7.37:g.82784068G>A	ENSP00000334319:p.Thr630Met					PCLO_ENST00000333891.8_Missense_Mutation_p.T630M	p.T630M	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			2	2226	-			576			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1889C>T	CCDS47630.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.032	-1.325518	0.01309	2.64E-4	0.0	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.77489	-1.1;-1.1	5.6	4.72	0.59763	.	.	.	.	.	D	0.87014	0.6072	M	0.65975	2.015	0.20563	N	0.999889	D;D	0.89917	1.0;1.0	D;D	0.67725	0.909;0.953	T	0.81042	-0.1112	9	0.87932	D	0	.	17.632	0.88112	0.0654:0.0:0.9346:0.0	.	630;630	Q9Y6V0-5;Q9Y6V0-6	.;.	M	576;630;630	ENSP00000334319:T630M;ENSP00000388393:T630M	ENSP00000334319:T630M	T	-	2	0	PCLO	82622004	0.998000	0.40836	0.506000	0.27664	0.121000	0.20230	2.670000	0.46833	0.746000	0.32786	-0.813000	0.03139	ACG		0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		25	21	0	0	0	1	0	25	21				
TRIM43	129868	broad.mit.edu	37	2	96260159	96260159	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:96260159G>A	ENST00000272395.2	+	2	524	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	130						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						CCATCCCATCGAAGAGGCAGC	0.488																																						ENST00000272395.2																			0				breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						c.(388-390)Gaa>Aaa		tripartite motif containing 43							56.0	57.0	56.0					2																	96260159		2201	4298	6499	SO:0001583	missense	129868					intracellular	zinc ion binding	g.chr2:96260159G>A	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.388G>A	2.37:g.96260159G>A	ENSP00000272395:p.Glu130Lys						p.E130K	NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN			2	524	+			130					Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	c.388G>A	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	12.41	1.930358	0.34096	.	.	ENSG00000144015	ENST00000272395	T	0.58210	0.35	1.4	0.472	0.16758	.	.	.	.	.	T	0.42200	0.1192	L	0.55213	1.73	0.09310	N	1	P	0.52692	0.955	B	0.40534	0.332	T	0.30446	-0.9978	9	0.49607	T	0.09	-2.1116	5.778	0.18289	0.2001:0.0:0.7999:0.0	.	130	Q96BQ3	TRI43_HUMAN	K	130	ENSP00000272395:E130K	ENSP00000272395:E130K	E	+	1	0	TRIM43	95623886	0.183000	0.23186	0.005000	0.12908	0.167000	0.22549	0.645000	0.24782	0.174000	0.19809	0.375000	0.23000	GAA		0.488	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		16	75	0	0	0	1	0	16	75				
FRMD4A	55691	broad.mit.edu	37	10	13825001	13825001	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr10:13825001T>C	ENST00000357447.2	-	6	673	c.305A>G	c.(304-306)tAt>tGt	p.Y102C	FRMD4A_ENST00000378503.1_Missense_Mutation_p.Y102C|FRMD4A_ENST00000342409.2_Missense_Mutation_p.Y118C|FRMD4A_ENST00000358621.4_Missense_Mutation_p.Y87C	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	102	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCTTTCTATATAGAACCTGAA	0.423																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(304-306)tAt>tGt		FERM domain containing 4A							115.0	115.0	115.0					10																	13825001		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13825001T>C	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.305A>G	10.37:g.13825001T>C	ENSP00000350032:p.Tyr102Cys					FRMD4A_ENST00000342409.2_Missense_Mutation_p.Y118C|FRMD4A_ENST00000358621.4_Missense_Mutation_p.Y87C|FRMD4A_ENST00000378503.1_Missense_Mutation_p.Y102C	p.Y102C	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			6	673	-			102			FERM.		A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.305A>G	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.506264	0.64410	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	5.29	5.29	0.74685	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94686	0.8286	H	0.95917	3.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.997;0.999	D	0.96150	0.9107	10	0.87932	D	0	-14.998	14.2159	0.65792	0.0:0.0:0.0:1.0	.	118;135;102	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	C	87;102;102;135;118	ENSP00000351438:Y87C;ENSP00000350032:Y102C;ENSP00000367764:Y102C;ENSP00000264546:Y135C;ENSP00000344237:Y118C	ENSP00000264546:Y135C	Y	-	2	0	FRMD4A	13865007	1.000000	0.71417	0.991000	0.47740	0.530000	0.34684	7.494000	0.81503	2.012000	0.59069	0.460000	0.39030	TAT		0.423	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		3	103	0	0	0	1	0	3	103				
TGM2	7052	broad.mit.edu	37	20	36768010	36768010	+	Silent	SNP	G	G	A	rs541717032		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr20:36768010G>A	ENST00000361475.2	-	9	1319	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	TGM2_ENST00000536724.1_Silent_p.G322G|TGM2_ENST00000536701.1_Silent_p.G301G	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	382					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.G382G(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TGCTCAGGTCGCCCTCCTTGA	0.587																																						ENST00000361475.2																			1	Substitution - coding silent(1)	p.G382G(1)	lung(1)	endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1144-1146)ggC>ggT		transglutaminase 2	L-Glutamine(DB00130)						99.0	72.0	81.0					20																	36768010		2203	4300	6503	SO:0001819	synonymous_variant	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36768010G>A	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1146C>T	20.37:g.36768010G>A						TGM2_ENST00000536701.1_Silent_p.G301G|TGM2_ENST00000536724.1_Silent_p.G322G	p.G382G	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN			9	1319	-		Myeloproliferative disorder(115;0.00878)	382					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	ENST00000361475.2	37	c.1146C>T	CCDS13302.1																																																																																				0.587	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		25	17	0	0	0	1	0	25	17				
