#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
C5orf51	285636	broad.mit.edu	37	5	41904475	41904475	+	Silent	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr5:41904475G>C	ENST00000381647.2	+	1	25	c.6G>C	c.(4-6)gcG>gcC	p.A2A	C5orf51_ENST00000505931.2_Intron	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	2										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TGGCCATGGCGGCCGCAGTCT	0.662																																						ENST00000381647.2																			0				endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(4-6)gcG>gcC		chromosome 5 open reading frame 51							24.0	25.0	25.0					5																	41904475		2180	4267	6447	SO:0001819	synonymous_variant	285636							g.chr5:41904475G>C	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.6G>C	5.37:g.41904475G>C						C5orf51_ENST00000505931.2_Intron	p.A2A	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN			1	25	+			2					A2RRM9	Silent	SNP	ENST00000381647.2	37	c.6G>C	CCDS34151.1																																																																																				0.662	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921		14	21	0	0	0	1	0	14	21				
CAPN3	825	broad.mit.edu	37	15	42693949	42693949	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr15:42693949C>G	ENST00000397163.3	+	11	1684	c.1465C>G	c.(1465-1467)Cgg>Ggg	p.R489G	CAPN3_ENST00000397200.4_5'Flank|CAPN3_ENST00000349748.3_Missense_Mutation_p.R441G|CAPN3_ENST00000318023.7_Missense_Mutation_p.R489G|CAPN3_ENST00000357568.3_Missense_Mutation_p.R489G|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.R402G	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	489	Domain III.		R -> Q (in LGMD2A).|R -> W (in LGMD2A). {ECO:0000269|PubMed:9762961}.		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GCAGAAGAACCGGCGGAAGGA	0.572																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47	GRCh37	CM980303	CAPN3	M		c.(1465-1467)Cgg>Ggg		calpain 3, (p94)							77.0	65.0	69.0					15																	42693949		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42693949C>G	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1465C>G	15.37:g.42693949C>G	ENSP00000380349:p.Arg489Gly					CAPN3_ENST00000357568.3_Missense_Mutation_p.R489G|CAPN3_ENST00000349748.3_Missense_Mutation_p.R441G|CAPN3_ENST00000356316.3_Missense_Mutation_p.R402G|CAPN3_ENST00000318023.7_Missense_Mutation_p.R489G|RP11-164J13.1_ENST00000495723.1_RNA	p.R489G	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	11	1684	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	489		R -> Q (in LGMD2A).|R -> W (in LGMD2A).	Domain III.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.1465C>G	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934872	0.52866	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43	4.54	-0.179	0.13299	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	U	0.000000	D	0.93651	0.7972	M	0.84156	2.68	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;0.999	D	0.93270	0.6651	10	0.66056	D	0.02	.	13.8783	0.63667	0.6099:0.3901:0.0:0.0	.	354;402;441;489;489;402	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	G	402;489;489;441;489	ENSP00000348667:R402G;ENSP00000380349:R489G;ENSP00000350181:R489G;ENSP00000183936:R441G;ENSP00000326281:R489G	ENSP00000326281:R489G	R	+	1	2	CAPN3	40481241	0.993000	0.37304	0.993000	0.49108	0.703000	0.40648	0.903000	0.28475	0.142000	0.18901	-0.311000	0.09066	CGG		0.572	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			10	39	0	0	0	1	0	10	39				
SLITRK3	22865	broad.mit.edu	37	3	164908297	164908297	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:164908297G>T	ENST00000475390.1	-	2	765	c.322C>A	c.(322-324)Ctt>Att	p.L108I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L108I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	108					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGTTCCCAAGATTAATAGAC	0.343										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(322-324)Ctt>Att		SLIT and NTRK-like family, member 3							50.0	52.0	51.0					3																	164908297		2202	4299	6501	SO:0001583	missense	22865					integral to membrane		g.chr3:164908297G>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.322C>A	3.37:g.164908297G>T	ENSP00000420091:p.Leu108Ile	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.L108I	p.L108I			O94933	SLIK3_HUMAN			2	765	-			108					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.322C>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745175	0.49151	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;T	0.72505	-0.66;-0.66;-0.66	5.99	5.99	0.97316	.	0.000000	0.33875	N	0.004474	D	0.84642	0.5517	M	0.83603	2.65	0.41493	D	0.988236	D	0.63880	0.993	D	0.70016	0.967	D	0.85914	0.1442	10	0.62326	D	0.03	-14.9588	15.2214	0.73313	0.0:0.0:0.8594:0.1406	.	108	O94933	SLIK3_HUMAN	I	108	ENSP00000420091:L108I;ENSP00000241274:L108I;ENSP00000419611:L108I	ENSP00000241274:L108I	L	-	1	0	SLITRK3	166390991	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.501000	0.66950	2.847000	0.97988	0.655000	0.94253	CTT		0.343	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		23	10	1	0	1.22574e-08	1	1.35865e-08	23	10				
MFI2	4241	broad.mit.edu	37	3	196736583	196736583	+	Silent	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:196736583G>A	ENST00000296350.5	-	11	1544	c.1431C>T	c.(1429-1431)caC>caT	p.H477H		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	477	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CGAAACCGGCGTGGCAGGAGC	0.637																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(1429-1431)caC>caT		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5							50.0	54.0	53.0					3																	196736583		2203	4300	6503	SO:0001819	synonymous_variant	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196736583G>A		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1431C>T	3.37:g.196736583G>A							p.H477H	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	11	1544	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		477			Transferrin-like 2.		Q9BQE2	Silent	SNP	ENST00000296350.5	37	c.1431C>T	CCDS3325.1																																																																																				0.637	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			51	28	0	0	0	1	0	51	28				
IGF2R	3482	broad.mit.edu	37	6	160517488	160517488	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:160517488G>C	ENST00000356956.1	+	45	6821	c.6673G>C	c.(6673-6675)Gtg>Ctg	p.V2225L	RP11-288H12.3_ENST00000569097.1_RNA|IGF2R_ENST00000475584.1_3'UTR	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2225					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.V2225M(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TCTCGATGTCGTGTTTGCCTC	0.512																																						ENST00000356956.1																			1	Substitution - Missense(1)	p.V2225M(1)	large_intestine(1)	breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(6673-6675)Gtg>Ctg		insulin-like growth factor 2 receptor							302.0	217.0	246.0					6																	160517488		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160517488G>C	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6673G>C	6.37:g.160517488G>C	ENSP00000349437:p.Val2225Leu					IGF2R_ENST00000475584.1_3'UTR	p.V2225L	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	45	6821	+		Breast(66;0.000777)|Ovarian(120;0.0305)	2225					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.6673G>C	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307748	0.40795	.	.	ENSG00000197081	ENST00000356956	T	0.03801	3.8	5.69	5.69	0.88448	Mannose-6-phosphate receptor, binding (1);	0.232974	0.43579	D	0.000554	T	0.03608	0.0103	M	0.68952	2.095	0.43137	D	0.994887	P	0.41475	0.751	B	0.39738	0.308	T	0.50065	-0.8871	10	0.20519	T	0.43	-28.1939	13.4845	0.61357	0.0806:0.0:0.9194:0.0	.	2225	P11717	MPRI_HUMAN	L	2225	ENSP00000349437:V2225L	ENSP00000349437:V2225L	V	+	1	0	IGF2R	160437478	1.000000	0.71417	0.996000	0.52242	0.642000	0.38348	3.377000	0.52425	2.677000	0.91161	0.655000	0.94253	GTG		0.512	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		19	196	0	0	0	1	0	19	196				
CATSPER1	117144	broad.mit.edu	37	11	65784607	65784607	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr11:65784607G>T	ENST00000312106.5	-	11	2377	c.2240C>A	c.(2239-2241)gCa>gAa	p.A747E		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	747					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTCCACGCTTGCCACCAGCTG	0.642																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2239-2241)gCa>gAa		cation channel, sperm associated 1							44.0	36.0	39.0					11																	65784607		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65784607G>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.2240C>A	11.37:g.65784607G>T	ENSP00000309052:p.Ala747Glu						p.A747E	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			11	2377	-			747					Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.2240C>A	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795418	0.50208	.	.	ENSG00000175294	ENST00000312106	D	0.98178	-4.77	5.39	3.45	0.39498	.	0.329918	0.17462	N	0.173420	D	0.93890	0.8045	N	0.20986	0.625	0.31070	N	0.713126	P	0.42409	0.779	B	0.35182	0.197	D	0.90962	0.4813	10	0.27785	T	0.31	-6.5401	10.8461	0.46744	0.0:0.0:0.6567:0.3433	.	747	Q8NEC5	CTSR1_HUMAN	E	747	ENSP00000309052:A747E	ENSP00000309052:A747E	A	-	2	0	CATSPER1	65541183	0.997000	0.39634	0.586000	0.28679	0.425000	0.31504	2.965000	0.49200	0.599000	0.29845	0.644000	0.83932	GCA		0.642	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		13	16	1	0	0.00185496	1	0.00189618	13	16				
ACACB	32	broad.mit.edu	37	12	109696795	109696795	+	Silent	SNP	A	A	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr12:109696795A>G	ENST00000338432.7	+	47	6497	c.6378A>G	c.(6376-6378)ggA>ggG	p.G2126G	ACACB_ENST00000377848.3_Silent_p.G2126G|ACACB_ENST00000543201.1_Silent_p.G792G|ACACB_ENST00000377854.5_Silent_p.G2056G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2126	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AGCAGGCAGGACAGGTGTGGT	0.577											OREG0007682	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ACACB|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(6376-6378)ggA>ggG		acetyl-CoA carboxylase beta	Biotin(DB00121)						140.0	140.0	140.0					12																	109696795		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109696795A>G	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6378A>G	12.37:g.109696795A>G			OREG0007682	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ACACB|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1421	ACACB_ENST00000377854.5_Silent_p.G2056G|ACACB_ENST00000543201.1_Silent_p.G792G|ACACB_ENST00000377848.3_Silent_p.G2126G	p.G2126G			O00763	ACACB_HUMAN			47	6497	+			2126			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.6378A>G	CCDS31898.1																																																																																				0.577	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		44	188	0	0	0	1	0	44	188				
MYRIP	25924	broad.mit.edu	37	3	40231702	40231702	+	Silent	SNP	A	A	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:40231702A>G	ENST00000302541.6	+	10	1755	c.1413A>G	c.(1411-1413)agA>agG	p.R471R	MYRIP_ENST00000539167.1_Silent_p.R284R|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Silent_p.R471R|MYRIP_ENST00000396217.3_Silent_p.R382R|MYRIP_ENST00000444716.1_Silent_p.R471R	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	471	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACCAGGCCAGACTGTCCTGGT	0.622																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1411-1413)agA>agG		myosin VIIA and Rab interacting protein							64.0	69.0	68.0					3																	40231702		2203	4300	6503	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40231702A>G	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1413A>G	3.37:g.40231702A>G						MYRIP_ENST00000396217.3_Silent_p.R382R|MYRIP_ENST00000539167.1_Silent_p.R284R|MYRIP_ENST00000425621.1_Silent_p.R471R|MYRIP_ENST00000444716.1_Silent_p.R471R|MYRIP_ENST00000459828.1_3'UTR	p.R471R	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	10	1755	+			471			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.1413A>G	CCDS2689.1																																																																																				0.622	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		32	60	0	0	0	1	0	32	60				
PRSS3P2	154754	broad.mit.edu	37	7	142478853	142478853	+	RNA	SNP	T	T	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr7:142478853T>C	ENST00000603901.1	+	0	14					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										AATCCACTCCTGATCCTTGCC	0.572																																						ENST00000603901.1																			0																																																			0							g.chr7:142478853T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142478853T>C								NR_001296.3						0	14	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.572	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	29	0	0	0	1	0	4	29				
ZNF676	163223	broad.mit.edu	37	19	22363519	22363519	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr19:22363519C>G	ENST00000397121.2	-	3	1317	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	334					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(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TAGGGTTTCTCTCCAGCATGA	0.408																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1000-1002)Gag>Cag		zinc finger protein 676							67.0	73.0	71.0					19																	22363519		2168	4275	6443	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363519C>G	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1000G>C	19.37:g.22363519C>G	ENSP00000380310:p.Glu334Gln						p.E334Q	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1317	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	334					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1000G>C	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	13.61	2.287662	0.40494	.	.	ENSG00000196109	ENST00000397121	T	0.25912	1.77	0.85	0.85	0.18980	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41581	0.1165	L	0.56124	1.755	0.28812	N	0.898193	D	0.76494	0.999	D	0.85130	0.997	T	0.25117	-1.0141	9	0.66056	D	0.02	.	8.4137	0.32659	0.0:1.0:0.0:0.0	.	334	Q8N7Q3	ZN676_HUMAN	Q	334	ENSP00000380310:E334Q	ENSP00000380310:E334Q	E	-	1	0	ZNF676	22155359	0.521000	0.26258	0.015000	0.15790	0.015000	0.08874	1.375000	0.34295	0.192000	0.20272	0.195000	0.17529	GAG		0.408	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		32	34	0	0	0	1	0	32	34				
SLCO2A1	6578	broad.mit.edu	37	3	133664065	133664065	+	Silent	SNP	G	G	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:133664065G>T	ENST00000310926.4	-	10	1608	c.1335C>A	c.(1333-1335)cgC>cgA	p.R445R	SLCO2A1_ENST00000493729.1_Silent_p.R369R	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	445	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.		R -> C (in dbSNP:rs146970901). {ECO:0000269|PubMed:22553128}.		lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	AGCAGTCCCTGCGGCAGGCAG	0.522																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(1333-1335)cgC>cgA		solute carrier organic anion transporter family, member 2A1							140.0	152.0	148.0					3																	133664065		2203	4300	6503	SO:0001819	synonymous_variant	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133664065G>T		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1335C>A	3.37:g.133664065G>T						SLCO2A1_ENST00000493729.1_Silent_p.R369R	p.R445R	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			10	1608	-			445			Kazal-like.		Q86V98|Q8IUN2	Silent	SNP	ENST00000310926.4	37	c.1335C>A	CCDS3084.1																																																																																				0.522	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		56	305	1	0	5.73376e-24	1	6.59382e-24	56	305				
