#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ACTG1P17	283693	broad.mit.edu	37	15	83395032	83395032	+	RNA	SNP	C	C	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr15:83395032C>G	ENST00000560958.1	-	0	1254				AC105339.2_ENST00000577648.1_RNA	NR_036446.1																						TCAGGCAGCACAGGCTACGTA	0.458																																						ENST00000560958.1																			0																																																			283693							g.chr15:83395032C>G																													15.37:g.83395032C>G			Somatic						NR_036446.1		WXS	Illumina GAIIx	Phase_I					0	1254	-									RNA	SNP	ENST00000560958.1	37																																																																																						0.458	RP11-752G15.9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000418414.1			14	2	0	0	0	0.435327	0	14	2				
SRRM2	23524	broad.mit.edu	37	16	2815941	2815941	+	Silent	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr16:2815941C>T	ENST00000301740.8	+	11	5961	c.5412C>T	c.(5410-5412)agC>agT	p.S1804S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1804	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GACAGCGGAGCCGGTCAAGGT	0.607																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(5410-5412)agC>agT		serine/arginine repetitive matrix 2							37.0	44.0	42.0					16																	2815941		2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815941C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5412C>T	16.37:g.2815941C>T			Somatic					p.S1804S	NM_016333.3	NP_057417.3	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			11	5961	+			1804			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.5412C>T	CCDS32373.1																																																																																				0.607	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			3	59	0	0	0	0.115264	0	3	59				
XIRP2	129446	broad.mit.edu	37	2	168100111	168100111	+	Missense_Mutation	SNP	G	G	A	rs201995517		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr2:168100111G>A	ENST00000409195.1	+	9	2298	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E515K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E737K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	562					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAATGTTTCGAAACTCAACC	0.373																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2209-2211)Gaa>Aaa		xin actin-binding repeat containing 2		G	LYS/GLU,LYS/GLU,,,	1,3701		0,1,1850	58.0	55.0	56.0		1543,2209,,,	5.9	1.0	2		56	4,8172		0,4,4084	yes	missense,missense,intron,intron,intron	XIRP2	NM_001199144.1,NM_152381.5,NM_001079810.3,NM_001199143.1,NM_001199145.1	56,56,,,	0,5,5934	AA,AG,GG		0.0489,0.027,0.0421	probably-damaging,probably-damaging,,,	515/3328,737/3550,,,	168100111	5,11873	1851	4088	5939	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100111G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2209G>A	2.37:g.168100111G>A	ENSP00000386840:p.Glu737Lys		Somatic				XIRP2_ENST00000409273.1_Missense_Mutation_p.E515K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E737K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	p.E737K	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	2298	+			562					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2209G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390983	0.82902	2.7E-4	4.89E-4	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03330	3.97;3.97;3.97	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.23611	0.0571	M	0.84683	2.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.993;0.993	T	0.00180	-1.1949	10	0.66056	D	0.02	-23.554	19.9164	0.97064	0.0:0.0:1.0:0.0	.	562;562;515	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	737;737;515	ENSP00000386840:E737K;ENSP00000295237:E737K;ENSP00000387255:E515K	ENSP00000295237:E737K	E	+	1	0	XIRP2	167808357	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.380000	0.66202	2.810000	0.96702	0.650000	0.86243	GAA		0.373	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		45	66	0	0	0	0.864702	0	45	66				