SEC31B	25956	broad.mit.edu	37	10	102258994	102258994	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr10:102258994C>G	ENST00000370345.3	-	13	1604	c.1507G>C	c.(1507-1509)Gac>Cac	p.D503H	SEC31B_ENST00000494350.1_5'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	503					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGCCCCACGTCACTCTTCAAC	0.517																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(1507-1509)Gac>Cac		SEC31 homolog B (S. cerevisiae)							112.0	82.0	92.0					10																	102258994		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102258994C>G	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1507G>C	10.37:g.102258994C>G	ENSP00000359370:p.Asp503His					SEC31B_ENST00000494350.1_5'UTR	p.D503H	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	13	1604	-		Colorectal(252;0.117)	503					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.1507G>C	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363348	0.41902	.	.	ENSG00000075826	ENST00000370345	T	0.54071	0.59	4.89	3.02	0.34903	.	0.366291	0.34386	N	0.004018	T	0.54854	0.1884	L	0.60455	1.87	0.24662	N	0.993464	P;B	0.37207	0.587;0.452	P;B	0.46718	0.525;0.326	T	0.48958	-0.8988	10	0.48119	T	0.1	-5.1551	8.7585	0.34661	0.0:0.8211:0.0:0.1789	.	502;503	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	H	503	ENSP00000359370:D503H	ENSP00000359370:D503H	D	-	1	0	SEC31B	102248984	0.053000	0.20554	0.547000	0.28179	0.964000	0.63967	0.560000	0.23500	0.662000	0.31006	0.555000	0.69702	GAC		0.517	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		3	19	0	0	0	1	0	3	19				
DGKE	8526	broad.mit.edu	37	17	54933942	54933942	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr17:54933942C>T	ENST00000284061.3	+	8	1348	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	390					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TCATGCTCATCGTGAGAAGGC	0.378																																						ENST00000284061.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(1168-1170)Cgt>Tgt		diacylglycerol kinase, epsilon 64kDa							150.0	129.0	136.0					17																	54933942		2203	4300	6503	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54933942C>T	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1168C>T	17.37:g.54933942C>T	ENSP00000284061:p.Arg390Cys						p.R390C	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN			8	1348	+	Breast(9;3.59e-07)		390					Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.1168C>T	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504671	0.85176	.	.	ENSG00000153933	ENST00000284061	T	0.69806	-0.43	5.69	5.69	0.88448	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	D	0.88847	0.6548	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92007	0.5615	10	0.87932	D	0	.	19.8959	0.96958	0.0:1.0:0.0:0.0	.	390;390	A1L4Q0;P52429	.;DGKE_HUMAN	C	390	ENSP00000284061:R390C	ENSP00000284061:R390C	R	+	1	0	DGKE	52288941	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.357000	0.66058	2.695000	0.91970	0.632000	0.83419	CGT		0.378	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		11	77	0	0	0	1	0	11	77				
FER1L6	654463	broad.mit.edu	37	8	125061980	125061980	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr8:125061980G>C	ENST00000522917.1	+	22	3063	c.2857G>C	c.(2857-2859)Gta>Cta	p.V953L	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.V953L|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	953						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTCCTTGCTGTATTTGAACT	0.512																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2857-2859)Gta>Cta		fer-1-like 6 (C. elegans)							113.0	113.0	113.0					8																	125061980		1979	4176	6155	SO:0001583	missense	654463					integral to membrane		g.chr8:125061980G>C	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2857G>C	8.37:g.125061980G>C	ENSP00000428280:p.Val953Leu					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.V953L|FER1L6-AS2_ENST00000601180.1_RNA	p.V953L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		22	3063	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		953						Missense_Mutation	SNP	ENST00000522917.1	37	c.2857G>C	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.146916	0.37923	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.80909	-1.43;-1.43	5.91	5.03	0.67393	C2 calcium/lipid-binding domain, CaLB (1);	0.072231	0.52532	U	0.000066	T	0.67031	0.2850	N	0.19112	0.55	0.36025	D	0.838982	P	0.35328	0.495	B	0.27887	0.084	T	0.73717	-0.3895	10	0.46703	T	0.11	.	14.9025	0.70689	0.0691:0.0:0.9309:0.0	.	953	Q2WGJ9	FR1L6_HUMAN	L	953	ENSP00000428280:V953L;ENSP00000381982:V953L	ENSP00000381982:V953L	V	+	1	0	FER1L6	125131161	1.000000	0.71417	0.586000	0.28679	0.344000	0.29017	4.834000	0.62774	1.502000	0.48669	-0.150000	0.13652	GTA		0.512	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		18	89	0	0	0	1	0	18	89				
GABRA2	2555	broad.mit.edu	37	4	46263984	46263984	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr4:46263984T>C	ENST00000510861.1	-	9	1191	c.1018A>G	c.(1018-1020)Aga>Gga	p.R340G	GABRA2_ENST00000507069.1_Missense_Mutation_p.R340G|GABRA2_ENST00000515082.1_Missense_Mutation_p.R340G|GABRA2_ENST00000381620.4_Missense_Mutation_p.R340G|GABRA2_ENST00000356504.1_Missense_Mutation_p.R340G|GABRA2_ENST00000540012.1_Missense_Mutation_p.R285G|GABRA2_ENST00000514090.1_Missense_Mutation_p.R340G			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	340					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GCCCATCCTCTTTTGGTGAAG	0.393																																						ENST00000510861.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(1018-1020)Aga>Gga		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						115.0	108.0	111.0					4																	46263984		2203	4300	6503	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46263984T>C		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1018A>G	4.37:g.46263984T>C	ENSP00000421828:p.Arg340Gly					GABRA2_ENST00000515082.1_Missense_Mutation_p.R340G|GABRA2_ENST00000381620.4_Missense_Mutation_p.R340G|GABRA2_ENST00000356504.1_Missense_Mutation_p.R340G|GABRA2_ENST00000507069.1_Missense_Mutation_p.R340G|GABRA2_ENST00000514090.1_Missense_Mutation_p.R340G|GABRA2_ENST00000540012.1_Missense_Mutation_p.R285G	p.R340G			P47869	GBRA2_HUMAN			9	1191	-			340					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.1018A>G	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.882363	0.72294	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	D;D;D;D;D;T;D	0.86694	-2.16;-2.16;-2.16;-2.16;-1.87;-0.91;-1.87	5.35	4.08	0.47627	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90693	0.7080	L	0.55213	1.73	0.58432	D	0.999999	D;P;D	0.89917	0.993;0.951;1.0	D;P;D	0.91635	0.98;0.864;0.999	D	0.91034	0.4866	10	0.72032	D	0.01	.	11.3496	0.49579	0.0:0.0:0.2222:0.7778	.	285;340;340	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	G	340;340;340;340;285;340;340	ENSP00000421828:R340G;ENSP00000421300:R340G;ENSP00000371033:R340G;ENSP00000348897:R340G;ENSP00000444409:R285G;ENSP00000427603:R340G;ENSP00000423840:R340G	ENSP00000348897:R340G	R	-	1	2	GABRA2	45958741	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	1.491000	0.35583	2.161000	0.67846	0.482000	0.46254	AGA		0.393	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			20	49	0	0	0	1	0	20	49				