MXD1	4084	broad.mit.edu	37	2	70165331	70165331	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr2:70165331G>C	ENST00000264444.2	+	6	841	c.581G>C	c.(580-582)aGc>aCc	p.S194T	MXD1_ENST00000465446.1_3'UTR|MXD1_ENST00000540449.1_Missense_Mutation_p.S184T	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	194					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						AGCATGCAGAGCCTCGGCAGT	0.562																																						ENST00000264444.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						c.(580-582)aGc>aCc		MAX dimerization protein 1							116.0	111.0	113.0					2																	70165331		2203	4300	6503	SO:0001583	missense	4084				cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:70165331G>C		CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.581G>C	2.37:g.70165331G>C	ENSP00000264444:p.Ser194Thr					MXD1_ENST00000540449.1_Missense_Mutation_p.S184T|MXD1_ENST00000465446.1_3'UTR	p.S194T	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN			6	841	+			194					B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Missense_Mutation	SNP	ENST00000264444.2	37	c.581G>C	CCDS1896.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119716	0.94385	.	.	ENSG00000059728	ENST00000435990;ENST00000264444;ENST00000540449	T;T;T	0.61274	0.19;0.12;0.26	5.34	5.34	0.76211	.	0.084922	0.85682	D	0.000000	T	0.77665	0.4164	M	0.80982	2.52	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.73380	0.98;0.98;0.98	T	0.78979	-0.1990	10	0.62326	D	0.03	.	18.1326	0.89606	0.0:0.0:1.0:0.0	.	184;193;194	B7ZLI6;B7ZLI7;Q05195	.;.;MAD1_HUMAN	T	162;194;184	ENSP00000410672:S162T;ENSP00000264444:S194T;ENSP00000443935:S184T	ENSP00000264444:S194T	S	+	2	0	MXD1	70018835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.633000	0.98432	2.937000	0.99478	0.650000	0.86243	AGC		0.562	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251845.3	NM_002357		33	77	0	0	0	1	0	33	77				
TP53	7157	broad.mit.edu	37	17	7578502	7578502	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:7578502A>C	ENST00000269305.4	-	5	617	c.428T>G	c.(427-429)gTg>gGg	p.V143G	TP53_ENST00000420246.2_Missense_Mutation_p.V143G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.V143G|TP53_ENST00000445888.2_Missense_Mutation_p.V143G|TP53_ENST00000455263.2_Missense_Mutation_p.V143G|TP53_ENST00000359597.4_Missense_Mutation_p.V143G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	143	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius; severely represses interaction with ZNF385A).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCACAGCTGCACAGGGCAGGT	0.587		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		42	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - In frame(4)|Deletion - Frameshift(2)	p.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1)	large_intestine(10)|stomach(7)|breast(6)|bone(4)|lung(3)|ovary(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|oesophagus(2)|vulva(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(427-429)gTg>gGg	Other conserved DNA damage response genes	tumor protein p53							57.0	56.0	56.0					17																	7578502		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578502A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.428T>G	17.37:g.7578502A>C	ENSP00000269305:p.Val143Gly	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.V143G|TP53_ENST00000359597.4_Missense_Mutation_p.V143G|TP53_ENST00000413465.2_Missense_Mutation_p.V143G|TP53_ENST00000269305.4_Missense_Mutation_p.V143G|TP53_ENST00000455263.2_Missense_Mutation_p.V143G	p.V143G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	560	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	143		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.428T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.125835	0.37533	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.48	1.94	0.25998	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.343688	0.28219	N	0.016151	D	0.99697	0.9885	M	0.87381	2.88	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.997;0.998;0.99;0.998;0.999;0.999;0.998	D	0.99035	1.0822	10	0.87932	D	0	-32.0412	3.2523	0.06819	0.6411:0.1439:0.0771:0.1378	.	104;143;143;50;143;143;143	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	143;143;143;143;143;143;132;50;11;50;11;143	ENSP00000410739:V143G;ENSP00000352610:V143G;ENSP00000269305:V143G;ENSP00000398846:V143G;ENSP00000391127:V143G;ENSP00000391478:V143G;ENSP00000425104:V11G;ENSP00000423862:V50G;ENSP00000424104:V143G	ENSP00000269305:V143G	V	-	2	0	TP53	7519227	1.000000	0.71417	0.664000	0.29753	0.012000	0.07955	9.264000	0.95635	0.097000	0.17492	-0.336000	0.08194	GTG		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		36	1	0	0	0	1	0	36	1				
USP51	158880	broad.mit.edu	37	X	55515333	55515333	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chrX:55515333C>T	ENST00000500968.3	-	2	122	c.40G>A	c.(40-42)Ggg>Agg	p.G14R	USP51_ENST00000586165.1_5'Flank	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	14					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CAGCGGACCCCAGAGCCGGAG	0.627																																						ENST00000500968.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(40-42)Ggg>Agg		ubiquitin specific peptidase 51							11.0	9.0	10.0					X																	55515333		2146	4199	6345	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55515333C>T	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.40G>A	X.37:g.55515333C>T	ENSP00000423333:p.Gly14Arg						p.G14R	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN			2	122	-			14					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.40G>A	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	8.507	0.865628	0.17250	.	.	ENSG00000247746	ENST00000500968	T	0.09445	2.98	2.66	-0.964	0.10326	.	.	.	.	.	T	0.05593	0.0147	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.17433	0.018	T	0.38478	-0.9659	9	0.59425	D	0.04	.	8.448	0.32854	0.3904:0.6096:0.0:0.0	.	14	Q70EK9	UBP51_HUMAN	R	14	ENSP00000423333:G14R	ENSP00000423333:G14R	G	-	1	0	USP51	55532058	0.001000	0.12720	0.000000	0.03702	0.414000	0.31173	-0.680000	0.05197	-0.319000	0.08652	0.431000	0.28591	GGG		0.627	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		8	16	0	0	0	1	0	8	16				
MSC	9242	broad.mit.edu	37	8	72756427	72756427	+	De_novo_Start_InFrame	SNP	T	T	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr8:72756427T>A	ENST00000325509.4	-	0	276				RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000457356.4_3'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin						branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GTTGTCCCCCTTGCCCACACG	0.692																																						ENST00000325509.4																			0				endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26								musculin							20.0	22.0	21.0					8																	72756427		1614	3372	4986			9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72756427T>A		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489		8.37:g.72756427T>A						RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron		NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		0	276	-	Breast(64;0.176)							O75946|Q53XZ2|Q9BRE7	Translation_Start_Site	SNP	ENST00000325509.4	37		CCDS43746.1																																																																																				0.692	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		29	17	0	0	0	1	0	29	17				
MT-CYB	4519	broad.mit.edu	37	M	15596	15596	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chrM:15596G>C	ENST00000361789.2	+	1	850	c.850G>C	c.(850-852)Gtc>Ctc	p.V284L	MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TP_ENST00000387461.2_RNA|MT-ND6_ENST00000361681.2_5'Flank			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	284					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						TTCTCCGATCCGTCCCTAACA	0.458											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(850-852)Gtc>Ctc		mitochondrially encoded cytochrome b																																				SO:0001583	missense	4519							g.chrM:15596G>C			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.850G>C	M.37:g.15596G>C	ENSP00000354554:p.Val284Leu		OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	585		p.284_284insL							1	850	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.850G>C																																																																																					0.458	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		18	84	0	0	0	1	0	18	84				
USP10	9100	broad.mit.edu	37	16	84792334	84792334	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr16:84792334A>G	ENST00000219473.7	+	5	1318	c.1205A>G	c.(1204-1206)aAt>aGt	p.N402S	USP10_ENST00000570191.1_Missense_Mutation_p.N406S	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	402					autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TTGCTGGAGAATGTAACCCTA	0.438																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(1204-1206)aAt>aGt		ubiquitin specific peptidase 10							147.0	141.0	143.0					16																	84792334		1920	4109	6029	SO:0001583	missense	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84792334A>G	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1205A>G	16.37:g.84792334A>G	ENSP00000219473:p.Asn402Ser					USP10_ENST00000570191.1_Missense_Mutation_p.N406S	p.N402S	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			5	1318	+			402					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.1205A>G	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.745599	0.30955	.	.	ENSG00000103194	ENST00000219473	T	0.07327	3.2	5.48	3.12	0.35913	.	1.583880	0.03087	N	0.159279	T	0.12390	0.0301	L	0.50333	1.59	0.37620	D	0.921262	B;B	0.13594	0.008;0.001	B;B	0.19148	0.024;0.004	T	0.27331	-1.0077	10	0.22109	T	0.4	-14.6059	12.1334	0.53957	0.6964:0.3036:0.0:0.0	.	406;402	Q14694-3;Q14694	.;UBP10_HUMAN	S	402	ENSP00000219473:N402S	ENSP00000219473:N402S	N	+	2	0	USP10	83349835	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.679000	0.61649	0.405000	0.25532	0.528000	0.53228	AAT		0.438	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			24	52	0	0	0	1	0	24	52				
LINC00854	100874261	broad.mit.edu	37	17	41381938	41381938	+	RNA	SNP	C	C	G	rs4986161	byFrequency	TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:41381938C>G	ENST00000433702.2	-	0	14				LINC00854_ENST00000608223.1_RNA|LINC00854_ENST00000600764.1_RNA	NR_047479.1				long intergenic non-protein coding RNA 854																		aagagctgatcttatgcaggg	0.552																																						ENST00000433702.2																			0																																																			0							g.chr17:41381938C>G			17q21.31	2013-02-13	2013-02-13	2013-02-13	ENSG00000236383	ENSG00000236383		"""Long non-coding RNAs"""	43658	non-coding RNA	RNA, long non-coding			"""TMEM106A antisense RNA 1 (non-protein coding)"", ""TMEM106A antisense RNA 1"", ""TMEM106A antisense RNA 1 (tail to tail)"""	TMEM106A-AS1		22196729	Standard	NR_047479		Approved		uc031ras.1		OTTHUMG00000132641		17.37:g.41381938C>G								NR_047479.1						0	14	-									RNA	SNP	ENST00000433702.2	37																																																																																						0.552	LINC00854-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000255889.2			4	29	0	0	0	1	0	4	29				
FZD2	2535	broad.mit.edu	37	17	42636744	42636744	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:42636744C>T	ENST00000315323.3	+	1	1820	c.1688C>T	c.(1687-1689)aCc>aTc	p.T563I		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	563					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CACGGTGAGACCACCGTGTGA	0.597																																						ENST00000315323.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1687-1689)aCc>aTc		frizzled family receptor 2							15.0	15.0	15.0					17																	42636744		2203	4299	6502	SO:0001583	missense	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636744C>T	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1688C>T	17.37:g.42636744C>T	ENSP00000323901:p.Thr563Ile						p.T563I	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1820	+		Prostate(33;0.0181)	563					Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.1688C>T	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	c	18.16	3.563268	0.65538	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	T	0.74737	-0.87	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	M	0.73962	2.25	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	D	0.86994	0.2112	10	0.72032	D	0.01	.	17.6599	0.88189	0.0:1.0:0.0:0.0	.	563	Q14332	FZD2_HUMAN	I	639;563	ENSP00000323901:T563I	ENSP00000323901:T563I	T	+	2	0	FZD2	39992270	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	7.764000	0.85297	2.236000	0.73375	0.555000	0.69702	ACC		0.597	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		19	12	0	0	0	1	0	19	12				
EHMT2	10919	broad.mit.edu	37	6	31848029	31848029	+	Silent	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:31848029G>A	ENST00000375537.4	-	28	3471	c.3465C>T	c.(3463-3465)ggC>ggT	p.G1155G	SLC44A4_ENST00000229729.6_5'Flank|EHMT2_ENST00000395728.3_Silent_p.G1212G|SLC44A4_ENST00000465707.1_5'Flank|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.G1178G|EHMT2_ENST00000375530.4_Silent_p.G1121G|SLC44A4_ENST00000544672.1_5'Flank|SLC44A4_ENST00000375562.4_5'Flank	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1155	Interaction with histone H3. {ECO:0000250}.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						AGAAGCGGTCGCCATAGTCAA	0.567																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(3634-3636)ggC>ggT		euchromatic histone-lysine N-methyltransferase 2							45.0	46.0	46.0					6																	31848029		1510	2708	4218	SO:0001819	synonymous_variant	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31848029G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3465C>T	6.37:g.31848029G>A						EHMT2_ENST00000375528.4_Silent_p.G1178G|EHMT2_ENST00000375530.4_Silent_p.G1121G|EHMT2_ENST00000375537.4_Silent_p.G1155G|EHMT2_ENST00000480912.1_5'UTR	p.G1212G			Q96KQ7	EHMT2_HUMAN			27	3635	-			1155					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	c.3636C>T	CCDS4725.1																																																																																				0.567	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		4	37	0	0	0	1	0	4	37				
CHD4	1108	broad.mit.edu	37	12	6700933	6700933	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr12:6700933C>T	ENST00000357008.2	-	21	3312	c.3149G>A	c.(3148-3150)gGg>gAg	p.G1050E	CHD4_ENST00000544040.1_Missense_Mutation_p.G1043E|CHD4_ENST00000544484.1_Missense_Mutation_p.G1047E|CHD4_ENST00000309577.6_Missense_Mutation_p.G1050E	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1050					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CAATAATTTCCCAGATGCTCT	0.443																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(3148-3150)gGg>gAg		chromodomain helicase DNA binding protein 4							101.0	96.0	98.0					12																	6700933		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6700933C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3149G>A	12.37:g.6700933C>T	ENSP00000349508:p.Gly1050Glu					CHD4_ENST00000357008.2_Missense_Mutation_p.G1050E|CHD4_ENST00000544484.1_Missense_Mutation_p.G1047E|CHD4_ENST00000544040.1_Missense_Mutation_p.G1043E	p.G1050E			Q14839	CHD4_HUMAN			21	3312	-			1050					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3149G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077966	0.76528	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.96595	0.8889	H	0.98866	4.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.98537	1.0630	10	0.87932	D	0	.	18.6149	0.91299	0.0:1.0:0.0:0.0	.	1050;1050;1043	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	E	1047;1043;1050;1050;1024	ENSP00000440392:G1047E;ENSP00000440542:G1043E;ENSP00000312419:G1050E;ENSP00000349508:G1050E	ENSP00000312419:G1050E	G	-	2	0	CHD4	6571194	1.000000	0.71417	0.998000	0.56505	0.230000	0.25150	7.792000	0.85828	2.402000	0.81655	0.655000	0.94253	GGG		0.443	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		65	3	0	0	0	1	0	65	3				