UNC45B	146862	broad.mit.edu	37	17	33477172	33477172	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr17:33477172C>T	ENST00000268876.5	+	4	408	c.311C>T	c.(310-312)gCc>gTc	p.A104V	UNC45B_ENST00000433649.1_Missense_Mutation_p.A104V|UNC45B_ENST00000591048.1_Missense_Mutation_p.A104V|UNC45B_ENST00000394570.2_Missense_Mutation_p.A104V|UNC45B_ENST00000378449.1_Missense_Mutation_p.A104V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	104					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAGCGTTGTGCCACCCTCGAG	0.587																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(310-312)gCc>gTc		unc-45 homolog B (C. elegans)							106.0	87.0	93.0					17																	33477172		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33477172C>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.311C>T	17.37:g.33477172C>T	ENSP00000268876:p.Ala104Val		Somatic				UNC45B_ENST00000394570.2_Missense_Mutation_p.A104V|UNC45B_ENST00000433649.1_Missense_Mutation_p.A104V|UNC45B_ENST00000378449.1_Missense_Mutation_p.A104V|UNC45B_ENST00000591048.1_Missense_Mutation_p.A104V	p.A104V	NM_173167.2	NP_775259.1	WXS	Illumina GAIIx	Phase_I	Q8IWX7	UN45B_HUMAN			4	408	+		Ovarian(249;0.17)	104					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.311C>T	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497189	0.64186	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	4.85	4.85	0.62838	Armadillo-like helical (1);Armadillo-type fold (1);Tetratricopeptide repeat-containing (1);	0.103301	0.64402	D	0.000003	T	0.44414	0.1292	N	0.16708	0.43	0.80722	D	1	B;B;B	0.28324	0.207;0.184;0.053	B;B;B	0.34824	0.19;0.079;0.065	T	0.30851	-0.9964	10	0.12430	T	0.62	-19.7792	17.1237	0.86709	0.0:1.0:0.0:0.0	.	104;104;104	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	V	104	ENSP00000378071:A104V;ENSP00000268876:A104V;ENSP00000412840:A104V;ENSP00000367710:A104V	ENSP00000268876:A104V	A	+	2	0	UNC45B	30501285	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.843000	0.69424	2.523000	0.85059	0.650000	0.86243	GCC		0.587	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		4	97	0	0	0	0.150653	0	4	97				
HIATL1	84641	broad.mit.edu	37	9	97209207	97209207	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr9:97209207T>C	ENST00000375344.3	+	7	1101	c.832T>C	c.(832-834)Tat>Cat	p.Y278H	HIATL1_ENST00000428393.2_Missense_Mutation_p.Y213H	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	278					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TTTTTTTCTCTATCTCAGGCA	0.388																																					Pancreas(77;1260 1915 1973 10423)	ENST00000375344.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11						c.(832-834)Tat>Cat		hippocampus abundant transcript-like 1							143.0	129.0	134.0					9																	97209207		2203	4300	6503	SO:0001583	missense	84641				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity	g.chr9:97209207T>C	AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.832T>C	9.37:g.97209207T>C	ENSP00000364493:p.Tyr278His		Somatic				HIATL1_ENST00000428393.2_Missense_Mutation_p.Y213H	p.Y278H	NM_032558.2	NP_115947.2	WXS	Illumina GAIIx	Phase_I	Q5SR56	HIAL1_HUMAN			7	1101	+		Acute lymphoblastic leukemia(62;0.136)	278					B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Missense_Mutation	SNP	ENST00000375344.3	37	c.832T>C	CCDS6710.2	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224202	0.79576	.	.	ENSG00000148110	ENST00000375344;ENST00000428393	T;T	0.66815	-0.23;-0.23	4.73	4.73	0.59995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.47455	D	0.000222	D	0.84174	0.5414	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87265	0.2282	10	0.66056	D	0.02	-4.9866	12.5079	0.55991	0.0:0.0:0.0:1.0	.	213;278	B4DUE6;Q5SR56	.;HIAL1_HUMAN	H	278;213	ENSP00000364493:Y278H;ENSP00000405909:Y213H	ENSP00000364493:Y278H	Y	+	1	0	HIATL1	96249028	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.555000	0.82223	2.117000	0.64856	0.533000	0.62120	TAT		0.388	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		65	120	0	0	0	0.870114	0	65	120				
NF2	4771	broad.mit.edu	37	22	30035203	30035203	+	Splice_Site	SNP	T	T	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr22:30035203T>G	ENST00000338641.4	+	3	804		c.e3+2		NF2_ENST00000347330.5_Intron|NF2_ENST00000353887.4_Intron|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000361452.4_Intron|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000361676.4_Splice_Site|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000334961.7_Intron|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000413209.2_Splice_Site	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)						actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(4)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTCTTACAGGTACATCAGTCA	0.453			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"""D, Mis, N, F, S, O"""	neurofibromatosis type 2 gene			O		"""meningioma, acoustic neuroma"""	"""meningioma, acoustic neuroma, renal """		4	Unknown(4)	p.?