PTPN21	11099	broad.mit.edu	37	14	89016730	89016730	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr14:89016730C>T	ENST00000556564.1	-	2	316	c.32G>A	c.(31-33)cGc>cAc	p.R11H	RP11-507K2.3_ENST00000556328.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.R11H|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	11					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCGCCGGGTGCGTTTCAGTTT	0.537																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(31-33)cGc>cAc		protein tyrosine phosphatase, non-receptor type 21							101.0	99.0	100.0					14																	89016730		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:89016730C>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.32G>A	14.37:g.89016730C>T	ENSP00000452414:p.Arg11His					PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Missense_Mutation_p.R11H	p.R11H	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			2	316	-			11						Missense_Mutation	SNP	ENST00000556564.1	37	c.32G>A	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672935	0.88445	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;D	0.84070	-1.24;-1.24;-1.8	5.4	4.52	0.55395	.	0.065737	0.64402	D	0.000013	D	0.87386	0.6164	L	0.43152	1.355	0.41808	D	0.989954	D;D	0.89917	1.0;1.0	D;D	0.80764	0.988;0.994	D	0.88689	0.3207	10	0.87932	D	0	.	14.1431	0.65331	0.0:0.9275:0.0:0.0725	.	11;11	G3V3S6;Q16825	.;PTN21_HUMAN	H	11	ENSP00000330276:R11H;ENSP00000452414:R11H;ENSP00000451401:R11H	ENSP00000330276:R11H	R	-	2	0	PTPN21	88086483	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.589000	0.82641	1.282000	0.44496	-0.258000	0.10820	CGC		0.537	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			14	29	0	0	0	1	0	14	29				
EIF4G1	1981	broad.mit.edu	37	3	184046467	184046467	+	Silent	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:184046467C>T	ENST00000346169.2	+	27	4273	c.4002C>T	c.(4000-4002)ccC>ccT	p.P1334P	EIF4G1_ENST00000427845.1_Silent_p.P1248P|EIF4G1_ENST00000414031.1_Silent_p.P1294P|EIF4G1_ENST00000441154.1_Silent_p.P1171P|EIF4G1_ENST00000392537.2_Silent_p.P1247P|EIF4G1_ENST00000350481.5_Silent_p.P1170P|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000435046.2_Silent_p.P1138P|EIF4G1_ENST00000319274.6_Silent_p.P1334P|EIF4G1_ENST00000382330.3_Silent_p.P1341P|EIF4G1_ENST00000434061.2_Silent_p.P1139P|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Silent_p.P1341P|EIF4G1_ENST00000424196.1_Silent_p.P1341P|EIF4G1_ENST00000342981.4_Silent_p.P1335P|EIF4G1_ENST00000411531.1_Silent_p.P1295P	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1334	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGACATCCCCCACGTGTGGC	0.532																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(4003-4005)ccC>ccT		eukaryotic translation initiation factor 4 gamma, 1							157.0	157.0	157.0					3																	184046467		2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184046467C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4002C>T	3.37:g.184046467C>T						EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Silent_p.P1247P|EIF4G1_ENST00000346169.2_Silent_p.P1334P|EIF4G1_ENST00000441154.1_Silent_p.P1171P|EIF4G1_ENST00000435046.2_Silent_p.P1138P|EIF4G1_ENST00000427845.1_Silent_p.P1248P|EIF4G1_ENST00000414031.1_Silent_p.P1294P|EIF4G1_ENST00000382330.3_Silent_p.P1341P|EIF4G1_ENST00000350481.5_Silent_p.P1170P|EIF4G1_ENST00000352767.3_Silent_p.P1341P|EIF4G1_ENST00000434061.2_Silent_p.P1139P|EIF4G1_ENST00000319274.6_Silent_p.P1334P|EIF4G1_ENST00000424196.1_Silent_p.P1341P|EIF4G1_ENST00000411531.1_Silent_p.P1295P	p.P1335P	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		26	4419	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1334			MI.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.4005C>T	CCDS3259.1																																																																																				0.532	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		50	82	0	0	0	1	0	50	82				
GREB1	9687	broad.mit.edu	37	2	11738849	11738849	+	Silent	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:11738849G>A	ENST00000381486.2	+	15	2496	c.2196G>A	c.(2194-2196)aaG>aaA	p.K732K	GREB1_ENST00000234142.5_Silent_p.K732K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	732						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACATGACGAAGCAGAGGGTGG	0.453																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(2194-2196)aaG>aaA		growth regulation by estrogen in breast cancer 1							198.0	202.0	201.0					2																	11738849		1996	4180	6176	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11738849G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2196G>A	2.37:g.11738849G>A						GREB1_ENST00000234142.5_Silent_p.K732K	p.K732K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	15	2496	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		732					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.2196G>A	CCDS42655.1																																																																																				0.453	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		6	110	0	0	0	1	0	6	110				
PCDHB17	54661	broad.mit.edu	37	5	140536995	140536995	+	Silent	SNP	T	T	C	rs563100339	byFrequency	TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr5:140536995T>C	ENST00000539533.1	+	1	1419	c.1419T>C	c.(1417-1419)agT>agC	p.S473S						protocadherin beta 17 pseudogene																		ACATCGGCAGTGTCAGCGCCA	0.652													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16565	0.001		0.0	False		,,,				2504	0.0					ENST00000539533.1																			0											c.(1417-1419)agT>agC																																						SO:0001819	synonymous_variant	0							g.chr5:140536995T>C	AF152527		5q31	2010-01-26				ENSG00000255622		"""Cadherins / Protocadherins : Clustered"""	14547	pseudogene	pseudogene						10380929	Standard	NR_001280		Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.1419T>C	5.37:g.140536995T>C							p.S473S							1	1419	+									Silent	SNP	ENST00000539533.1	37	c.1419T>C																																																																																					0.652	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				4	76	0	0	0	1	0	4	76				