BCL2L13	23786	broad.mit.edu	37	22	18185097	18185097	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr22:18185097G>C	ENST00000317582.5	+	6	892	c.545G>C	c.(544-546)gGc>gCc	p.G182A	BCL2L13_ENST00000493680.1_Missense_Mutation_p.G182A|BCL2L13_ENST00000337612.5_Missense_Mutation_p.G20A|BCL2L13_ENST00000538149.1_Missense_Mutation_p.G58A|BCL2L13_ENST00000399782.1_Missense_Mutation_p.G182A|BCL2L13_ENST00000543133.1_Missense_Mutation_p.G20A|BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000418951.2_Intron	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	182					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		CTGCAGTTTGGCGTGACATAC	0.403																																						ENST00000317582.5																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15						c.(544-546)gGc>gCc		BCL2-like 13 (apoptosis facilitator)							114.0	107.0	110.0					22																	18185097		2203	4300	6503	SO:0001583	missense	23786				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	g.chr22:18185097G>C	AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.545G>C	22.37:g.18185097G>C	ENSP00000318883:p.Gly182Ala					BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000543133.1_Missense_Mutation_p.G20A|BCL2L13_ENST00000493680.1_Missense_Mutation_p.G182A|BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000538149.1_Missense_Mutation_p.G58A|BCL2L13_ENST00000399782.1_Missense_Mutation_p.G182A|BCL2L13_ENST00000337612.5_Missense_Mutation_p.G20A	p.G182A	NM_015367.2	NP_056182.2	Q9BXK5	B2L13_HUMAN		Lung(27;0.199)	6	892	+		all_epithelial(15;0.123)	182					B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	ENST00000317582.5	37	c.545G>C	CCDS13746.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691637	0.88735	.	.	ENSG00000099968	ENST00000399782;ENST00000317582;ENST00000543133;ENST00000538149;ENST00000337612;ENST00000493680	T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63	5.95	5.95	0.96441	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (2);	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	M	0.69823	2.125	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.00102	-1.2062	10	0.31617	T	0.26	-13.5484	18.1662	0.89727	0.0:0.0:1.0:0.0	.	58;182;182	B7Z238;Q9BXK5;Q9BXK5-2	.;B2L13_HUMAN;.	A	182;182;20;58;20;182	ENSP00000382682:G182A;ENSP00000318883:G182A;ENSP00000437667:G20A;ENSP00000441344:G58A;ENSP00000338932:G20A;ENSP00000434764:G182A	ENSP00000318883:G182A	G	+	2	0	BCL2L13	16565097	1.000000	0.71417	0.989000	0.46669	0.835000	0.47333	5.477000	0.66799	2.824000	0.97209	0.655000	0.94253	GGC		0.403	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367		37	47	0	0	0	1	0	37	47				
CCDC88B	283234	broad.mit.edu	37	11	64111265	64111265	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr11:64111265C>T	ENST00000356786.5	+	13	1378	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	445						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTAGCAGGAGCGGCCCCCTCG	0.637																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1333-1335)gCg>gTg		coiled-coil domain containing 88B							19.0	24.0	22.0					11																	64111265		2153	4255	6408	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64111265C>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1334C>T	11.37:g.64111265C>T	ENSP00000349238:p.Ala445Val					CCDC88B_ENST00000463837.1_3'UTR	p.A445V	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			13	1378	+			445					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.1334C>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	c	8.252	0.809213	0.16537	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.20598	2.06	3.53	-6.29	0.02013	.	.	.	.	.	T	0.09024	0.0223	N	0.12746	0.255	0.09310	N	0.999999	B;B;B	0.16396	0.017;0.003;0.017	B;B;B	0.09377	0.004;0.002;0.004	T	0.34329	-0.9833	9	0.32370	T	0.25	.	7.4698	0.27342	0.0:0.6326:0.1416:0.2258	.	445;94;445	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	V	445	ENSP00000349238:A445V	ENSP00000349238:A445V	A	+	2	0	CCDC88B	63867841	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.261000	0.08694	-1.040000	0.03271	-0.390000	0.06520	GCG		0.637	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		6	10	0	0	0	1	0	6	10				
KIF1A	547	broad.mit.edu	37	2	241713633	241713633	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr2:241713633T>A	ENST00000320389.7	-	12	1162	c.1004A>T	c.(1003-1005)gAc>gTc	p.D335V	KIF1A_ENST00000498729.2_Missense_Mutation_p.D335V	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	335	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GTAGTTGATGTCTGCAGGACT	0.587																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(1003-1005)gAc>gTc		kinesin family member 1A							78.0	84.0	82.0					2																	241713633		2164	4258	6422	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241713633T>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1004A>T	2.37:g.241713633T>A	ENSP00000322791:p.Asp335Val					KIF1A_ENST00000320389.7_Missense_Mutation_p.D335V	p.D335V	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	12	1250	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	335			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.1004A>T	CCDS46561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.47|18.47	3.630372|3.630372	0.67015|0.67015	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283|ENST00000428768	T;T;T|.	0.75589|.	-0.95;-0.95;-0.95|.	4.33|4.33	4.33|4.33	0.51752|0.51752	Kinesin, motor domain (3);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.73845|0.73845	0.3639|0.3639	M|M	0.78223|0.78223	2.4|2.4	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.97110|.	1.0;0.999;0.981|.	T|T	0.75648|0.75648	-0.3245|-0.3245	10|5	0.87932|.	D|.	0|.	.|.	13.1872|13.1872	0.59688|0.59688	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	335;335;335|.	F5H045;Q12756-2;Q12756|.	.;.;KIF1A_HUMAN|.	V|S	335|142	ENSP00000322791:D335V;ENSP00000438388:D335V;ENSP00000384231:D335V|.	ENSP00000322791:D335V|.	D|R	-|-	2|3	0|2	KIF1A|KIF1A	241362306|241362306	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.596000|0.596000	0.36781|0.36781	7.764000|7.764000	0.85297|0.85297	1.593000|1.593000	0.50029|0.50029	0.374000|0.374000	0.22700|0.22700	GAC|AGA		0.587	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		27	8	0	0	0	1	0	27	8				
SLC25A39	51629	broad.mit.edu	37	17	42398463	42398463	+	Silent	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:42398463G>A	ENST00000377095.5	-	8	773	c.654C>T	c.(652-654)ggC>ggT	p.G218G	SLC25A39_ENST00000590194.1_Silent_p.G210G|SLC25A39_ENST00000225308.8_Silent_p.G210G|SLC25A39_ENST00000537904.2_Silent_p.G195G|SLC25A39_ENST00000586016.1_Silent_p.G86G	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	218					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGGGGCCCCAGCCCAGCCACA	0.637																																						ENST00000225308.8																			0				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(628-630)ggC>ggT		solute carrier family 25, member 39							24.0	22.0	23.0					17																	42398463		2200	4298	6498	SO:0001819	synonymous_variant	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42398463G>A	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.654C>T	17.37:g.42398463G>A						SLC25A39_ENST00000590194.1_Silent_p.G210G|SLC25A39_ENST00000537904.2_Silent_p.G195G|SLC25A39_ENST00000586016.1_Silent_p.G86G|SLC25A39_ENST00000377095.5_Silent_p.G218G	p.G210G	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	8	804	-		Prostate(33;0.0233)	218					A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Silent	SNP	ENST00000377095.5	37	c.630C>T	CCDS45700.1																																																																																				0.637	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		10	36	0	0	0	1	0	10	36				
LRP1B	53353	broad.mit.edu	37	2	141108430	141108430	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr2:141108430G>A	ENST00000389484.3	-	77	12799	c.11828C>T	c.(11827-11829)cCa>cTa	p.P3943L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3943					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATTCCGCCTGGATTAAACTG	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(11827-11829)cCa>cTa		low density lipoprotein receptor-related protein 1B							81.0	83.0	82.0					2																	141108430		2201	4300	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141108430G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11828C>T	2.37:g.141108430G>A	ENSP00000374135:p.Pro3943Leu	TSP Lung(27;0.18)					p.P3943L	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	77	12799	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3943					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11828C>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.97|16.97	3.269397|3.269397	0.59540|0.59540	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.91124|.	-2.79|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	0.070431|.	0.64402|.	D|.	0.000017|.	T|.	0.52041|.	0.1710|.	N|N	0.16166|0.16166	0.38|0.38	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|.	0.45716|.	-0.9242|.	10|.	0.27785|.	T|.	0.31|.	.|.	19.706|19.706	0.96072|0.96072	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3943|.	Q9NZR2|.	LRP1B_HUMAN|.	L|X	3943;3881|175	ENSP00000374135:P3943L|.	ENSP00000374135:P3943L|.	P|Q	-|-	2|1	0|0	LRP1B|LRP1B	140824900|140824900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.275000|9.275000	0.95738|0.95738	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		31	16	0	0	0	1	0	31	16				
PLPPR4	9890	broad.mit.edu	37	1	99764627	99764627	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:99764627T>A	ENST00000370185.3	+	4	1072	c.575T>A	c.(574-576)aTt>aAt	p.I192N	LPPR4_ENST00000457765.1_Missense_Mutation_p.I192N|LPPR4_ENST00000370184.1_Missense_Mutation_p.I34N	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		192					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ACAGCTCTCATTACAGATATC	0.368																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(574-576)aTt>aAt									156.0	141.0	146.0					1																	99764627		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99764627T>A																												ENST00000370185.3:c.575T>A	1.37:g.99764627T>A	ENSP00000359204:p.Ile192Asn					LPPR4_ENST00000457765.1_Missense_Mutation_p.I192N|LPPR4_ENST00000370184.1_Missense_Mutation_p.I34N	p.I192N	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	4	1072	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	192					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.575T>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925363	0.73213	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.79247	-1.25;-1.08;-1.25	5.41	5.41	0.78517	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.049452	0.85682	D	0.000000	D	0.86268	0.5892	M	0.80332	2.49	0.58432	D	0.999998	D;D	0.76494	0.999;0.958	D;D	0.76071	0.987;0.936	D	0.88542	0.3110	10	0.87932	D	0	-23.9089	15.7585	0.78058	0.0:0.0:0.0:1.0	.	192;192	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	N	192;192;192;34	ENSP00000359204:I192N;ENSP00000394913:I192N;ENSP00000359203:I34N	ENSP00000263178:I192N	I	+	2	0	RP4-788L13.1	99537215	1.000000	0.71417	0.999000	0.59377	0.329000	0.28539	7.997000	0.88414	2.191000	0.70037	0.528000	0.53228	ATT		0.368	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			11	16	0	0	0	1	0	11	16				
FRMPD3	84443	broad.mit.edu	37	X	106796138	106796138	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chrX:106796138C>A	ENST00000276185.4	+	8	723	c.723C>A	c.(721-723)gaC>gaA	p.D241E	FRMPD3_ENST00000477796.1_3'UTR			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	241	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TTCTTCAGGACAAGCAACCCC	0.463																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(721-723)gaC>gaA		FERM and PDZ domain containing 3							33.0	28.0	30.0					X																	106796138		876	1991	2867	SO:0001583	missense	84443					cytoskeleton		g.chrX:106796138C>A	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.723C>A	X.37:g.106796138C>A	ENSP00000276185:p.Asp241Glu					FRMPD3_ENST00000477796.1_3'UTR	p.D241E			Q5JV73	FRPD3_HUMAN			8	723	+			241			FERM.		Q96JK8	Missense_Mutation	SNP	ENST00000276185.4	37	c.723C>A		.	.	.	.	.	.	.	.	.	.	c	13.42	2.231372	0.39399	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.14640	2.49;2.5	5.82	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.03564	0.0102	N	0.00823	-1.155	0.34610	D	0.717514	.	.	.	.	.	.	T	0.27905	-1.0060	8	0.02654	T	1	.	12.8569	0.57890	0.0:0.9203:0.0:0.0797	.	.	.	.	E	241;189	ENSP00000276185:D241E;ENSP00000398668:D189E	ENSP00000276185:D241E	D	+	3	2	FRMPD3	106682794	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.974000	0.29436	1.200000	0.43188	0.591000	0.81541	GAC		0.463	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		11	14	1	0	6.40141e-05	1	6.84802e-05	11	14				
KIAA0895L	653319	broad.mit.edu	37	16	67214278	67214278	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr16:67214278C>T	ENST00000290881.7	-	3	1162	c.236G>A	c.(235-237)cGc>cAc	p.R79H	KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R79H|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R79H			Q68EN5	K895L_HUMAN	KIAA0895-like	79										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GCTCTCACTGCGACGCATGTG	0.692																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(235-237)cGc>cAc		KIAA0895-like							15.0	19.0	17.0					16																	67214278		2006	4154	6160	SO:0001583	missense	653319							g.chr16:67214278C>T	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.236G>A	16.37:g.67214278C>T	ENSP00000290881:p.Arg79His					KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R79H|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R79H	p.R79H			Q68EN5	K895L_HUMAN			3	1162	-			79					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	c.236G>A	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035458	0.93630	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.6	4.6	0.57074	.	0.055709	0.64402	D	0.000001	T	0.75532	0.3862	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.77856	-0.2432	9	0.72032	D	0.01	-19.1862	15.2995	0.73936	0.0:1.0:0.0:0.0	.	79;79	Q68EN5-2;Q68EN5	.;K895L_HUMAN	H	79	.	ENSP00000290881:R79H	R	-	2	0	KIAA0895L	65771779	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	4.657000	0.61490	2.536000	0.85505	0.650000	0.86243	CGC		0.692	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		7	6	0	0	0	1	0	7	6				
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247		TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:32725559C>T	ENST00000437316.2	-	4	811	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.G250S|HLA-DQB2_ENST00000411527.1_Intron			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	254					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(748-750)Ggt>Agt		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725559C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.748G>A	6.37:g.32725559C>T	ENSP00000396330:p.Gly250Ser					HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S|HLA-DQB2_ENST00000411527.1_Intron	p.G250S			Q5SR06	Q5SR06_HUMAN			4	809	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.748G>A		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.519393	0.00149	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00623	6.18;6.15	3.24	-1.21	0.09524	.	0.870743	0.09631	N	0.776240	T	0.00178	0.0005	.	.	.	0.21967	N	0.999447	B	0.10296	0.003	B	0.09377	0.004	T	0.22277	-1.0221	9	0.36615	T	0.2	.	4.3261	0.11041	0.0:0.2114:0.1703:0.6183	.	250	A2ADX3	.	S	250	ENSP00000396330:G250S;ENSP00000410512:G250S	ENSP00000410512:G250S	G	-	1	0	HLA-DQB2	32833537	0.000000	0.05858	0.134000	0.22075	0.023000	0.10783	0.266000	0.18534	-0.331000	0.08501	-1.846000	0.00573	GGT		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			6	39	0	0	0	1	0	6	39				
TMEM144	55314	broad.mit.edu	37	4	159140504	159140504	+	Silent	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr4:159140504G>A	ENST00000296529.6	+	6	895	c.375G>A	c.(373-375)ccG>ccA	p.P125P	TMEM144_ENST00000514558.1_Silent_p.P125P	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	125						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TATCAAATCCGCTGCTAAATT	0.363																																						ENST00000514558.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19						c.(373-375)ccG>ccA		transmembrane protein 144							151.0	151.0	151.0					4																	159140504		2203	4300	6503	SO:0001819	synonymous_variant	55314					integral to membrane		g.chr4:159140504G>A	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.375G>A	4.37:g.159140504G>A						TMEM144_ENST00000296529.6_Silent_p.P125P	p.P125P			Q7Z5S9	TM144_HUMAN		COAD - Colon adenocarcinoma(41;0.0539)	5	2171	+	all_hematologic(180;0.24)	Renal(120;0.0854)	125					D3DP24|Q49A05|Q9NUT3	Silent	SNP	ENST00000296529.6	37	c.375G>A	CCDS3799.1																																																																																				0.363	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342		31	74	0	0	0	1	0	31	74				