(4)	stomach(1)|large_intestine(1)|lung(1)|soft_tissue(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						c.e3+2		neurofibromin 2 (merlin)							115.0	103.0	107.0					22																	30035203		2203	4300	6503	SO:0001630	splice_region_variant	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30035203T>G	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.363+2T>G	22.37:g.30035203T>G			Somatic				NF2_ENST00000361676.4_Splice_Site|NF2_ENST00000334961.7_Intron|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000413209.2_Splice_Site|NF2_ENST00000353887.4_Intron|NF2_ENST00000361452.4_Intron|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000347330.5_Intron		NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	WXS	Illumina GAIIx	Phase_I	P35240	MERL_HUMAN			3	804	+								O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Splice_Site	SNP	ENST00000338641.4	37		CCDS13861.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.387041	0.82902	.	.	ENSG00000186575	ENST00000413209;ENST00000338641;ENST00000403435;ENST00000397822;ENST00000403999;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2996	0.73936	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF2	28365203	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.774000	0.85478	2.248000	0.74166	0.460000	0.39030	.		0.453	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	Intron	98	20	0	0	0	0.870114	0	98	20				
PCDHA4	56144	broad.mit.edu	37	5	140188641	140188641	+	Silent	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr5:140188641C>T	ENST00000530339.1	+	1	1869	c.1869C>T	c.(1867-1869)cgC>cgT	p.R623R	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.R623R|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.R623R	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R623R(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCGTTCCGCGTGGGGCTGT	0.672																																						ENST00000530339.1																			2	Substitution - coding silent(2)	p.R623R(2)	prostate(2)	breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1867-1869)cgC>cgT									90.0	89.0	89.0					5																	140188641		2203	4299	6502	SO:0001819	synonymous_variant	56144							g.chr5:140188641C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1869C>T	5.37:g.140188641C>T			Somatic				PCDHA4_ENST00000356878.4_Silent_p.R623R|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Silent_p.R623R|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.R623R	NM_018907.2	NP_061730.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1869	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1869C>T	CCDS54916.1																																																																																				0.672	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		44	57	0	0	0	0.870114	0	44	57				
CNOT1	23019	broad.mit.edu	37	16	58622799	58622799	+	Silent	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr16:58622799C>T	ENST00000317147.5	-	3	446	c.114G>A	c.(112-114)cgG>cgA	p.R38R	CNOT1_ENST00000569240.1_Silent_p.R38R|CNOT1_ENST00000441024.2_Silent_p.R38R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	38					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.R38R(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGGACCGTGCCGATTCACAA	0.373																																						ENST00000317147.5																			2	Substitution - coding silent(2)	p.R38R(2)	kidney(2)	breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(112-114)cgG>cgA		CCR4-NOT transcription complex, subunit 1							62.0	53.0	56.0					16																	58622799		2198	4299	6497	SO:0001819	synonymous_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58622799C>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.114G>A	16.37:g.58622799C>T			Somatic				CNOT1_ENST00000441024.2_Silent_p.R38R|CNOT1_ENST00000569240.1_Silent_p.R38R	p.R38R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	WXS	Illumina GAIIx	Phase_I	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	3	446	-			38					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	c.114G>A	CCDS10799.1																																																																																				0.373	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		3	48	0	0	0	0.115264	0	3	48				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			101927060							g.chr17:45128812C>T																													17.37:g.45128812C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	53	0	0	0	0.150653	0	4	53				
BMS1P20	96610	broad.mit.edu	37	22	22658317	22658317	+	RNA	SNP	G	G	A	rs4050825		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr22:22658317G>A	ENST00000426066.1	+	0	84					NR_027293.1				BMS1 pseudogene 20																		GAATGAAGATGTAGAGAAACA	0.284																																						ENST00000426066.1																			0																																																			96610							g.chr22:22658317G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22658317G>A			Somatic						NR_027293.1		WXS	Illumina GAIIx	Phase_I					0	84	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.284	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	31	0	0	0	0.115264	0	3	31				