PRRX2	51450	broad.mit.edu	37	9	132482906	132482906	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr9:132482906G>A	ENST00000372469.4	+	3	706	c.479G>A	c.(478-480)cGc>cAc	p.R160H	RP11-483H20.6_ENST00000440413.1_RNA	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	160					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				GCCAAGTTCCGCAGGAATGAA	0.672																																						ENST00000372469.4																			0				lung(2)|pancreas(1)	3						c.(478-480)cGc>cAc		paired related homeobox 2							56.0	63.0	61.0					9																	132482906		2203	4300	6503	SO:0001583	missense	51450					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:132482906G>A	AF061970	CCDS6926.1	9q34.11	2011-06-20			ENSG00000167157	ENSG00000167157		"""Homeoboxes / PRD class"""	21338	protein-coding gene	gene with protein product		604675				11063257	Standard	NM_016307		Approved	PRX2, PMX2	uc004byh.3	Q99811	OTTHUMG00000020790	ENST00000372469.4:c.479G>A	9.37:g.132482906G>A	ENSP00000361547:p.Arg160His						p.R160H	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN			3	706	+		Ovarian(14;0.00556)	160					Q5SZB5|Q9UIB3	Missense_Mutation	SNP	ENST00000372469.4	37	c.479G>A	CCDS6926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.292312|5.292312	0.95546|0.95546	.|.	.|.	ENSG00000167157|ENSG00000167157	ENST00000557730|ENST00000372469	.|D	.|0.97642	.|-4.47	4.89|4.89	4.89|4.89	0.63831|0.63831	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	.|0.117734	.|0.64402	.|D	.|0.000015	D|D	0.99257|0.99257	0.9741|0.9741	H|H	0.99368|0.99368	4.535|4.535	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.98397|0.98397	1.0566|1.0566	5|10	.|0.87932	.|D	.|0	.|.	17.5868|17.5868	0.87983|0.87983	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|160	.|Q99811	.|PRRX2_HUMAN	T|H	75|160	.|ENSP00000361547:R160H	.|ENSP00000361547:R160H	A|R	+|+	1|2	0|0	PRRX2|PRRX2	131522727|131522727	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	9.155000|9.155000	0.94700|0.94700	2.709000|2.709000	0.92574|0.92574	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.672	PRRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054598.2	NM_016307		17	43	0	0	0	1	0	17	43				
ZNF689	115509	broad.mit.edu	37	16	30616153	30616153	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:30616153G>A	ENST00000287461.3	-	3	1272	c.935C>T	c.(934-936)aCg>aTg	p.T312M	ZNF689_ENST00000566673.1_5'UTR|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	312					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			CTTCTCGCCCGTGTGGATGCG	0.672																																						ENST00000287461.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(934-936)aCg>aTg		zinc finger protein 689							56.0	41.0	46.0					16																	30616153		2197	4300	6497	SO:0001583	missense	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30616153G>A	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.935C>T	16.37:g.30616153G>A	ENSP00000287461:p.Thr312Met					RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	p.T312M	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		3	1272	-			312					Q658J5	Missense_Mutation	SNP	ENST00000287461.3	37	c.935C>T	CCDS10686.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.279768	0.80692	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.26373	1.74	5.18	5.18	0.71444	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.276421	0.26210	N	0.025697	T	0.59500	0.2198	M	0.90542	3.125	0.42906	D	0.994246	D	0.89917	1.0	D	0.91635	0.999	T	0.66964	-0.5790	10	0.72032	D	0.01	-10.9123	16.5866	0.84728	0.0:0.0:1.0:0.0	.	312	Q96CS4	ZN689_HUMAN	M	312	ENSP00000287461:T312M	ENSP00000287461:T312M	T	-	2	0	ZNF689	30523654	0.270000	0.24152	0.932000	0.37286	0.923000	0.55619	1.259000	0.32956	2.868000	0.98415	0.555000	0.69702	ACG		0.672	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		3	16	0	0	0	1	0	3	16				
LILRB1	10859	broad.mit.edu	37	19	55147060	55147060	+	Splice_Site	SNP	G	G	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr19:55147060G>A	ENST00000396331.1	+	14	2007	c.1650G>A	c.(1648-1650)cgG>cgA	p.R550R	LILRB1_ENST00000434867.2_Splice_Site_p.R550R|LILRB1_ENST00000396327.3_Splice_Site_p.R551R|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Splice_Site_p.R550R|LILRB1_ENST00000396315.1_Splice_Site_p.R551R|LILRB1_ENST00000418536.2_Splice_Site_p.R534R|LILRB1_ENST00000396317.1_Splice_Site_p.R534R|LILRB1_ENST00000324602.7_Splice_Site_p.R551R|LILRB1_ENST00000427581.2_Splice_Site_p.R600R|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396332.4_Splice_Site_p.R550R	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	550					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGGACACTCGGGTGAGACCCC	0.607										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.e14+1		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							99.0	107.0	104.0					19																	55147060		2203	4300	6503	SO:0001630	splice_region_variant	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55147060G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1650+1G>A	19.37:g.55147060G>A		HNSCC(37;0.09)				LILRB1_ENST00000396317.1_Splice_Site_p.R534_splice|LILRB1_ENST00000427581.2_Splice_Site_p.R600_splice|LILRB1_ENST00000324602.7_Splice_Site_p.R551_splice|LILRB1_ENST00000396321.2_Splice_Site_p.R550_splice|LILRB1_ENST00000434867.2_Splice_Site_p.R550_splice|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396315.1_Splice_Site_p.R551_splice|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Splice_Site_p.R550_splice|LILRB1_ENST00000396327.3_Splice_Site_p.R551_splice|LILRB1_ENST00000418536.2_Splice_Site_p.R534_splice	p.R550_splice	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	14	2007	+			550					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Splice_Site	SNP	ENST00000396331.1	37	c.1650_splice	CCDS42617.1																																																																																				0.607	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		Silent	24	8	0	0	0	1	0	24	8				