F2RL1	2150	broad.mit.edu	37	5	76115089	76115089	+	Splice_Site	SNP	G	G	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr5:76115089G>T	ENST00000296677.4	+	1	288	c.82G>T	c.(82-84)Gga>Tga	p.G28*		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	28					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CACCATCCAAGGTGAGAAACC	0.672																																						ENST00000296677.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.e1+1		coagulation factor II (thrombin) receptor-like 1							8.0	9.0	9.0					5																	76115089		1924	3942	5866	SO:0001630	splice_region_variant	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76115089G>T	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.82+1G>T	5.37:g.76115089G>T							p.G28_splice	NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	1	288	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	28					Q13317|Q13346|Q53XJ8	Splice_Site	SNP	ENST00000296677.4	37	c.82_splice	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	34	5.325976	0.95708	.	.	ENSG00000164251	ENST00000296677	.	.	.	2.61	2.61	0.31194	.	2.230000	0.01650	N	0.024488	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-0.1463	8.883	0.35387	0.0:0.0:1.0:0.0	.	.	.	.	X	28	.	ENSP00000296677:G28X	G	+	1	0	F2RL1	76150845	1.000000	0.71417	0.150000	0.22450	0.109000	0.19521	2.310000	0.43708	1.772000	0.52199	0.563000	0.77884	GGA		0.672	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2		Nonsense_Mutation	4	7	1	0	0.014758	1	0.0149202	4	7				
SETDB1	9869	broad.mit.edu	37	1	150921998	150921998	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:150921998A>G	ENST00000271640.5	+	12	1767	c.1577A>G	c.(1576-1578)tAt>tGt	p.Y526C	SETDB1_ENST00000368969.4_Missense_Mutation_p.Y526C|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	526					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AACCAGACATATAGGTGAGAA	0.502																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1576-1578)tAt>tGt		SET domain, bifurcated 1							83.0	83.0	83.0					1																	150921998		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150921998A>G	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1577A>G	1.37:g.150921998A>G	ENSP00000271640:p.Tyr526Cys					SETDB1_ENST00000368969.4_Missense_Mutation_p.Y526C|SETDB1_ENST00000459773.1_Intron	p.Y526C	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		12	1767	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		526					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.1577A>G	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	A	3.083	-0.188546	0.06299	.	.	ENSG00000143379	ENST00000271640;ENST00000534805;ENST00000368969;ENST00000498193	D;T;D;T	0.87256	-2.23;1.52;-2.23;1.25	4.56	0.45	0.16624	.	1.210830	0.05470	N	0.552853	T	0.65015	0.2651	N	0.14661	0.345	0.09310	N	1	P;P;P;P	0.50156	0.464;0.599;0.932;0.889	B;B;B;B	0.43360	0.157;0.299;0.417;0.237	T	0.60505	-0.7250	10	0.39692	T	0.17	.	9.4298	0.38604	0.4876:0.0:0.0:0.5124	.	526;527;526;526	E9PRF4;E9PQM8;Q15047-3;Q15047	.;.;.;SETB1_HUMAN	C	526;527;526;526	ENSP00000271640:Y526C;ENSP00000436148:Y527C;ENSP00000357965:Y526C;ENSP00000432348:Y526C	ENSP00000271640:Y526C	Y	+	2	0	SETDB1	149188622	0.004000	0.15560	0.005000	0.12908	0.132000	0.20833	1.122000	0.31295	0.297000	0.22615	0.459000	0.35465	TAT		0.502	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			27	89	0	0	0	1	0	27	89				
WASH3P	374666	broad.mit.edu	37	15	102515250	102515250	+	RNA	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr15:102515250C>T	ENST00000557932.1	+	0	1096				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TTGACCCCTCCGGTGGCCGGG	0.642																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515250C>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515250C>T														0	1096	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.642	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		5	10	0	0	0	1	0	5	10				
GRIA3	2892	broad.mit.edu	37	X	122387246	122387246	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chrX:122387246C>A	ENST00000371251.1	+	3	413	c.361C>A	c.(361-363)Cac>Aac	p.H121N	GRIA3_ENST00000371256.5_Missense_Mutation_p.H121N|GRIA3_ENST00000541091.1_Missense_Mutation_p.H105N|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000542149.1_Missense_Mutation_p.H121N|GRIA3_ENST00000264357.5_Missense_Mutation_p.H121N			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	121					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.H121N(2)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TGGGGCCCTGCACACATCCTT	0.537																																						ENST00000264357.5																			2	Substitution - Missense(2)	p.H121N(2)	pancreas(2)	breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(361-363)Cac>Aac		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						153.0	117.0	129.0					X																	122387246		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122387246C>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.361C>A	X.37:g.122387246C>A	ENSP00000360297:p.His121Asn					GRIA3_ENST00000371256.5_Missense_Mutation_p.H121N|GRIA3_ENST00000542149.1_Missense_Mutation_p.H121N|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000541091.1_Missense_Mutation_p.H105N|GRIA3_ENST00000371251.1_Missense_Mutation_p.H121N	p.H121N	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			3	653	+			121					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.361C>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509028	0.64410	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	5.52	5.52	0.82312	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	M	0.69823	2.125	0.80722	D	1	P;D;D	0.54601	0.902;0.967;0.96	P;D;D	0.73708	0.569;0.981;0.968	T	0.29671	-1.0004	10	0.66056	D	0.02	.	17.5792	0.87960	0.0:1.0:0.0:0.0	.	105;121;121	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	N	121;121;121;121;105	ENSP00000264357:H121N;ENSP00000446146:H121N;ENSP00000360302:H121N;ENSP00000360297:H121N;ENSP00000446440:H105N	ENSP00000264357:H121N	H	+	1	0	GRIA3	122214927	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.454000	0.82982	0.513000	0.50165	CAC		0.537	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		27	89	1	0	8.58068e-18	1	9.74596e-18	27	89				
C1orf74	148304	broad.mit.edu	37	1	209956665	209956665	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:209956665C>G	ENST00000294811.1	-	2	571	c.315G>C	c.(313-315)gaG>gaC	p.E105D		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	105										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GCAGCACCTGCTCCAAGTGCT	0.532																																						ENST00000294811.1																			0				endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15						c.(313-315)gaG>gaC		chromosome 1 open reading frame 74							60.0	58.0	59.0					1																	209956665		2203	4300	6503	SO:0001583	missense	148304							g.chr1:209956665C>G	AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.315G>C	1.37:g.209956665C>G	ENSP00000294811:p.Glu105Asp						p.E105D	NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0328)	2	571	-			105						Missense_Mutation	SNP	ENST00000294811.1	37	c.315G>C	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617034	0.46736	.	.	ENSG00000162757	ENST00000294811	T	0.49139	0.79	5.61	2.43	0.29744	.	0.121454	0.56097	D	0.000037	T	0.60261	0.2255	M	0.66939	2.045	0.45378	D	0.998367	D	0.61697	0.99	D	0.65684	0.937	T	0.57602	-0.7783	10	0.59425	D	0.04	-9.4499	8.5125	0.33226	0.0:0.5967:0.0:0.4033	.	105	Q96LT6	CA074_HUMAN	D	105	ENSP00000294811:E105D	ENSP00000294811:E105D	E	-	3	2	C1orf74	208023288	0.025000	0.19082	1.000000	0.80357	0.996000	0.88848	0.124000	0.15728	0.205000	0.20568	0.655000	0.94253	GAG		0.532	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485		16	45	0	0	0	1	0	16	45				
COL20A1	57642	broad.mit.edu	37	20	61951483	61951483	+	Silent	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr20:61951483C>T	ENST00000358894.6	+	24	3109	c.3009C>T	c.(3007-3009)ccC>ccT	p.P1003P	COL20A1_ENST00000422202.1_Silent_p.P1010P|COL20A1_ENST00000326996.6_Silent_p.P1003P|COL20A1_ENST00000435874.1_Silent_p.P1010P	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1003	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCAGCCCACCCGCTGCGGGCT	0.716																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(3028-3030)ccC>ccT		collagen, type XX, alpha 1							6.0	7.0	7.0					20																	61951483		1851	3983	5834	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61951483C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3009C>T	20.37:g.61951483C>T						COL20A1_ENST00000435874.1_Silent_p.P1010P|COL20A1_ENST00000358894.6_Silent_p.P1003P|COL20A1_ENST00000326996.6_Silent_p.P1003P	p.P1010P			Q9P218	COKA1_HUMAN			23	3098	+	all_cancers(38;1.39e-10)		1003			TSP N-terminal.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.3030C>T	CCDS46628.1																																																																																				0.716	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		10	4	0	0	0	1	0	10	4				
DIRAS2	54769	broad.mit.edu	37	9	93375839	93375839	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr9:93375839G>A	ENST00000375765.3	-	2	659	c.271C>T	c.(271-273)Cga>Tga	p.R91*		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	91					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						AAGGACTGTCGGCTGGTAATG	0.582																																						ENST00000375765.3																			0				kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						c.(271-273)Cga>Tga		DIRAS family, GTP-binding RAS-like 2							122.0	105.0	110.0					9																	93375839		2203	4300	6503	SO:0001587	stop_gained	0				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr9:93375839G>A	AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.271C>T	9.37:g.93375839G>A	ENSP00000364919:p.Arg91*						p.R91*	NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN			2	659	-			91					B3KVM2	Nonsense_Mutation	SNP	ENST00000375765.3	37	c.271C>T	CCDS6687.1	.	.	.	.	.	.	.	.	.	.	G	38	7.044053	0.98025	.	.	ENSG00000165023	ENST00000375765	.	.	.	5.21	5.21	0.72293	.	0.140228	0.45361	D	0.000363	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2973	0.60305	0.0:0.0:0.842:0.158	.	.	.	.	X	91	.	ENSP00000364919:R91X	R	-	1	2	DIRAS2	92415659	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.441000	0.52893	2.884000	0.98904	0.655000	0.94253	CGA		0.582	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1			86	4	0	0	0	1	0	86	4				
DNAH17	8632	broad.mit.edu	37	17	76490708	76490708	+	Silent	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:76490708G>A	ENST00000585328.1	-	40	6346	c.6222C>T	c.(6220-6222)gaC>gaT	p.D2074D	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000389840.5_Silent_p.D2065D|RP11-559N14.5_ENST00000585969.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2065					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCGAGGCACGTCCAGAGCCG	0.587																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(6193-6195)gaC>gaT		dynein, axonemal, heavy chain 17							83.0	93.0	90.0					17																	76490708		2086	4228	6314	SO:0001819	synonymous_variant	8632							g.chr17:76490708G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6222C>T	17.37:g.76490708G>A						DNAH17_ENST00000585328.1_Silent_p.D2074D|RP11-559N14.5_ENST00000591373.1_RNA	p.D2065D					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		40	6319	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.6195C>T																																																																																					0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		30	130	0	0	0	1	0	30	130				
RB1	5925	broad.mit.edu	37	13	49033926	49033926	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr13:49033926T>G	ENST00000267163.4	+	20	2201	c.2063T>G	c.(2062-2064)cTg>cGg	p.L688R		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	688	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.L688P(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAGCACACCCTGCAGAATGAG	0.443		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		27	Whole gene deletion(15)|Unknown(11)|Substitution - Missense(1)	p.0?(15)|p.?(11)|p.L688P(1)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|eye(2)|adrenal_gland(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM074471	RB1	M		c.(2062-2064)cTg>cGg		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						87.0	82.0	83.0					13																	49033926		2203	4300	6503	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49033926T>G	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2063T>G	13.37:g.49033926T>G	ENSP00000267163:p.Leu688Arg	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.L688R	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	20	2201	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	688			Domain B.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.2063T>G	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501368	0.85176	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.93953	-3.32	5.48	5.48	0.80851	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.000000	0.64402	D	0.000007	D	0.97328	0.9126	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98283	1.0509	10	0.87932	D	0	-7.9392	15.5642	0.76277	0.0:0.0:0.0:1.0	.	688	P06400	RB_HUMAN	R	667;688	ENSP00000267163:L688R	ENSP00000267163:L688R	L	+	2	0	RB1	47931927	1.000000	0.71417	0.990000	0.47175	0.905000	0.53344	7.698000	0.84413	2.086000	0.62901	0.477000	0.44152	CTG		0.443	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			34	1	0	0	0	1	0	34	1				
BZRAP1	9256	broad.mit.edu	37	17	56386693	56386693	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:56386693C>T	ENST00000343736.4	-	22	4103	c.3940G>A	c.(3940-3942)Gag>Aag	p.E1314K	BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1254K|BZRAP1_ENST00000355701.3_Missense_Mutation_p.E1314K			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1314						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGATCTGCTCCAAGATCTCC	0.577																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3940-3942)Gag>Aag		benzodiazapine receptor (peripheral) associated protein 1							53.0	54.0	54.0					17																	56386693		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56386693C>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3940G>A	17.37:g.56386693C>T	ENSP00000345824:p.Glu1314Lys					BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1254K|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E1314K	p.E1314K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			22	4810	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1314					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.3940G>A	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	c	26.6	4.749466	0.89753	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	D;D;D	0.87571	-2.27;-2.27;-2.27	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.61703	1.905	0.46028	D	0.998828	D;D;D	0.89917	1.0;0.998;0.993	D;D;D	0.83275	0.996;0.991;0.942	D	0.92964	0.6391	10	0.66056	D	0.02	.	18.284	0.90108	0.0:1.0:0.0:0.0	.	1314;1254;1314	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	K	1314;1314;1254	ENSP00000347929:E1314K;ENSP00000345824:E1314K;ENSP00000268893:E1254K	ENSP00000268893:E1254K	E	-	1	0	BZRAP1	53741692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.304000	0.78882	2.570000	0.86706	0.558000	0.71614	GAG		0.577	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		42	47	0	0	0	1	0	42	47				