ETV5	2119	broad.mit.edu	37	3	185823732	185823732	+	Splice_Site	SNP	C	C	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr3:185823732C>A	ENST00000306376.5	-	2	173		c.e2-1		DGKG_ENST00000447054.1_Splice_Site|ETV5_ENST00000434744.1_Splice_Site|ETV5_ENST00000537818.1_Splice_Site	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5						cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGGGATCCTCCTGTAATATGA	0.388			T	"""TMPRSS2, SCL45A3"""	Prostate																																	ENST00000306376.5				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"""TMPRSS2, SCL45A3"""		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.e2-1		ets variant 5							28.0	24.0	25.0					3																	185823732		692	1591	2283	SO:0001630	splice_region_variant	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185823732C>A	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.74-1G>T	3.37:g.185823732C>A			Somatic				ETV5_ENST00000537818.1_Splice_Site|ETV5_ENST00000434744.1_Splice_Site|DGKG_ENST00000447054.1_Splice_Site		NM_004454.2	NP_004445.1	WXS	Illumina GAIIx	Phase_I	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		2	173	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)							A6NH46|B7Z7D7|Q6IBN5	Splice_Site	SNP	ENST00000306376.5	37		CCDS33906.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307654	0.40795	.	.	ENSG00000244405	ENST00000537818	.	.	.	5.26	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8416	0.13492	0.0:0.774:0.0:0.226	.	.	.	.	.	-1	.	.	.	-	.	.	ETV5	187306426	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.607000	0.36836	2.474000	0.83562	0.313000	0.20887	.		0.388	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454	Intron	9	17	1	0	3.09899e-07	0.307466	3.40452e-07	9	17				
COG3	83548	broad.mit.edu	37	13	46077403	46077403	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr13:46077403G>A	ENST00000349995.5	+	14	1625	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	505					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TTTGAAAGATGAACAGAAGAA	0.358																																					Ovarian(150;1048 1859 18083 21577 42700)	ENST00000349995.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24						c.(1513-1515)Gaa>Aaa		component of oligomeric golgi complex 3							103.0	101.0	101.0					13																	46077403		2203	4300	6503	SO:0001583	missense	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46077403G>A	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1513G>A	13.37:g.46077403G>A	ENSP00000258654:p.Glu505Lys		Somatic				COG3_ENST00000465942.1_3'UTR	p.E505K	NM_031431.3	NP_113619.2	WXS	Illumina GAIIx	Phase_I	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	14	1625	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	505					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	37	c.1513G>A	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232206	0.79688	.	.	ENSG00000136152	ENST00000349995	T	0.42900	0.96	5.85	5.85	0.93711	.	0.049217	0.85682	D	0.000000	T	0.36963	0.0986	L	0.52905	1.665	0.80722	D	1	B;P	0.43477	0.404;0.808	B;B	0.33690	0.146;0.168	T	0.19811	-1.0294	10	0.17369	T	0.5	-16.1576	19.1557	0.93509	0.0:0.0:1.0:0.0	.	342;505	B4E2F3;Q96JB2	.;COG3_HUMAN	K	505	ENSP00000258654:E505K	ENSP00000258654:E505K	E	+	1	0	COG3	44975404	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.683000	0.91236	2.765000	0.95021	0.637000	0.83480	GAA		0.358	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			53	72	0	0	0	0.870114	0	53	72				
ZNF606	80095	broad.mit.edu	37	19	58490863	58490863	+	Silent	SNP	A	A	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:58490863A>C	ENST00000341164.4	-	7	1805	c.1185T>G	c.(1183-1185)acT>acG	p.T395T	ZNF606_ENST00000536132.1_Silent_p.T305T	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GTTTCTCTGCAGTGTAAGTGC	0.373																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1183-1185)acT>acG		zinc finger protein 606							101.0	91.0	94.0					19																	58490863		2203	4300	6503	SO:0001819	synonymous_variant	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490863A>C	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1185T>G	19.37:g.58490863A>C			Somatic				ZNF606_ENST00000536132.1_Silent_p.T305T	p.T395T	NM_025027.3	NP_079303.2	WXS	Illumina GAIIx	Phase_I	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1805	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	395					A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	37	c.1185T>G	CCDS12968.1																																																																																				0.373	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		78	34	0	0	0	0.870114	0	78	34				