MMP12	4321	broad.mit.edu	37	11	102743629	102743629	+	RNA	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr11:102743629C>T	ENST00000532855.1	-	0	412							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	CATACGGGCCCCCCTGGCATT	0.502																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)						53.0	52.0	52.0					11																	102743629		1882	4091	5973			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102743629C>T	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102743629C>T										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	412	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	ENST00000532855.1	37																																																																																						0.502	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		9	16	0	0	0	1	0	9	16				
EDC3	80153	broad.mit.edu	37	15	74964117	74964117	+	Splice_Site	SNP	T	T	A			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr15:74964117T>A	ENST00000315127.4	-	3	346		c.e3-2		EDC3_ENST00000426797.3_Splice_Site|EDC3_ENST00000568176.1_Splice_Site	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)	p.?(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TCACCTGCCCTGAAATACACA	0.408																																						ENST00000315127.4																			1	Unknown(1)	p.?(1)	ovary(1)	breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.e3-2		enhancer of mRNA decapping 3							55.0	60.0	58.0					15																	74964117		2197	4296	6493	SO:0001630	splice_region_variant	80153				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr15:74964117T>A	BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"""yjeF domain containing (E.coli)"", ""LSM16 homolog (EDC3, S. cerevisiae)"", ""enhancer of mRNA decapping 3 homolog (S. cerevisiae)"""	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.165-2A>T	15.37:g.74964117T>A						EDC3_ENST00000568176.1_Splice_Site|EDC3_ENST00000426797.3_Splice_Site		NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN			3	346	-								B3KPH0|D3DW61|Q9H797	Splice_Site	SNP	ENST00000315127.4	37		CCDS10267.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532747	0.64972	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	.	.	.	5.53	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4156	0.44320	0.0:0.0762:0.0:0.9238	.	.	.	.	.	-1	.	.	.	-	.	.	EDC3	72751170	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.667000	0.74451	0.934000	0.37316	0.528000	0.53228	.		0.408	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286399.1	NM_025083	Intron	46	5	0	0	0	1	0	46	5				
ZBTB20	26137	broad.mit.edu	37	3	114058240	114058240	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:114058240C>T	ENST00000474710.1	-	5	2016	c.1838G>A	c.(1837-1839)cGc>cAc	p.R613H	ZBTB20_ENST00000471418.1_Missense_Mutation_p.R540H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R540H|ZBTB20_ENST00000462705.1_Missense_Mutation_p.R540H|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R540H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R540H|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R540H	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	613						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 negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGAGAAGGAGCGCCAACAGAT	0.498																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1618-1620)cGc>cAc		zinc finger and BTB domain containing 20							115.0	100.0	105.0					3																	114058240		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058240C>T	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1838G>A	3.37:g.114058240C>T	ENSP00000419153:p.Arg613His					ZBTB20_ENST00000357258.3_Missense_Mutation_p.R540H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R540H|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R540H|ZBTB20_ENST00000474710.1_Missense_Mutation_p.R613H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R540H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R540H	p.R540H	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2440	-			613					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1619G>A	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436280	0.62955	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.03920	3.76;3.76;3.76;3.76;3.76;3.76;3.76	6.02	6.02	0.97574	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.00021	-1.2343	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	613	Q9HC78	ZBT20_HUMAN	H	540;540;540;540;613;540;540	ENSP00000420324:R540H;ENSP00000377375:R540H;ENSP00000418092:R540H;ENSP00000419902:R540H;ENSP00000419153:R613H;ENSP00000349803:R540H;ENSP00000417307:R540H	ENSP00000349803:R540H	R	-	2	0	ZBTB20	115540930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.865000	0.98341	0.655000	0.94253	CGC		0.498	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		27	31	0	0	0	1	0	27	31				
TMEM180	79847	broad.mit.edu	37	10	104228827	104228827	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr10:104228827C>G	ENST00000238936.4	+	3	278	c.41C>G	c.(40-42)cCc>cGc	p.P14R	TMEM180_ENST00000366277.2_5'UTR|TMEM180_ENST00000450947.2_3'UTR|TMEM180_ENST00000369931.3_Missense_Mutation_p.P14R	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	14						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTGGGTCTGCCCACAGCTGTG	0.617																																						ENST00000238936.4																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13						c.(40-42)cCc>cGc		transmembrane protein 180							83.0	67.0	73.0					10																	104228827		2203	4300	6503	SO:0001583	missense	79847					integral to membrane		g.chr10:104228827C>G	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.41C>G	10.37:g.104228827C>G	ENSP00000238936:p.Pro14Arg					TMEM180_ENST00000369931.3_Missense_Mutation_p.P14R|TMEM180_ENST00000450947.2_3'UTR|TMEM180_ENST00000366277.2_5'UTR	p.P14R	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	3	278	+		Colorectal(252;0.122)	14					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	ENST00000238936.4	37	c.41C>G	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867440	0.72065	.	.	ENSG00000138111	ENST00000447593;ENST00000238936;ENST00000369931	.	.	.	5.49	4.57	0.56435	Major facilitator superfamily domain, general substrate transporter (1);	0.209067	0.52532	D	0.000080	T	0.50069	0.1594	N	0.14661	0.345	0.80722	D	1	B;P;D	0.64830	0.003;0.681;0.994	B;B;P	0.59221	0.004;0.425;0.854	T	0.43750	-0.9372	9	0.15952	T	0.53	.	16.2515	0.82490	0.0:0.867:0.133:0.0	.	14;14;14	B4DWN6;Q14CX5;Q6UWF4	.;TM180_HUMAN;.	R	14	.	ENSP00000238936:P14R	P	+	2	0	TMEM180	104218817	1.000000	0.71417	0.635000	0.29338	0.418000	0.31294	4.751000	0.62169	1.308000	0.44962	0.478000	0.44815	CCC		0.617	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		15	20	0	0	0	1	0	15	20				