PDZD3	79849	broad.mit.edu	37	11	119057301	119057301	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr11:119057301G>A	ENST00000531114.1	+	2	979	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	PDZD3_ENST00000355547.5_Missense_Mutation_p.V78M|PDZD3_ENST00000392817.2_Missense_Mutation_p.V144M|PDZD3_ENST00000322712.4_Missense_Mutation_p.V78M|PDZD3_ENST00000525131.1_Missense_Mutation_p.V65M			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	144	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GGTGTGCAGGGTGGACCCAGG	0.597																																						ENST00000531114.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14						c.(430-432)Gtg>Atg		PDZ domain containing 3							62.0	50.0	54.0					11																	119057301		2200	4295	6495	SO:0001583	missense	79849				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding	g.chr11:119057301G>A	AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.430G>A	11.37:g.119057301G>A	ENSP00000431164:p.Val144Met					PDZD3_ENST00000355547.5_Missense_Mutation_p.V78M|PDZD3_ENST00000322712.4_Missense_Mutation_p.V78M|PDZD3_ENST00000525131.1_Missense_Mutation_p.V65M|PDZD3_ENST00000392817.2_Missense_Mutation_p.V144M	p.V144M			Q86UT5	NHRF4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)	2	979	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	144			PDZ 1.		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	ENST00000531114.1	37	c.430G>A		.	.	.	.	.	.	.	.	.	.	G	26.3	4.728641	0.89390	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.60424	1.05;0.19;1.05;1.05;0.19	5.28	5.28	0.74379	PDZ/DHR/GLGF (4);	0.074264	0.53938	D	0.000051	T	0.81569	0.4850	M	0.92317	3.295	0.48135	D	0.999598	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.994;0.996	D	0.85673	0.1296	10	0.87932	D	0	-21.9128	16.1461	0.81569	0.0:0.1331:0.8669:0.0	.	65;144;78;78	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	M	65;144;78;78;78;144	ENSP00000434559:V65M;ENSP00000431164:V144M;ENSP00000347742:V78M;ENSP00000327107:V78M;ENSP00000376564:V144M	ENSP00000327107:V78M	V	+	1	0	PDZD3	118562511	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.545000	0.60698	2.755000	0.94549	0.655000	0.94253	GTG		0.597	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791		45	1	0	0	0	1	0	45	1				
CSMD3	114788	broad.mit.edu	37	8	113585824	113585824	+	Silent	SNP	G	G	A	rs202084967		TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr8:113585824G>A	ENST00000297405.5	-	24	4192	c.3948C>T	c.(3946-3948)cgC>cgT	p.R1316R	CSMD3_ENST00000455883.2_Silent_p.R1212R|CSMD3_ENST00000352409.3_Silent_p.R1316R|CSMD3_ENST00000343508.3_Silent_p.R1276R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1316	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGTCAGTCCGCGCATAGATG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G|||	1	0.000199681	0.0	0.0	5008	,	,		15087	0.001		0.0	False		,,,				2504	0.0					ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(3946-3948)cgC>cgT		CUB and Sushi multiple domains 3		G	,,	0,4406		0,0,2203	125.0	125.0	125.0		3636,3948,3828	-0.9	1.0	8		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	1212/3539,1316/3708,1276/3668	113585824	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113585824G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3948C>T	8.37:g.113585824G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Silent_p.R1212R|CSMD3_ENST00000352409.3_Silent_p.R1316R|CSMD3_ENST00000343508.3_Silent_p.R1276R	p.R1316R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			24	4192	-			1316			CUB 7.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.3948C>T	CCDS6315.1																																																																																				0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		26	143	0	0	0	1	0	26	143				
USP26	83844	broad.mit.edu	37	X	132161820	132161820	+	Silent	SNP	A	A	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chrX:132161820A>T	ENST00000511190.1	-	6	898	c.429T>A	c.(427-429)tcT>tcA	p.S143S	USP26_ENST00000406273.1_Silent_p.S143S|USP26_ENST00000370832.1_Silent_p.S143S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	143					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTATCTCAAAAGATTTGCTAC	0.408																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(427-429)tcT>tcA		ubiquitin specific peptidase 26							78.0	56.0	63.0					X																	132161820		2203	4299	6502	SO:0001819	synonymous_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161820A>T	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.429T>A	X.37:g.132161820A>T						USP26_ENST00000406273.1_Silent_p.S143S|USP26_ENST00000370832.1_Silent_p.S143S	p.S143S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	898	-	Acute lymphoblastic leukemia(192;0.000127)		143					B9WRT6|Q5H9H4	Silent	SNP	ENST00000511190.1	37	c.429T>A	CCDS14635.1																																																																																				0.408	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		12	28	0	0	0	1	0	12	28				
SCD	6319	broad.mit.edu	37	10	102108089	102108089	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr10:102108089A>T	ENST00000370355.2	+	2	677	c.296A>T	c.(295-297)tAc>tTc	p.Y99F	RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	99					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TGCAAGTTCTACACCTGGCTT	0.493																																					Colon(67;260 1459 9574 11663)	ENST00000370355.2																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(295-297)tAc>tTc		stearoyl-CoA desaturase (delta-9-desaturase)							128.0	130.0	129.0					10																	102108089		2203	4300	6503	SO:0001583	missense	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102108089A>T	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.296A>T	10.37:g.102108089A>T	ENSP00000359380:p.Tyr99Phe						p.Y99F	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	2	677	+		Colorectal(252;0.0323)	99					B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Missense_Mutation	SNP	ENST00000370355.2	37	c.296A>T	CCDS7493.1	.	.	.	.	.	.	.	.	.	.	A	4.306	0.056035	0.08291	.	.	ENSG00000099194	ENST00000423840;ENST00000370355	T	0.13420	2.59	5.3	4.14	0.48551	.	0.219468	0.32430	N	0.006117	T	0.11324	0.0276	L	0.53617	1.68	0.30594	N	0.761265	B	0.15930	0.015	B	0.16289	0.015	T	0.22347	-1.0219	10	0.14252	T	0.57	-30.7042	5.5614	0.17146	0.6712:0.0:0.0733:0.2555	.	99	O00767	ACOD_HUMAN	F	99	ENSP00000359380:Y99F	ENSP00000359380:Y99F	Y	+	2	0	SCD	102098079	0.001000	0.12720	0.937000	0.37676	0.145000	0.21501	0.868000	0.27982	0.924000	0.37069	0.379000	0.24179	TAC		0.493	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		95	68	0	0	0	1	0	95	68				
OR2A12	346525	broad.mit.edu	37	7	143792722	143792722	+	Silent	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr7:143792722C>T	ENST00000408949.2	+	1	582	c.522C>T	c.(520-522)aaC>aaT	p.N174N		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAAAGATCAACCACTTTTTCT	0.463																																						ENST00000408949.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(520-522)aaC>aaT		olfactory receptor, family 2, subfamily A, member 12							164.0	154.0	157.0					7																	143792722		1967	4151	6118	SO:0001819	synonymous_variant	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792722C>T		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.522C>T	7.37:g.143792722C>T							p.N174N	NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN			1	582	+	Melanoma(164;0.0783)		174					Q6IF43	Silent	SNP	ENST00000408949.2	37	c.522C>T	CCDS43670.1																																																																																				0.463	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			33	72	0	0	0	1	0	33	72				
PRDM1	639	broad.mit.edu	37	6	106552814	106552814	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:106552814C>A	ENST00000369096.4	+	5	1013	c.779C>A	c.(778-780)cCc>cAc	p.P260H	PRDM1_ENST00000369089.3_Missense_Mutation_p.P126H|PRDM1_ENST00000369091.2_Missense_Mutation_p.P224H	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	260					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GACTCCAACCCCTCCAAAGGA	0.468			"""D, N, Mis, F, S"""		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"""D, N, Mis, F, S"""	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(778-780)cCc>cAc		PR domain containing 1, with ZNF domain							230.0	246.0	240.0					6																	106552814		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106552814C>A		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.779C>A	6.37:g.106552814C>A	ENSP00000358092:p.Pro260His					PRDM1_ENST00000369091.2_Missense_Mutation_p.P224H|PRDM1_ENST00000369089.3_Missense_Mutation_p.P126H	p.P260H	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1013	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	260					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.779C>A	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	C	8.091	0.774626	0.16051	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000450060;ENST00000369089	T;T;T;T	0.55930	3.22;3.2;0.49;3.17	5.59	4.64	0.57946	.	0.364591	0.28156	N	0.016389	T	0.17152	0.0412	N	0.12471	0.22	0.09310	N	0.999995	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.03875	-1.0996	10	0.24483	T	0.36	-15.7662	13.7135	0.62682	0.2664:0.7336:0.0:0.0	.	126;260	Q86WM7;O75626	.;PRDM1_HUMAN	H	224;260;224;139;126	ENSP00000358087:P224H;ENSP00000358092:P260H;ENSP00000399772:P139H;ENSP00000358085:P126H	ENSP00000358085:P126H	P	+	2	0	PRDM1	106659507	0.002000	0.14202	0.996000	0.52242	0.867000	0.49689	1.510000	0.35790	2.640000	0.89533	0.655000	0.94253	CCC		0.468	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			201	223	1	0	7.15978e-92	1	8.33798e-92	201	223				
LMOD2	442721	broad.mit.edu	37	7	123302950	123302950	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr7:123302950G>T	ENST00000458573.2	+	2	1467	c.1310G>T	c.(1309-1311)aGg>aTg	p.R437M	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	437	Pro-rich.					cytoskeleton (GO:0005856)											tcttcccaaaggctgccacca	0.572																																						ENST00000458573.2																			0											c.(1309-1311)aGg>aTg		leiomodin 2 (cardiac)							16.0	16.0	16.0					7																	123302950		1891	4080	5971	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302950G>T	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.1310G>T	7.37:g.123302950G>T	ENSP00000411932:p.Arg437Met					LMOD2_ENST00000456238.2_Intron	p.R437M	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			2	1467	+			437			Pro-rich.		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.1310G>T	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	G	2.074	-0.412368	0.04799	.	.	ENSG00000170807	ENST00000458573;ENST00000444702	T	0.42900	0.96	5.33	-8.57	0.00900	.	.	.	.	.	T	0.15046	0.0363	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16305	-1.0407	9	0.44086	T	0.13	.	1.0724	0.01624	0.3628:0.1482:0.113:0.376	.	437	Q6P5Q4	LMOD2_HUMAN	M	437;397	ENSP00000411932:R437M	ENSP00000390902:R397M	R	+	2	0	LMOD2	123090186	0.300000	0.24435	0.000000	0.03702	0.006000	0.05464	0.225000	0.17757	-1.810000	0.01230	-0.373000	0.07131	AGG		0.572	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			7	2	1	0	8.12818e-05	1	8.59532e-05	7	2				
UACA	55075	broad.mit.edu	37	15	70959158	70959158	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr15:70959158G>C	ENST00000322954.6	-	16	4050	c.3865C>G	c.(3865-3867)Cag>Gag	p.Q1289E	UACA_ENST00000560441.1_Missense_Mutation_p.Q1274E|UACA_ENST00000379983.2_Missense_Mutation_p.Q1276E|UACA_ENST00000539319.1_Missense_Mutation_p.Q1180E	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1289					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CGTTCCTTCTGATCCTTAATT	0.348																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(3865-3867)Cag>Gag		uveal autoantigen with coiled-coil domains and ankyrin repeats							176.0	156.0	163.0					15																	70959158		2199	4298	6497	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70959158G>C	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3865C>G	15.37:g.70959158G>C	ENSP00000314556:p.Gln1289Glu					UACA_ENST00000560441.1_Missense_Mutation_p.Q1274E|UACA_ENST00000379983.2_Missense_Mutation_p.Q1276E|UACA_ENST00000539319.1_Missense_Mutation_p.Q1180E	p.Q1289E	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	4050	-			1289					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.3865C>G	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266070	0.80358	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.37235	1.21;1.22;1.69	5.85	5.85	0.93711	.	0.202030	0.35235	N	0.003360	T	0.58148	0.2102	M	0.70595	2.14	0.46298	D	0.99897	D;P;D;D	0.57257	0.961;0.934;0.962;0.979	P;P;P;P	0.58077	0.74;0.554;0.554;0.832	T	0.58668	-0.7596	10	0.66056	D	0.02	-19.5858	20.1577	0.98120	0.0:0.0:1.0:0.0	.	1180;1289;1289;1276	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	E	1289;1276;1180	ENSP00000314556:Q1289E;ENSP00000369319:Q1276E;ENSP00000438667:Q1180E	ENSP00000314556:Q1289E	Q	-	1	0	UACA	68746212	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.287000	0.78681	2.767000	0.95098	0.655000	0.94253	CAG		0.348	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			7	50	0	0	0	1	0	7	50				
FFAR2	2867	broad.mit.edu	37	19	35941555	35941555	+	Silent	SNP	C	C	T	rs201365846		TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr19:35941555C>T	ENST00000599180.2	+	2	1019	c.939C>T	c.(937-939)gaC>gaT	p.D313D	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.D313D			O15552	FFAR2_HUMAN	free fatty acid receptor 2	313					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAAATGAGGACAGGGGTGTGG	0.587													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18196	0.0		0.0	False		,,,				2504	0.0				GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(937-939)gaC>gaT		free fatty acid receptor 2		C		0,4406		0,0,2203	57.0	60.0	59.0		939	3.4	0.1	19		59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FFAR2	NM_005306.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		313/331	35941555	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35941555C>T	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.939C>T	19.37:g.35941555C>T						FFAR2_ENST00000246549.2_Silent_p.D313D|FFAR2_ENST00000601590.1_Intron	p.D313D			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	1019	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		313					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	c.939C>T	CCDS12461.1																																																																																				0.587	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		16	59	0	0	0	1	0	16	59				
ALG12	79087	broad.mit.edu	37	22	50297568	50297568	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr22:50297568A>C	ENST00000330817.6	-	10	1658	c.1385T>G	c.(1384-1386)cTg>cGg	p.L462R	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	462					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GGTCAGGTTCAGACTCACACC	0.657																																						ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(1384-1386)cTg>cGg		ALG12, alpha-1,6-mannosyltransferase							71.0	75.0	74.0					22																	50297568		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50297568A>C	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1385T>G	22.37:g.50297568A>C	ENSP00000333813:p.Leu462Arg						p.L462R	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	10	1658	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	462					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.1385T>G	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.477358	0.84640	.	.	ENSG00000182858	ENST00000330817	D	0.83163	-1.69	5.31	4.26	0.50523	.	0.151129	0.45361	D	0.000376	D	0.84014	0.5379	M	0.68593	2.085	0.41890	D	0.990367	P	0.48834	0.916	P	0.48795	0.59	D	0.86194	0.1614	10	0.87932	D	0	-11.4463	10.996	0.47575	0.9243:0.0:0.0757:0.0	.	462	Q9BV10	ALG12_HUMAN	R	462	ENSP00000333813:L462R	ENSP00000333813:L462R	L	-	2	0	ALG12	48683572	1.000000	0.71417	0.946000	0.38457	0.994000	0.84299	6.072000	0.71238	2.013000	0.59113	0.533000	0.62120	CTG		0.657	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		11	48	0	0	0	1	0	11	48				
DYNC2H1	79659	broad.mit.edu	37	11	103182702	103182702	+	Silent	SNP	T	T	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr11:103182702T>C	ENST00000375735.2	+	79	11733	c.11589T>C	c.(11587-11589)gcT>gcC	p.A3863A	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.A3870A	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3863	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAGCTCATGCTCTCTTCAGTC	0.363																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(11587-11589)gcT>gcC		dynein, cytoplasmic 2, heavy chain 1							119.0	117.0	117.0					11																	103182702		1855	4100	5955	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103182702T>C	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11589T>C	11.37:g.103182702T>C						DYNC2H1_ENST00000398093.3_Silent_p.A3870A|DYNC2H1_ENST00000334267.7_Intron	p.A3863A	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	79	11733	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3863			AAA 6 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.11589T>C	CCDS53701.1																																																																																				0.363	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		45	4	0	0	0	1	0	45	4				