C7	730	broad.mit.edu	37	5	40959667	40959667	+	Missense_Mutation	SNP	G	G	A	rs200879856		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr5:40959667G>A	ENST00000313164.9	+	12	1965	c.1606G>A	c.(1606-1608)Gtt>Att	p.V536I		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	536	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				GAGATCCTGCGTTGGAGAAAC	0.542																																						ENST00000313164.9																			0											c.(1606-1608)Gtt>Att		complement component 7							69.0	77.0	75.0					5																	40959667		1994	4173	6167	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40959667G>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1606G>A	5.37:g.40959667G>A	ENSP00000322061:p.Val536Ile		Somatic					p.V536I	NM_000587.2	NP_000578.2	WXS	Illumina GAIIx	Phase_I	P10643	CO7_HUMAN			12	1965	+		Ovarian(839;0.0112)	536			TSP type-1 2.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.1606G>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.566116	0.00903	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.53857	0.6	5.4	-5.66	0.02451	.	1.177670	0.06081	N	0.661790	T	0.24314	0.0589	N	0.04245	-0.25	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18524	-1.0334	10	0.19147	T	0.46	-2.3485	7.4849	0.27427	0.343:0.3111:0.3459:0.0	.	536	P10643	CO7_HUMAN	I	536;376	ENSP00000322061:V536I	ENSP00000322061:V536I	V	+	1	0	C7	40995424	0.083000	0.21467	0.252000	0.24328	0.097000	0.18754	0.312000	0.19397	-1.086000	0.03084	-0.598000	0.04106	GTT		0.542	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			8	27	0	0	0	0.335167	0	8	27				
RFC2	5982	broad.mit.edu	37	7	73661054	73661054	+	Silent	SNP	A	A	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr7:73661054A>G	ENST00000055077.3	-	5	432	c.372T>C	c.(370-372)gcT>gcC	p.A124A	RFC2_ENST00000352131.3_Intron	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	124					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						CTTTTTGTTGAGCAAACATTT	0.413																																						ENST00000055077.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						c.(370-372)gcT>gcC		replication factor C (activator 1) 2, 40kDa							184.0	170.0	175.0					7																	73661054		2203	4300	6503	SO:0001819	synonymous_variant	5982				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr7:73661054A>G		CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541		"""ATPases / AAA-type"""	9970	protein-coding gene	gene with protein product	"""activator 1"""	600404	"""replication factor C (activator 1) 2 (40kD)"""			1313560, 7774928	Standard	NM_181471		Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.372T>C	7.37:g.73661054A>G			Somatic				RFC2_ENST00000352131.3_Intron	p.A124A	NM_181471.1	NP_852136.1	WXS	Illumina GAIIx	Phase_I	P35250	RFC2_HUMAN			5	432	-			124					B5BU07|D3DXG3|P32846|Q9BU93	Silent	SNP	ENST00000055077.3	37	c.372T>C	CCDS5568.1																																																																																				0.413	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252459.2	NM_181471		76	136	0	0	0	0.870114	0	76	136				
CAPN10	11132	broad.mit.edu	37	2	241531379	241531379	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr2:241531379C>T	ENST00000391984.2	+	4	696	c.500C>T	c.(499-501)gCc>gTc	p.A167V	CAPN10_ENST00000404753.3_Missense_Mutation_p.A167V|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.A167V|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000391982.2_Missense_Mutation_p.A167V	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	167	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CACCTGTGGGCCGGGCAGGTG	0.642																																						ENST00000391984.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.(499-501)gCc>gTc		calpain 10							35.0	40.0	38.0					2																	241531379		2202	4299	6501	SO:0001583	missense	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241531379C>T	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.500C>T	2.37:g.241531379C>T	ENSP00000375844:p.Ala167Val		Somatic				CAPN10_ENST00000391982.2_Missense_Mutation_p.A167V|CAPN10_ENST00000354082.4_Missense_Mutation_p.A167V|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.A167V|CAPN10_ENST00000352879.4_Intron	p.A167V	NM_023083.3	NP_075571.1	WXS	Illumina GAIIx	Phase_I	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	4	696	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	167			Calpain catalytic.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	c.500C>T	CCDS42838.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842100	0.91197	.	.	ENSG00000142330	ENST00000391984;ENST00000391982;ENST00000404753;ENST00000354082;ENST00000432084	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	4.37	4.37	0.52481	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	M	0.81682	2.555	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.994;0.997	D	0.94149	0.7404	10	0.87932	D	0	.	14.4145	0.67139	0.0:1.0:0.0:0.0	.	167;167;167;167	B7Z6G3;B7WPF5;Q9HC96-3;Q9HC96	.;.;.;CAN10_HUMAN	V	167;167;167;167;11	ENSP00000375844:A167V;ENSP00000375842:A167V;ENSP00000384422:A167V;ENSP00000270362:A167V;ENSP00000407090:A11V	ENSP00000270362:A167V	A	+	2	0	CAPN10	241180052	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.950000	0.75977	1.986000	0.57962	0.655000	0.94253	GCC		0.642	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		11	13	0	0	0	0.411799	0	11	13				