SMARCAD1	56916	broad.mit.edu	37	4	95147295	95147295	+	Silent	SNP	A	A	G			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr4:95147295A>G	ENST00000354268.4	+	3	289	c.216A>G	c.(214-216)ccA>ccG	p.P72P	SMARCAD1_ENST00000457823.2_Silent_p.P72P			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	72					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CAGAAACTCCAGATAATGAAA	0.313																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(214-216)ccA>ccG		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							54.0	57.0	56.0					4																	95147295		2201	4295	6496	SO:0001819	synonymous_variant	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95147295A>G	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.216A>G	4.37:g.95147295A>G						SMARCAD1_ENST00000457823.2_Silent_p.P72P	p.P72P			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	3	289	+			72					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Silent	SNP	ENST00000354268.4	37	c.216A>G	CCDS3639.1																																																																																				0.313	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		26	44	0	0	0	1	0	26	44				
MIS18BP1	55320	broad.mit.edu	37	14	45702022	45702022	+	Splice_Site	SNP	T	T	C			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr14:45702022T>C	ENST00000310806.4	-	7	1808	c.1350A>G	c.(1348-1350)ggA>ggG	p.G450G		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	450					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						AATTTGGATATCCTATTTAAG	0.259																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.e7-1		MIS18 binding protein 1							14.0	15.0	15.0					14																	45702022		2070	4034	6104	SO:0001630	splice_region_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45702022T>C	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.1349-1A>G	14.37:g.45702022T>C							p.G450_splice	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			7	1808	-			450					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Splice_Site	SNP	ENST00000310806.4	37	c.1348_splice	CCDS9684.1																																																																																				0.259	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2		Silent	7	18	0	0	0	1	0	7	18				
GFPT1	2673	broad.mit.edu	37	2	69601201	69601201	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:69601201C>T	ENST00000357308.4	-	2	230	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	GFPT1_ENST00000494201.1_5'UTR|GFPT1_ENST00000361060.5_Missense_Mutation_p.E18K	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	18	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TCCAGGATTTCTCGTCTCGTT	0.328																																						ENST00000357308.4																			0				endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						c.(52-54)Gaa>Aaa		glutamine--fructose-6-phosphate transaminase 1							92.0	91.0	92.0					2																	69601201		2203	4300	6503	SO:0001583	missense	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69601201C>T		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.52G>A	2.37:g.69601201C>T	ENSP00000349860:p.Glu18Lys					GFPT1_ENST00000494201.1_5'UTR|GFPT1_ENST00000361060.4_Missense_Mutation_p.E18K	p.E18K	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN			2	230	-			18			Glutamine amidotransferase type-2.		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	c.52G>A	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484780	0.84854	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.77098	-1.07;-1.07	5.02	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.78104	0.4231	L	0.60012	1.86	0.80722	D	1	P	0.48764	0.915	P	0.48334	0.574	T	0.79351	-0.1839	10	0.54805	T	0.06	-15.9183	12.2278	0.54470	0.0:0.9169:0.0:0.0831	.	18	Q06210-2	.	K	18	ENSP00000349860:E18K;ENSP00000354347:E18K	ENSP00000349860:E18K	E	-	1	0	GFPT1	69454705	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.489000	0.66875	1.340000	0.45581	0.655000	0.94253	GAA		0.328	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				27	98	0	0	0	1	0	27	98				
SRRM4	84530	broad.mit.edu	37	12	119588985	119588985	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr12:119588985C>T	ENST00000267260.4	+	10	1628	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	414	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CAGGGCTTCCCCCAGGTACAC	0.542																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(1240-1242)Ccc>Tcc		serine/arginine repetitive matrix 4							75.0	76.0	76.0					12																	119588985		1933	4123	6056	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119588985C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1240C>T	12.37:g.119588985C>T	ENSP00000267260:p.Pro414Ser						p.P414S	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			10	1628	+			414			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.1240C>T	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	7.277	0.608270	0.14002	.	.	ENSG00000139767	ENST00000267260	T	0.23754	1.89	5.58	4.69	0.59074	.	0.275715	0.35903	N	0.002906	T	0.25005	0.0607	L	0.53249	1.67	0.36797	D	0.885149	B	0.24426	0.103	B	0.20384	0.029	T	0.13019	-1.0525	9	.	.	.	-27.7767	13.3935	0.60836	0.0:0.9261:0.0:0.0739	.	414	A7MD48	SRRM4_HUMAN	S	414	ENSP00000267260:P414S	.	P	+	1	0	SRRM4	118073368	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	3.661000	0.54503	1.459000	0.47892	0.655000	0.94253	CCC		0.542	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		27	22	0	0	0	1	0	27	22				
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	TCT	-	rs587765256		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:145457040_145457042delTCT	ENST00000369314.1	-	7	625_627	c.519_521delAGA	c.(517-522)gaagag>gag	p.173_174EE>E	POLR3GL_ENST00000369313.3_In_Frame_Del_p.150_151EE>E	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	173	Glu-rich.				gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448																																						ENST00000369314.1																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(517-522)gag>ga		polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like																																				SO:0001651	inframe_deletion	84265							g.chr1:145457040_145457042delTCT	BC004355	CCDS72875.1	1q21.1	2008-02-05	2006-12-14		ENSG00000121851	ENSG00000121851			28466	protein-coding gene	gene with protein product			"""polymerase (RNA) III (DNA directed) polypeptide G (32kD) like"""			12477932	Standard	NM_032305		Approved	flj32422, MGC3200	uc001enp.1	Q9BT43	OTTHUMG00000013739	ENST00000369314.1:c.519_521delAGA	1.37:g.145457049_145457051delTCT	ENSP00000358320:p.Glu174del					POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del	p.EE173del	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN			7	625_627	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		173			Glu-rich.		B1MVG5	In_Frame_Del	DEL	ENST00000369314.1	37	c.519_521delAGA	CCDS914.1																																																																																				0.448	POLR3GL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038510.1	NM_032305		4	9						4	9	---	---	---	---