IL6ST	3572	broad.mit.edu	37	5	55265552	55265552	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr5:55265552C>T	ENST00000381298.2	-	4	508	c.196G>A	c.(196-198)Gtc>Atc	p.V66I	IL6ST_ENST00000536319.1_Missense_Mutation_p.V66I|IL6ST_ENST00000381294.3_Missense_Mutation_p.V66I|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000522633.2_Missense_Mutation_p.V66I|IL6ST_ENST00000502326.3_Missense_Mutation_p.V66I|IL6ST_ENST00000336909.5_Missense_Mutation_p.V66I|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000381287.4_Missense_Mutation_p.V66I|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000396816.1_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	66	Ig-like C2-type.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GTTTTCCAGACAATGTAATTA	0.318			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(196-198)Gtc>Atc		interleukin 6 signal transducer (gp130, oncostatin M receptor)							109.0	102.0	104.0					5																	55265552		2203	4299	6502	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55265552C>T	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.196G>A	5.37:g.55265552C>T	ENSP00000370698:p.Val66Ile					IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.V66I|IL6ST_ENST00000502326.3_Missense_Mutation_p.V66I|IL6ST_ENST00000522633.2_Missense_Mutation_p.V66I|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.V66I|IL6ST_ENST00000381294.3_Missense_Mutation_p.V66I|IL6ST_ENST00000381287.4_Missense_Mutation_p.V66I|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381286.3_Intron	p.V66I	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			4	508	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	66			Ig-like C2-type.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.196G>A	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	C	6.910	0.537507	0.13188	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.86	-1.63	0.08345	Fibronectin, type III (1);Immunoglobulin C2-set-like, ligand-binding (1);Immunoglobulin-like fold (1);	0.977214	0.08447	N	0.944580	T	0.56949	0.2020	N	0.13098	0.295	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.28933	-1.0028	10	0.20046	T	0.44	.	7.1729	0.25728	0.5306:0.124:0.0:0.3455	.	66;66;66	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	I	66	ENSP00000370698:V66I;ENSP00000338799:V66I;ENSP00000370694:V66I;ENSP00000370687:V66I;ENSP00000444456:V66I;ENSP00000435399:V66I	ENSP00000338799:V66I	V	-	1	0	IL6ST	55301309	1.000000	0.71417	0.870000	0.34147	0.970000	0.65996	0.917000	0.28665	-0.533000	0.06323	-1.079000	0.02226	GTC		0.318	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		13	35	0	0	0	1	0	13	35				
GPR137	56834	broad.mit.edu	37	11	64056826	64056826	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr11:64056826C>T	ENST00000313074.3	+	7	1348	c.1243C>T	c.(1243-1245)Ccg>Tcg	p.P415S	GPR137_ENST00000438980.2_3'UTR|KCNK4_ENST00000538767.1_5'Flank|GPR137_ENST00000411458.1_Missense_Mutation_p.P473S|GPR137_ENST00000377702.4_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000422670.2_5'Flank|GPR137_ENST00000539851.1_3'UTR|KCNK4_ENST00000394525.2_5'Flank	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	415						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGAGCTTGTGCCGTCCCCCTA	0.647																																						ENST00000411458.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(1417-1419)Ccg>Tcg		G protein-coupled receptor 137							61.0	61.0	61.0					11																	64056826		2201	4297	6498	SO:0001583	missense	56834					integral to membrane		g.chr11:64056826C>T	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.1243C>T	11.37:g.64056826C>T	ENSP00000321698:p.Pro415Ser					GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000438980.2_3'UTR|GPR137_ENST00000313074.3_Missense_Mutation_p.P415S|GPR137_ENST00000377702.4_3'UTR	p.P473S	NM_001170726.1	NP_001164197.1	Q96N19	G137A_HUMAN			9	1445	+			415					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	37	c.1417C>T	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	C	9.310	1.055330	0.19907	.	.	ENSG00000173264	ENST00000411458;ENST00000313074	T;T	0.51574	0.7;0.85	5.27	3.38	0.38709	.	1.323320	0.05536	N	0.564845	T	0.30293	0.0760	N	0.08118	0	0.58432	D	0.999993	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.06991	-1.0796	10	0.49607	T	0.09	-0.0272	7.3883	0.26895	0.0:0.7394:0.1696:0.091	.	473;415	B4DTG7;Q96N19	.;G137A_HUMAN	S	473;415	ENSP00000411827:P473S;ENSP00000321698:P415S	ENSP00000321698:P415S	P	+	1	0	GPR137	63813402	0.698000	0.27777	0.584000	0.28653	0.551000	0.35334	1.531000	0.36018	0.718000	0.32166	0.561000	0.74099	CCG		0.647	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		5	98	0	0	0	1	0	5	98				
CNTNAP4	85445	broad.mit.edu	37	16	76555943	76555943	+	Silent	SNP	A	A	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr16:76555943A>T	ENST00000476707.1	+	16	2692	c.2553A>T	c.(2551-2553)acA>acT	p.T851T	CNTNAP4_ENST00000478060.1_Silent_p.T775T|CNTNAP4_ENST00000307431.8_Silent_p.T847T|CNTNAP4_ENST00000377504.4_Silent_p.T799T|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	848	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGCTCCGACAGTAGTGACTT	0.453																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(2539-2541)acA>acT		contactin associated protein-like 4							177.0	174.0	175.0					16																	76555943		1955	4172	6127	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76555943A>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2553A>T	16.37:g.76555943A>T						CNTNAP4_ENST00000377504.4_Silent_p.T799T|CNTNAP4_ENST00000478060.1_Silent_p.T775T|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.T851T	p.T847T	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			18	2926	+			848			Laminin G-like 3.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.2541A>T																																																																																					0.453	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		47	103	0	0	0	1	0	47	103				
STX7	8417	broad.mit.edu	37	6	132792624	132792624	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:132792624A>C	ENST00000367941.2	-	5	478	c.365T>G	c.(364-366)gTa>gGa	p.V122G	STX7_ENST00000448348.3_5'UTR|STX7_ENST00000367937.4_Missense_Mutation_p.V122G	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	122					intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		ACTGGCTCTTACTCGAGCAAC	0.428																																						ENST00000367941.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19						c.(364-366)gTa>gGa		syntaxin 7							139.0	132.0	134.0					6																	132792624		2203	4300	6503	SO:0001583	missense	8417				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity	g.chr6:132792624A>C	U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.365T>G	6.37:g.132792624A>C	ENSP00000356918:p.Val122Gly					STX7_ENST00000448348.3_5'UTR|STX7_ENST00000367937.4_Missense_Mutation_p.V122G	p.V122G	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)	5	478	-	Breast(56;0.0615)		122					E1P579|Q5SZW2|Q96ES9	Missense_Mutation	SNP	ENST00000367941.2	37	c.365T>G	CCDS5153.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252098	0.80135	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000309255;ENST00000367937	T;T;T	0.22743	1.94;1.94;1.94	5.93	4.78	0.61160	t-SNARE (1);	0.000000	0.85682	D	0.000000	T	0.19167	0.0460	M	0.65975	2.015	0.80722	D	1	P	0.52316	0.952	P	0.52189	0.692	T	0.03394	-1.1041	10	0.22706	T	0.39	-13.6617	11.8104	0.52179	0.9319:0.0:0.068:0.0	.	122	O15400	STX7_HUMAN	G	122;122;77;122	ENSP00000356918:V122G;ENSP00000412202:V122G;ENSP00000356914:V122G	ENSP00000309600:V77G	V	-	2	0	STX7	132834317	1.000000	0.71417	0.988000	0.46212	0.999000	0.98932	6.819000	0.75262	1.076000	0.40961	0.533000	0.62120	GTA		0.428	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2			38	55	0	0	0	1	0	38	55				
RD3	343035	broad.mit.edu	37	1	211652494	211652494	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:211652494G>A	ENST00000367002.4	-	3	1635	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	158					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GGCGAGATGCGCGCGCGGGTC	0.692																																						ENST00000367002.4																			0				central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(472-474)Cgc>Tgc		retinal degeneration 3							27.0	25.0	26.0					1																	211652494		2202	4297	6499	SO:0001583	missense	343035				response to stimulus|visual perception			g.chr1:211652494G>A	AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"""chromosome 1 open reading frame 36"""	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.472C>T	1.37:g.211652494G>A	ENSP00000355969:p.Arg158Cys					RD3_ENST00000484910.1_5'UTR	p.R158C	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)	3	1635	-			158					A8K595	Missense_Mutation	SNP	ENST00000367002.4	37	c.472C>T	CCDS1498.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973135	0.74246	.	.	ENSG00000198570	ENST00000367002	T	0.14391	2.51	4.33	4.33	0.51752	.	0.191869	0.42294	D	0.000731	T	0.32585	0.0834	M	0.71581	2.175	0.50813	D	0.999892	D	0.89917	1.0	D	0.63597	0.916	T	0.07121	-1.0789	10	0.87932	D	0	-23.7011	12.3752	0.55275	0.0:0.0:0.7859:0.2141	.	158	Q7Z3Z2	RD3_HUMAN	C	158	ENSP00000355969:R158C	ENSP00000355969:R158C	R	-	1	0	RD3	209719117	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.559000	0.53756	2.131000	0.65755	0.555000	0.69702	CGC		0.692	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089837.1	NM_183059		9	31	0	0	0	1	0	9	31				
MT-CO1	4512	broad.mit.edu	37	M	3242	3242	+	5'Flank	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chrM:3242G>A	ENST00000361624.2	+	0	0				MT-TM_ENST00000387377.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TL1_ENST00000386347.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						ttaagatggcagagcccggta	0.433																																						ENST00000386347.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:3242G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3242G>A	Exception_encountered													0	13	+								Q34770	RNA	SNP	ENST00000361624.2	37																																																																																						0.433	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		92	6	0	0	0	1	0	92	6				
KMT2D	8085	broad.mit.edu	37	12	49415614	49415614	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr12:49415614G>C	ENST00000301067.7	-	54	16562	c.16563C>G	c.(16561-16563)caC>caG	p.H5521Q	RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000548065.1_5'Flank|RP11-386G11.5_ENST00000547866.1_RNA	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5521	Post-SET. {ECO:0000255|PROSITE- ProRule:PRU00155}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGGGGATCTTGTGCTGATCGT	0.512																																						ENST00000301067.7																			0											c.(16561-16563)caC>caG		lysine (K)-specific methyltransferase 2D							74.0	73.0	73.0					12																	49415614		1957	4157	6114	SO:0001583	missense	8085							g.chr12:49415614G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16563C>G	12.37:g.49415614G>C	ENSP00000301067:p.His5521Gln						p.H5521Q	NM_003482.3	NP_003473.3					54	16562	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.16563C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	g	10.71	1.427720	0.25726	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.85171	-1.95;-1.95	4.31	4.31	0.51392	Post-SET domain (2);	0.000000	0.38164	N	0.001798	T	0.82001	0.4942	N	0.03000	-0.44	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.87676	0.2544	10	0.87932	D	0	.	16.1483	0.81586	0.0:0.0:1.0:0.0	.	5521	O14686	MLL2_HUMAN	Q	5521;202	ENSP00000301067:H5521Q;ENSP00000435714:H202Q	ENSP00000301067:H5521Q	H	-	3	2	MLL2	47701881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.626000	0.83164	2.423000	0.82170	0.456000	0.33151	CAC		0.512	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			13	42	0	0	0	1	0	13	42				
ATG9B	285973	broad.mit.edu	37	7	150715385	150715385	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr7:150715385C>T	ENST00000377974.2	-	7	1943	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	ATG9B_ENST00000444312.1_Missense_Mutation_p.R109Q|ATG9B_ENST00000605938.1_Missense_Mutation_p.R623Q|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	623					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCACCGCTCGGTACTGCAG	0.711											OREG0018444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000605938.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14						c.(1867-1869)cGa>cAa		autophagy related 9B							12.0	16.0	15.0					7																	150715385		1973	4121	6094	SO:0001583	missense	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150715385C>T	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.1868G>A	7.37:g.150715385C>T	ENSP00000475005:p.Arg623Gln		OREG0018444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1734	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.R623Q|ATG9B_ENST00000444312.1_Missense_Mutation_p.R109Q	p.R623Q	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	7	1943	-	all_neural(206;0.219)		623					A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37	c.1868G>A		.	.	.	.	.	.	.	.	.	.	C	18.81	3.702292	0.68501	.	.	ENSG00000248602	ENST00000377974;ENST00000444312;ENST00000397266	.	.	.	4.61	2.64	0.31445	.	0.066780	0.56097	D	0.000021	T	0.52092	0.1713	.	.	.	.	.	.	D	0.63046	0.992	P	0.55667	0.781	T	0.63418	-0.6642	7	0.72032	D	0.01	-9.3087	5.0002	0.14261	0.0:0.6604:0.0:0.3396	.	623	Q674R7	ATG9B_HUMAN	Q	623;109;623	.	ENSP00000444232:R623Q	R	-	2	0	AC010973.1	150346318	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	5.635000	0.67841	1.174000	0.42811	0.655000	0.94253	CGA		0.711	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		12	27	0	0	0	1	0	12	27				
TREML2	79865	broad.mit.edu	37	6	41162265	41162265	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:41162265A>C	ENST00000483722.1	-	3	868	c.683T>G	c.(682-684)aTc>aGc	p.I228S		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	228					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTTAGTGGAGATGGATTCTGG	0.622																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(682-684)aTc>aGc		triggering receptor expressed on myeloid cells-like 2							95.0	92.0	93.0					6																	41162265		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41162265A>C	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.683T>G	6.37:g.41162265A>C	ENSP00000418767:p.Ile228Ser						p.I228S	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			3	868	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		228					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.683T>G	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	A	11.52	1.664647	0.29604	.	.	ENSG00000112195	ENST00000483722	T	0.06218	3.33	4.26	-5.09	0.02920	.	1.747850	0.03276	N	0.185489	T	0.01976	0.0062	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.47420	-0.9119	10	0.54805	T	0.06	-0.7692	6.7839	0.23662	0.2682:0.0:0.5845:0.1473	.	228	Q5T2D2	TRML2_HUMAN	S	228	ENSP00000418767:I228S	ENSP00000418767:I228S	I	-	2	0	TREML2	41270243	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-0.321000	0.08018	-1.105000	0.03011	0.523000	0.50628	ATC		0.622	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		21	18	0	0	0	1	0	21	18				