RP11-254I22.1	0	broad.mit.edu	37	5	95414786	95414787	+	lincRNA	INS	-	-	TAAAA	rs34328926|rs80243332|rs60523167|rs5869706	byFrequency	TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr5:95414786_95414787insTAAAA	ENST00000507997.1	+	0	87				MIR583_ENST00000384846.1_RNA|CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA																							acccatgcacttaaagttaaaa	0.361														2975	0.59405	0.7156	0.4813	5008	,	,		22499	0.495		0.6362	False		,,,				2504	0.5685					ENST00000507997.1																			0																	2353,1165		895,563,301						0.2	0.1		dbSNP_114	36	3841,2837		1367,1107,865	no	intergenic				2262,1670,1166	A1A1,A1R,RR		42.4828,33.1154,39.2507				6194,4002						0							g.chr5:95414786_95414787insTAAAA																													5.37:g.95414786_95414787insTAAAA						CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA								0	87	+									RNA	INS	ENST00000507997.1	37																																																																																						0.361	RP11-254I22.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000370578.1			4	6						4	6	---	---	---	---
AGO2	27161	broad.mit.edu	37	8	141557702	141557703	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr8:141557702_141557703delGT	ENST00000220592.5	-	13	1724_1725	c.1612_1613delAC	c.(1612-1614)acgfs	p.T538fs	AGO2_ENST00000519980.1_Frame_Shift_Del_p.T538fs	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	538	Interaction with guide RNA.|Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										CCCCAGCACCGTGTCTCCCACG	0.634																																						ENST00000220592.5																			0											c.(1612-1614)gfs		argonaute RISC catalytic component 2																																				SO:0001589	frameshift_variant	27161							g.chr8:141557702_141557703delGT	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1612_1613delAC	8.37:g.141557704_141557705delGT	ENSP00000220592:p.Thr538fs					AGO2_ENST00000519980.1_Frame_Shift_Del_p.T538fs	p.T538fs	NM_012154.3	NP_036286.2					13	1724_1725	-								Q8TCZ5|Q8WV58|Q96ID1	Frame_Shift_Del	DEL	ENST00000220592.5	37	c.1612_1613delAC	CCDS6380.1																																																																																				0.634	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			25	28						25	28	---	---	---	---
GDA	9615	broad.mit.edu	37	9	74764597	74764600	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr9:74764597_74764600delAAGT	ENST00000358399.3	+	1	215_216	c.122_123delAAGT	c.(121-123)aaa>a	p.K41fs	GDA_ENST00000545168.1_Intron|GDA_ENST00000238018.4_Splice_Site_p.K41fs|GDA_ENST00000376989.3_Splice_Site_p.K16fs|GDA_ENST00000376986.1_Splice_Site_p.S1fs	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	41					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GACAGCGGCAAAGTAAGCAGGCGC	0.686																																						ENST00000358399.3																			0				central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32						c.e1+1		guanine deaminase																																				SO:0001630	splice_region_variant	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74764597_74764600delAAGT	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.123+1AAGT>-	9.37:g.74764597_74764600delAAGT						GDA_ENST00000376989.3_Splice_Site_p.16_splice|GDA_ENST00000545168.1_Intron|GDA_ENST00000238018.4_Splice_Site_p.41_splice|GDA_ENST00000376986.1_Splice_Site	p.41_splice	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	1	215_216	+		Myeloproliferative disorder(762;0.0122)	41					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Splice_Site	DEL	ENST00000358399.3	37	c.123_splice	CCDS6641.1																																																																																				0.686	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1		Frame_Shift_Del	8	6						8	6	---	---	---	---
OR4A16	81327	broad.mit.edu	37	11	55111376	55111376	+	Frame_Shift_Del	DEL	G	G	-	rs368388243		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr11:55111376delG	ENST00000314721.2	+	1	750	c.700delG	c.(700-702)gccfs	p.A234fs		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GAGGCATAAAGCCCTGCCTAC	0.413																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(700-702)ccfs		olfactory receptor, family 4, subfamily A, member 16							168.0	156.0	160.0					11																	55111376		2201	4296	6497	SO:0001589	frameshift_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111376delG	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.700delG	11.37:g.55111376delG	ENSP00000325128:p.Ala234fs						p.A234fs	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	750	+			234					Q6IFL3	Frame_Shift_Del	DEL	ENST00000314721.2	37	c.700delG	CCDS31499.1																																																																																				0.413	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		21	66						21	66	---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41423022	41423025	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr12:41423022_41423025delGTAA	ENST00000551295.2	+	23	3097		c.e23+1		CNTN1_ENST00000347616.1_Splice_Site|CNTN1_ENST00000348761.2_Splice_Site	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAAATTTCAGGTAAGTGAGTCATT	0.456																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.e23+1		contactin 1																																				SO:0001630	splice_region_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41423022_41423025delGTAA	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2980+1GTAA>-	12.37:g.41423022_41423025delGTAA						CNTN1_ENST00000347616.1_Splice_Site|CNTN1_ENST00000348761.2_Splice_Site		NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			23	3097	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)						A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Splice_Site	DEL	ENST00000551295.2	37		CCDS8737.1																																																																																				0.456	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	Intron	53	35						53	35	---	---	---	---