SI	6476	broad.mit.edu	37	3	164704992	164704992	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:164704992T>G	ENST00000264382.3	-	45	5193	c.5131A>C	c.(5131-5133)Att>Ctt	p.I1711L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1711	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GCAGCAACAATGAGCTTCATG	0.343										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(5131-5133)Att>Ctt		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						150.0	147.0	148.0					3																	164704992		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164704992T>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5131A>C	3.37:g.164704992T>G	ENSP00000264382:p.Ile1711Leu	HNSCC(35;0.089)					p.I1711L	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			45	5193	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1711			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.5131A>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	11.21	1.571635	0.28003	.	.	ENSG00000090402	ENST00000264382	D	0.88509	-2.39	5.28	5.28	0.74379	.	0.052622	0.85682	D	0.000000	D	0.83216	0.5206	L	0.33245	0.995	0.31411	N	0.675493	B	0.12013	0.005	B	0.15484	0.013	T	0.78600	-0.2141	10	0.25106	T	0.35	.	15.0431	0.71807	0.0:0.0:0.0:1.0	.	1711	P14410	SUIS_HUMAN	L	1711	ENSP00000264382:I1711L	ENSP00000264382:I1711L	I	-	1	0	SI	166187686	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	4.787000	0.62432	2.210000	0.71456	0.533000	0.62120	ATT		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		12	29	0	0	0	1	0	12	29				
CSMD3	114788	broad.mit.edu	37	8	113358408	113358408	+	Silent	SNP	A	A	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr8:113358408A>C	ENST00000297405.5	-	41	6604	c.6360T>G	c.(6358-6360)ggT>ggG	p.G2120G	CSMD3_ENST00000455883.2_Silent_p.G2016G|CSMD3_ENST00000352409.3_Silent_p.G2050G|CSMD3_ENST00000343508.3_Silent_p.G2080G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2120	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAGGATCACACCACTGAAGT	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(6358-6360)ggT>ggG		CUB and Sushi multiple domains 3							109.0	109.0	109.0					8																	113358408		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113358408A>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6360T>G	8.37:g.113358408A>C		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Silent_p.G2016G|CSMD3_ENST00000352409.3_Silent_p.G2050G|CSMD3_ENST00000343508.3_Silent_p.G2080G	p.G2120G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			41	6604	-			2120			CUB 12.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.6360T>G	CCDS6315.1																																																																																				0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		71	48	0	0	0	1	0	71	48				
NOTCH1	4851	broad.mit.edu	37	9	139400313	139400313	+	Nonsense_Mutation	SNP	A	A	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr9:139400313A>T	ENST00000277541.6	-	25	4110	c.4035T>A	c.(4033-4035)tgT>tgA	p.C1345*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1345	EGF-like 34. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTCATTCTCACACGTGGCGC	0.726			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(4033-4035)tgT>tgA		notch 1							7.0	10.0	9.0					9																	139400313		1803	3759	5562	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139400313A>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4035T>A	9.37:g.139400313A>T	ENSP00000277541:p.Cys1345*	HNSCC(8;0.001)					p.C1345*	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	25	4110	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1345			EGF-like 34.		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.4035T>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	A	39	7.315132	0.98207	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.73	-6.75	0.01738	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2482	0.49008	0.2726:0.1215:0.6059:0.0	.	.	.	.	X	1345	.	ENSP00000277541:C1345X	C	-	3	2	NOTCH1	138520134	0.011000	0.17503	0.207000	0.23584	0.082000	0.17680	-0.618000	0.05578	-1.705000	0.01406	-0.307000	0.09154	TGT		0.726	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		9	2	0	0	0	1	0	9	2				
DNAH1	25981	broad.mit.edu	37	3	52431061	52431061	+	Splice_Site	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:52431061G>A	ENST00000420323.2	+	73	12048		c.e73+1			NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1						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)		CGACCTCCACGTGAGTCCAGC	0.632																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.e73+1		dynein, axonemal, heavy chain 1							19.0	19.0	19.0					3																	52431061		1957	4139	6096	SO:0001630	splice_region_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.chr3:52431061G>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.11787+1G>A	3.37:g.52431061G>A								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)	73	12048	+								B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Splice_Site	SNP	ENST00000420323.2	37		CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849392	0.32699	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9111	0.86140	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH1	52406101	1.000000	0.71417	0.864000	0.33941	0.069000	0.16628	4.108000	0.57817	2.202000	0.70862	0.655000	0.94253	.		0.632	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	Intron	6	10	0	0	0	1	0	6	10				
ANXA6	309	broad.mit.edu	37	5	150512081	150512081	+	Missense_Mutation	SNP	C	C	G	rs370325414		TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr5:150512081C>G	ENST00000354546.5	-	10	919	c.692G>C	c.(691-693)cGa>cCa	p.R231P	ANXA6_ENST00000523714.1_Missense_Mutation_p.R199P|ANXA6_ENST00000356496.5_Missense_Mutation_p.R231P|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	231					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.R231Q(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCTCCCCTCGGATGCTGGC	0.552																																						ENST00000354546.5																			1	Substitution - Missense(1)	p.R231Q(1)	ovary(1)	endometrium(2)|kidney(1)|lung(9)	12						c.(691-693)cGa>cCa		annexin A6							50.0	52.0	51.0					5																	150512081		1917	4128	6045	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150512081C>G	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.692G>C	5.37:g.150512081C>G	ENSP00000346550:p.Arg231Pro					ANXA6_ENST00000523714.1_Missense_Mutation_p.R199P|ANXA6_ENST00000356496.5_Missense_Mutation_p.R231P|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000377751.5_Intron	p.R231P	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	919	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	231					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.692G>C	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389593	0.82902	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000356496;ENST00000540153	T;T;T	0.03386	3.95;3.95;3.95	5.31	5.31	0.75309	Annexin repeat, conserved site (1);	0.269315	0.37715	N	0.001970	T	0.11067	0.0270	L	0.53671	1.685	0.47737	D	0.999504	B;D	0.54601	0.008;0.967	B;P	0.54590	0.016;0.756	T	0.00391	-1.1769	10	0.66056	D	0.02	.	15.8962	0.79336	0.0:1.0:0.0:0.0	.	231;231	A6NN80;P08133	.;ANXA6_HUMAN	P	231;199;231;105	ENSP00000346550:R231P;ENSP00000430517:R199P;ENSP00000348889:R231P	ENSP00000346550:R231P	R	-	2	0	ANXA6	150492274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.008000	0.57103	2.487000	0.83934	0.650000	0.86243	CGA		0.552	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		9	19	0	0	0	1	0	9	19				
MX2	4600	broad.mit.edu	37	21	42775253	42775253	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr21:42775253C>G	ENST00000330714.3	+	12	1817	c.1633C>G	c.(1633-1635)Ctt>Gtt	p.L545V		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	545					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				ATTTTTCAACCTTAACCAAAC	0.393																																						ENST00000330714.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(1633-1635)Ctt>Gtt		myxovirus (influenza virus) resistance 2 (mouse)							75.0	72.0	73.0					21																	42775253		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42775253C>G		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1633C>G	21.37:g.42775253C>G	ENSP00000333657:p.Leu545Val						p.L545V	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			12	1817	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	545					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.1633C>G	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929715	0.52759	.	.	ENSG00000183486	ENST00000330714	D	0.84070	-1.8	3.63	3.63	0.41609	Dynamin central domain (1);	0.000000	0.64402	D	0.000001	D	0.91267	0.7247	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92372	0.5906	10	0.87932	D	0	.	11.518	0.50534	0.0:1.0:0.0:0.0	.	545	P20592	MX2_HUMAN	V	545	ENSP00000333657:L545V	ENSP00000333657:L545V	L	+	1	0	MX2	41697123	1.000000	0.71417	0.148000	0.22405	0.020000	0.10135	4.118000	0.57884	1.976000	0.57569	0.655000	0.94253	CTT		0.393	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		33	28	0	0	0	1	0	33	28				
SARM1	23098	broad.mit.edu	37	17	26715423	26715423	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:26715423G>C	ENST00000457710.3	+	7	2157	c.1686G>C	c.(1684-1686)gaG>gaC	p.E562D	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	596	TIR.				innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TTGATGTGGAGAAGCTGGAAG	0.547																																						ENST00000457710.3																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1684-1686)gaG>gaC		sterile alpha and TIR motif containing 1							113.0	95.0	101.0					17																	26715423		2203	4300	6503	SO:0001583	missense	23098				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity	g.chr17:26715423G>C	AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"""Sterile alpha motif (SAM) domain containing"""	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.1686G>C	17.37:g.26715423G>C	ENSP00000406738:p.Glu562Asp					SARM1_ENST00000379061.4_3'UTR	p.E562D	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	7	2157	+	all_lung(13;0.000533)|Lung NSC(42;0.00171)		596			TIR.		O60277|Q7LGG3|Q9NXY5	Missense_Mutation	SNP	ENST00000457710.3	37	c.1686G>C		.	.	.	.	.	.	.	.	.	.	G	16.20	3.056676	0.55325	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	5.39	2.19	0.27852	Toll/interleukin-1 receptor homology (TIR) domain (2);	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	.	.	.	0.47659	D	0.999489	D	0.76494	0.999	D	0.80764	0.994	T	0.62774	-0.6783	8	0.22109	T	0.4	-33.7307	9.7377	0.40397	0.2449:0.0:0.7551:0.0	.	596	Q6SZW1	SARM1_HUMAN	D	594;562	.	ENSP00000003834:E562D	E	+	3	2	SARM1	23739550	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.408000	0.52651	0.840000	0.34995	0.655000	0.94253	GAG		0.547	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000255679.3	NM_015077		30	43	0	0	0	1	0	30	43				
ZZZ3	26009	broad.mit.edu	37	1	78044547	78044547	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:78044547C>A	ENST00000370801.3	-	11	2565	c.2090G>T	c.(2089-2091)aGc>aTc	p.S697I	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.S203I	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	697	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.				chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CTGTACTCGGCTGGCAACCTA	0.343																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(2089-2091)aGc>aTc		zinc finger, ZZ-type containing 3							66.0	67.0	66.0					1																	78044547		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78044547C>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2090G>T	1.37:g.78044547C>A	ENSP00000359837:p.Ser697Ile					ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.S203I	p.S697I	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			11	2565	-			697			HTH myb-type.		B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.2090G>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941585	0.92526	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	T;T	0.53857	0.6;0.6	5.84	5.84	0.93424	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.040117	0.85682	D	0.000000	T	0.77025	0.4070	M	0.90705	3.14	0.80722	D	1	P;D;D	0.89917	0.899;1.0;0.988	P;D;P	0.87578	0.667;0.998;0.885	T	0.79955	-0.1585	10	0.87932	D	0	.	20.5276	0.99231	0.0:1.0:0.0:0.0	.	203;697;696	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	I	697;203	ENSP00000359837:S697I;ENSP00000359834:S203I	ENSP00000359834:S203I	S	-	2	0	ZZZ3	77817135	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.378000	0.79679	2.937000	0.99478	0.650000	0.86243	AGC		0.343	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		5	10	1	0	1.23904e-05	1	1.35704e-05	5	10				
C8orf76	84933	broad.mit.edu	37	8	124250155	124250155	+	Silent	SNP	G	G	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr8:124250155G>T	ENST00000276704.4	-	3	291	c.240C>A	c.(238-240)atC>atA	p.I80I	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Silent_p.I48I	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	80										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ATTTTTCAGAGATACTGGAAT	0.423																																						ENST00000276704.4																			0				NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17						c.(238-240)atC>atA		chromosome 8 open reading frame 76							60.0	58.0	59.0					8																	124250155		2203	4300	6503	SO:0001819	synonymous_variant	84933						binding	g.chr8:124250155G>T	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.240C>A	8.37:g.124250155G>T						ZHX1-C8ORF76_ENST00000357082.4_Silent_p.I48I|C8orf76_ENST00000521310.1_5'UTR	p.I80I	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	291	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		80					Q53HC1	Silent	SNP	ENST00000276704.4	37	c.240C>A	CCDS6341.1																																																																																				0.423	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		34	45	1	0	3.11337e-16	1	3.49305e-16	34	45				
LINC01141	339505	broad.mit.edu	37	1	20732487	20732488	+	lincRNA	INS	-	-	G	rs386353838|rs199999877|rs71585759	byFrequency	TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:20732487_20732488insG	ENST00000426428.1	-	0	282					NR_033887.1																						TACCGTGGGGAGGGGGGATTAG	0.584													GGGGGGG|GGGGGG|GGGGGGG|deletion	2379	0.47504	0.3502	0.4971	5008	,	,		17670	0.7371		0.3996	False		,,,				2504	0.4356					ENST00000426428.1																			0																																																			0							g.chr1:20732487_20732488insG																													1.37:g.20732493_20732493dupG								NR_033887.1						0	282	-									RNA	INS	ENST00000426428.1	37																																																																																						0.584	RP4-749H3.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000007957.1			3	4						3	4	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142640998	142640999	+	lincRNA	DEL	AA	AA	-			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:142640998_142640999delAA	ENST00000610091.1	-	0	3560				RP11-417J8.3_ENST00000426408.1_lincRNA																							gcaacatggcaaaaccctctct	0.5																																						ENST00000369381.2																			0																																																			0							g.chr1:142640998_142640999delAA																													1.37:g.142641000_142641001delAA						RP11-417J8.3_ENST00000426408.1_lincRNA								0	2507	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.500	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			2	4						2	4	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109259	145109260	+	RNA	INS	-	-	A	rs61810755|rs11386827		TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:145109259_145109260insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											cactccagcccgggggcagagc	0.48																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109259_145109260insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109259_145109260insA										O75396	SC22B_HUMAN			0	512	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.480	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		3	6						3	6	---	---	---	---
C1orf43	25912	broad.mit.edu	37	1	154179938	154179939	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:154179938_154179939delAC	ENST00000368521.5	-	7	950_951	c.752_753delGT	c.(751-753)agtfs	p.S251fs	C1orf43_ENST00000350592.3_Frame_Shift_Del_p.S217fs|C1orf43_ENST00000362076.4_Frame_Shift_Del_p.S199fs|C1orf189_ENST00000368525.3_5'Flank|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000368519.1_Frame_Shift_Del_p.S233fs	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	251						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GTCACAGAGTACTCTCCAATGT	0.51																																						ENST00000368521.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10						c.(751-753)afs		chromosome 1 open reading frame 43																																				SO:0001589	frameshift_variant	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154179938_154179939delAC	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.752_753delGT	1.37:g.154179938_154179939delAC	ENSP00000357507:p.Ser251fs					C1orf43_ENST00000350592.3_Frame_Shift_Del_p.S217fs|C1orf43_ENST00000368519.1_Frame_Shift_Del_p.S233fs|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000362076.4_Frame_Shift_Del_p.S199fs	p.S251fs	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN			7	950_951	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		251					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Frame_Shift_Del	DEL	ENST00000368521.5	37	c.752_753delGT	CCDS41404.1																																																																																				0.510	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		9	149						9	149	---	---	---	---
FMNL2	114793	broad.mit.edu	37	2	153415331	153415331	+	Frame_Shift_Del	DEL	C	C	-	rs369392464		TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr2:153415331delC	ENST00000288670.9	+	5	804	c.437delC	c.(436-438)gcgfs	p.A146fs		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	146	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GCACAGTACGCGGTAACGTAA	0.378																																						ENST00000288670.9																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(436-438)ggfs		formin-like 2							106.0	104.0	105.0					2																	153415331		1887	4122	6009	SO:0001589	frameshift_variant	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153415331delC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.437delC	2.37:g.153415331delC	ENSP00000288670:p.Ala146fs						p.A146fs	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN			5	804	+			146			GBD/FH3.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Frame_Shift_Del	DEL	ENST00000288670.9	37	c.437delC	CCDS46429.1																																																																																				0.378	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		6	13						6	13	---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162865080	162865089	+	Frame_Shift_Del	DEL	TCCCACCGGG	TCCCACCGGG	-	rs138430103	byFrequency	TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr2:162865080_162865089delTCCCACCGGG	ENST00000360534.3	-	22	2530_2539	c.1970_1979delCCCGGTGGGA	c.(1969-1980)tcccggtgggagfs	p.SRWE657fs	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	657					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	ACCATAGTACTCCCACCGGGATACAGGCGC	0.471																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(1969-1980)tgfs		dipeptidyl-peptidase 4	Sitagliptin(DB01261)																																			SO:0001589	frameshift_variant	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162865080_162865089delTCCCACCGGG	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1970_1979delCCCGGTGGGA	2.37:g.162865080_162865089delTCCCACCGGG	ENSP00000353731:p.Ser657fs					DPP4_ENST00000491591.1_5'UTR	p.SRWE657fs	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			22	2530_2539	-			657					Q53TN1	Frame_Shift_Del	DEL	ENST00000360534.3	37	c.1970_1979delCCCGGTGGGA	CCDS2216.1																																																																																				0.471	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			24	19						24	19	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150877759	150877760	+	Frame_Shift_Ins	INS	-	-	TCGAGTA			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:150877759_150877760insTCGAGTA	ENST00000474524.1	+	7	1016_1017	c.978_979insTCGAGTA	c.(979-981)tcgfs	p.-329fs	MED12L_ENST00000309237.4_Frame_Shift_Ins_p.-329fs|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Frame_Shift_Ins_p.-329fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GACCAAACAACTCGAGTATCGG	0.609																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(976-981)aacgagfs		mediator complex subunit 12-like																																				SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877759_150877760insTCGAGTA	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.979_985dupTCGAGTA	3.37:g.150877760_150877766dupTCGAGTA	ENSP00000417235:p.Ile329fs					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Frame_Shift_Ins_p.E327fs|MED12L_ENST00000309237.4_Frame_Shift_Ins_p.E327fs	p.E327fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1016_1017	+			327					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Ins	INS	ENST00000474524.1	37	c.978_979insTCGAGTA	CCDS33876.1																																																																																				0.609	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	205						7	205	---	---	---	---
LOC728339	728339	broad.mit.edu	37	4	190767937	190767937	+	lincRNA	DEL	C	C	-	rs67778127		TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr4:190767937delC	ENST00000511785.1	-	0	425																											attctccgtgccgtgtccctc	0.642																																						ENST00000511785.1																			0																																																			0							g.chr4:190767937delC																													4.37:g.190767937delC														0	425	-									RNA	DEL	ENST00000511785.1	37																																																																																						0.642	AF146191.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000361301.1			3	6						3	6	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5352561	5352563	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr7:5352561_5352563delGAG	ENST00000430969.1	-	27	8307_8309	c.7959_7961delCTC	c.(7957-7962)tcctct>tct	p.2653_2654SS>S	TNRC18_ENST00000399537.4_In_Frame_Del_p.2653_2654SS>S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2653	Ser-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		ggacgaggaagaggaggaggagg	0.606																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(7957-7962)tct>tc		trinucleotide repeat containing 18				11,3879		0,11,1934						-5.0	0.0			7	26,7484		1,24,3730	no	coding	TNRC18	NM_001080495.2		1,35,5664	A1A1,A1R,RR		0.3462,0.2828,0.3246				37,11363				SO:0001651	inframe_deletion	84629						DNA binding	g.chr7:5352561_5352563delGAG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7959_7961delCTC	7.37:g.5352570_5352572delGAG	ENSP00000395538:p.Ser2671del					TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2669del	p.SS2669del			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8307_8309	-		Ovarian(82;0.142)	2669			Ser-rich.		A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	ENST00000430969.1	37	c.7959_7961delCTC	CCDS47534.1																																																																																				0.606	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---
OR2A1-AS1	101928492	broad.mit.edu	37	7	144030382	144030383	+	RNA	DEL	AC	AC	-	rs144347727	byFrequency	TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr7:144030382_144030383delAC	ENST00000463561.1	-	0	411				OR2A1-AS1_ENST00000496968.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000475089.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000493539.1_RNA|OR2A1-AS1_ENST00000486094.1_RNA|OR2A1-AS1_ENST00000478925.1_RNA|OR2A1-AS1_ENST00000467944.1_RNA|OR2A1-AS1_ENST00000488041.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA					OR2A1 antisense RNA 1																		ctgaaaatgtacagactttttt	0.356														427	0.0852636	0.0484	0.0432	5008	,	,		28996	0.2371		0.0626	False		,,,				2504	0.0317					ENST00000463561.1																			0																																																			0							g.chr7:144030382_144030383delAC	BC040701		7q35	2013-09-20			ENSG00000244479	ENSG00000244479		"""Long non-coding RNAs"""	49168	non-coding RNA	RNA, long non-coding							Standard	XR_242201		Approved				OTTHUMG00000158050		7.37:g.144030382_144030383delAC						RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000467944.1_RNA|RP4-798C17.6_ENST00000488041.1_RNA|RP4-798C17.6_ENST00000493539.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000486094.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000475089.1_RNA|RP4-798C17.6_ENST00000496968.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000478925.1_RNA								0	411	-									RNA	DEL	ENST00000463561.1	37																																																																																						0.356	OR2A1-AS1-007	KNOWN	basic	antisense	antisense	OTTHUMT00000350084.1			2	4						2	4	---	---	---	---
ESRP1	54845	broad.mit.edu	37	8	95650726	95650728	+	5'Flank	DEL	ATC	ATC	-			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr8:95650726_95650728delATC	ENST00000433389.2	+	0	0				ESRP1_ENST00000454170.2_5'Flank|ESRP1_ENST00000358397.5_5'Flank|ESRP1_ENST00000423620.2_5'Flank|RP11-22C11.2_ENST00000562760.1_RNA	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1						mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						tgacctcgtgatccgcctcggcc	0.502																																						ENST00000562760.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr8:95650726_95650728delATC	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587		8.37:g.95650726_95650728delATC	Exception_encountered							NR_034034.1						0	967_969	-								A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	RNA	DEL	ENST00000433389.2	37		CCDS47897.1																																																																																				0.502	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		2	4						2	4	---	---	---	---
RP11-764K9.1	0	broad.mit.edu	37	9	68409713	68409714	+	lincRNA	INS	-	-	ACAC			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr9:68409713_68409714insACAC	ENST00000417843.2	-	0	67				RNA5SP284_ENST00000384547.1_RNA																							AAGAAAAAAAAACACGTCTCAG	0.554																																						ENST00000417843.2																			0																																																			0							g.chr9:68409713_68409714insACAC																													9.37:g.68409714_68409717dupACAC														0	67	-									RNA	INS	ENST00000417843.2	37																																																																																						0.554	RP11-764K9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000129817.2			2	4						2	4	---	---	---	---
DPH6-AS1	100507466	broad.mit.edu	37	15	36067166	36067166	+	lincRNA	DEL	C	C	-			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr15:36067166delC	ENST00000501169.2	+	0	462					NR_038251.1				DPH6 antisense RNA 1 (head to head)																		CTCCAACTTACCCATTCTATA	0.403																																						ENST00000501169.2																			0																																																			0							g.chr15:36067166delC	BC025664		15q14	2013-05-02	2013-05-02	2013-05-02	ENSG00000248079	ENSG00000248079		"""Long non-coding RNAs"""	44147	non-coding RNA	RNA, long non-coding			"""ATPBD4 antisense RNA 1 (non-protein coding)"", ""ATPBD4 antisense RNA 1"", ""ATPBD4 antisense RNA 1 (head to head)"""	ATPBD4-AS1			Standard	NR_038251		Approved				OTTHUMG00000172347		15.37:g.36067166delC								NR_038251.1						0	462	+									RNA	DEL	ENST00000501169.2	37																																																																																						0.403	DPH6-AS1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000418019.1	NR_038251		2	4						2	4	---	---	---	---
LRRC37BP1	147172	broad.mit.edu	37	17	28960996	28960997	+	RNA	INS	-	-	TC	rs535345037|rs200505543|rs199547031	byFrequency	TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:28960996_28960997insTC	ENST00000417404.1	+	0	1269									leucine rich repeat containing 37B pseudogene 1																		tttttctttttttttttttttt	0.302																																						ENST00000417404.1																			0																																																			0							g.chr17:28960996_28960997insTC	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28960996_28960997insTC						LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA								0	1269	+									RNA	INS	ENST00000417404.1	37																																																																																						0.302	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		2	4						2	4	---	---	---	---
LIPE-AS1	100996307	broad.mit.edu	37	19	43155211	43155211	+	RNA	DEL	C	C	-	rs372526976		TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr19:43155211delC	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA	NR_073179.1				LIPE antisense RNA 1																		tgtccctccaccccctcccaa	0.478																																						ENST00000594688.1																			0																																																			0							g.chr19:43155211delC	AK096849, BM974950		19q13.2	2013-05-21			ENSG00000213904	ENSG00000213904		"""Long non-coding RNAs"""	48589	non-coding RNA	RNA, long non-coding							Standard	NR_073179		Approved				OTTHUMG00000182815		19.37:g.43155211delC						LIPE-AS1_ENST00000594624.2_RNA		NR_073179.1						0	1450	+									RNA	DEL	ENST00000594688.1	37																																																																																						0.478	LIPE-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000464099.1	NR_073179		2	4						2	4	---	---	---	---
LINC01598	105379478	broad.mit.edu	37	20	29589385	29589385	+	RNA	DEL	T	T	-	rs372330208		TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr20:29589385delT	ENST00000432067.1	-	0	152																											tgatttcttcttttacccaat	0.299																																						ENST00000432067.1																			0																																																			0							g.chr20:29589385delT																													20.37:g.29589385delT														0	152	-									RNA	DEL	ENST00000432067.1	37																																																																																						0.299	RP4-610C12.1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078489.3			2	4						2	4	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40113160	40113161	+	Frame_Shift_Del	DEL	TC	TC	-	rs146144596		TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr20:40113160_40113161delTC	ENST00000373233.3	-	15	2265_2266	c.2088_2089delGA	c.(2086-2091)gagacgfs	p.ET696fs	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	696	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCAATGATCGTCTCTTGTTTGG	0.455																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(2086-2091)gacgfs		chromodomain helicase DNA binding protein 6																																				SO:0001589	frameshift_variant	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40113160_40113161delTC	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2088_2089delGA	20.37:g.40113162_40113163delTC	ENSP00000362330:p.Glu696fs					CHD6_ENST00000309279.7_Intron	p.ET696fs	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			15	2265_2266	-		Myeloproliferative disorder(115;0.00425)	696					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Frame_Shift_Del	DEL	ENST00000373233.3	37	c.2088_2089delGA	CCDS13317.1																																																																																				0.455	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			64	71						64	71	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11058882	11058882	+	RNA	DEL	A	A	-	rs58839701		TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr21:11058882delA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATGTGGGGGAAAAAAATTAG	0.358																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058882delA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058882delA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.358	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	3						4	3	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11096512	11096516	+	RNA	DEL	GTTTT	GTTTT	-	rs139100150|rs150200394|rs573901432|rs150216981	byFrequency	TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr21:11096512_11096516delGTTTT	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccATTTTTAAgttttgttttgtttt	0.493																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11096512_11096516delGTTTT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11096522_11096526delGTTTT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.493	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	8						4	8	---	---	---	---