LINC01566	283914	broad.mit.edu	37	16	34619315	34619315	+	lincRNA	DEL	G	G	-			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:34619315delG	ENST00000569242.1	+	0	1748					NR_027079.1																						TCACTGGAGTGGCAGGACGGG	0.483																																						ENST00000569242.1																			0																																																			0							g.chr16:34619315delG																													16.37:g.34619315delG								NR_027079.1						0	1748	+									RNA	DEL	ENST00000569242.1	37																																																																																						0.483	RP11-488I20.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000431678.1			2	4						2	4	---	---	---	---
NAE1	8883	broad.mit.edu	37	16	66851378	66851379	+	In_Frame_Ins	INS	-	-	ATG			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:66851378_66851379insATG	ENST00000290810.3	-	9	730_731	c.633_634insCAT	c.(631-636)catact>catCATact	p.211_212insH	NAE1_ENST00000564040.2_5'Flank|NAE1_ENST00000359087.4_In_Frame_Ins_p.214_215insH|NAE1_ENST00000394074.2_In_Frame_Ins_p.122_123insH|NAE1_ENST00000379463.2_In_Frame_Ins_p.205_206insH			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	211		Interaction with UBA3.			mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	ATCCATGGAGTATGACTGTGGT	0.287																																						ENST00000379463.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(613-618)cactcc>caCATctcc		NEDD8 activating enzyme E1 subunit 1	Adenosine triphosphate(DB00171)																																			SO:0001652	inframe_insertion	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66851378_66851379insATG	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.631_633dupCAT	16.37:g.66851379_66851381dupATG	ENSP00000290810:p.His211_His211dup					NAE1_ENST00000394074.2_In_Frame_Ins_p.122_123HS>HIS|NAE1_ENST00000359087.4_In_Frame_Ins_p.214_215HS>HIS|NAE1_ENST00000290810.3_In_Frame_Ins_p.211_212HS>HIS	p.205_206HS>HIS	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	10	807_808	-		Ovarian(137;0.0563)	211					A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	In_Frame_Ins	INS	ENST00000290810.3	37	c.615_616insCAT	CCDS10820.1																																																																																				0.287	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905		19	32						19	32	---	---	---	---
PLPPR3	79948	broad.mit.edu	37	19	813360	813362	+	In_Frame_Del	DEL	TCC	TCC	-	rs189344455		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr19:813360_813362delTCC	ENST00000520876.3	-	8	1443_1445	c.1365_1367delGGA	c.(1363-1368)gaggaa>gaa	p.455_456EE>E	LPPR3_ENST00000359894.2_In_Frame_Del_p.483_484EE>E|MIR3187_ENST00000583431.1_RNA	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		455	Glu-rich.					integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										ctcctcctcttcctcctcctcct	0.759																																						ENST00000359894.2																			0											c.(1447-1452)gaa>ga						10,2858		2,6,1426						-3.4	0.3			2	12,5844		3,6,2919	no	coding	LPPR3	NM_024888.1		5,12,4345	A1A1,A1R,RR		0.2049,0.3487,0.2522				22,8702				SO:0001651	inframe_deletion	0					integral to membrane	phosphatidate phosphatase activity	g.chr19:813360_813362delTCC																												ENST00000520876.3:c.1365_1367delGGA	19.37:g.813369_813371delTCC	ENSP00000430297:p.Glu459del					LPPR3_ENST00000520876.3_In_Frame_Del_p.EE457del	p.EE485del	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN			7	1512_1514	-			457					Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	In_Frame_Del	DEL	ENST00000520876.3	37	c.1449_1451delGGA	CCDS58636.1																																																																																				0.759	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			2	4						2	4	---	---	---	---
TLE2	7089	broad.mit.edu	37	19	3028803	3028803	+	Splice_Site	DEL	T	T	-			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr19:3028803delT	ENST00000262953.6	-	2	287		c.e2-2		TLE2_ENST00000591529.1_Splice_Site|TLE2_ENST00000443826.3_Splice_Site|TLE2_ENST00000426948.2_Splice_Site|TLE2_ENST00000590536.1_Splice_Site|TLE2_ENST00000455444.2_5'UTR|TLE2_ENST00000586422.1_5'Flank	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2						negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GAGCGGGGTCTGGGGGGGGTG	0.622																																						ENST00000262953.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.e2-2		transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)							40.0	50.0	47.0					19																	3028803		1794	4050	5844	SO:0001630	splice_region_variant	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3028803delT	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.25-2A>-	19.37:g.3028803delT						TLE2_ENST00000590536.1_Splice_Site|TLE2_ENST00000455444.2_5'UTR|TLE2_ENST00000426948.2_Splice_Site|TLE2_ENST00000443826.3_Splice_Site|TLE2_ENST00000591529.1_Splice_Site		NM_003260.4	NP_003251.2	Q04725	TLE2_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)	2	287	-								B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Splice_Site	DEL	ENST00000262953.6	37		CCDS45911.1																																																																																				0.622	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260	Intron	51	63						51	63	---	---	---	---
GOLGA2P9	440518	broad.mit.edu	37	19	22779215	22779215	+	RNA	DEL	G	G	-	rs113336402	byFrequency	TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr19:22779215delG	ENST00000600260.1	+	0	157					NR_033899.1																						CAGCAGCAAAGAAAAAGGTAC	0.612													?|G|-|unsure	594	0.11861	0.4297	0.0288	5008	,	,		12991	0.0		0.006	False		,,,				2504	0.0					ENST00000600260.1																			0																																																			0							g.chr19:22779215delG																													19.37:g.22779215delG								NR_033899.1						0	157	+									RNA	DEL	ENST00000600260.1	37																																																																																						0.612	CTC-457E21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464572.1			4	3						4	3	---	---	---	---