SPG21	51324	broad.mit.edu	37	15	65273246	65273246	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr15:65273246G>A	ENST00000204566.2	-	3	476	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	SPG21_ENST00000433215.2_Missense_Mutation_p.R61W|SPG21_ENST00000416889.2_Missense_Mutation_p.R61W|SPG21_ENST00000559199.1_5'UTR|SPG21_ENST00000560564.1_5'UTR	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	61					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AAAATCTGCCGGAAAAAGACA	0.453																																						ENST00000204566.2																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(181-183)Cgg>Tgg		spastic paraplegia 21 (autosomal recessive, Mast syndrome)							72.0	69.0	70.0					15																	65273246		2202	4299	6501	SO:0001583	missense	51324				cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding	g.chr15:65273246G>A	AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"""maspardin"""	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.181C>T	15.37:g.65273246G>A	ENSP00000204566:p.Arg61Trp		Somatic				SPG21_ENST00000560564.1_5'UTR|SPG21_ENST00000559199.1_5'UTR|SPG21_ENST00000433215.2_Missense_Mutation_p.R61W|SPG21_ENST00000416889.2_Missense_Mutation_p.R61W	p.R61W	NM_016630.3	NP_057714.1	WXS	Illumina GAIIx	Phase_I	Q9NZD8	SPG21_HUMAN			3	476	-			61					B4DW44|Q6ZMB6	Missense_Mutation	SNP	ENST00000204566.2	37	c.181C>T	CCDS10198.1	.	.	.	.	.	.	.	.	.	.	G	35	5.595893	0.96602	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	T;T	0.68479	-0.33;-0.33	5.69	5.69	0.88448	.	0.393988	0.31660	N	0.007267	T	0.75510	0.3859	M	0.65975	2.015	0.51012	D	0.999908	D;D	0.61697	0.99;0.989	P;P	0.53185	0.631;0.72	T	0.74106	-0.3772	10	0.37606	T	0.19	-9.5053	18.8037	0.92028	0.0:0.0:1.0:0.0	.	61;61	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	W	61	ENSP00000204566:R61W;ENSP00000404111:R61W	ENSP00000204566:R61W	R	-	1	2	SPG21	63060299	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.913000	0.87471	2.682000	0.91365	0.650000	0.86243	CGG		0.453	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3	NM_016630		36	35	0	0	0	0.796494	0	36	35				
FER	2241	broad.mit.edu	37	5	108295006	108295006	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr5:108295006C>G	ENST00000281092.4	+	13	1998	c.1614C>G	c.(1612-1614)atC>atG	p.I538M	FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.I363M	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	538	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AACAGGTCATCACTAAGAAAT	0.358																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(1612-1614)atC>atG		fer (fps/fes related) tyrosine kinase							137.0	132.0	134.0					5																	108295006		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108295006C>G	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1614C>G	5.37:g.108295006C>G	ENSP00000281092:p.Ile538Met		Somatic				FER_ENST00000438717.2_Missense_Mutation_p.I363M|FER_ENST00000536402.1_3'UTR	p.I538M	NM_005246.2	NP_005237.2	WXS	Illumina GAIIx	Phase_I	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	13	1998	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	538			SH2.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.1614C>G	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617110	0.66672	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.76968	-1.06;-1.05	6.07	5.11	0.69529	Protein kinase-like domain (1);SH2 motif (2);	0.000000	0.85682	D	0.000000	T	0.78880	0.4353	L	0.35593	1.075	0.52099	D	0.999945	D	0.71674	0.998	D	0.78314	0.991	T	0.78843	-0.2044	10	0.72032	D	0.01	-11.4383	5.6724	0.17729	0.2024:0.6677:0.0:0.1299	.	538	P16591	FER_HUMAN	M	538;363	ENSP00000281092:I538M;ENSP00000394297:I363M	ENSP00000281092:I538M	I	+	3	3	FER	108322905	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.014000	0.29950	2.885000	0.99019	0.655000	0.94253	ATC		0.358	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		71	114	0	0	0	0.870114	0	71	114				
DOCK4	9732	broad.mit.edu	37	7	111387452	111387452	+	Silent	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr7:111387452C>T	ENST00000437633.1	-	42	4693	c.4437G>A	c.(4435-4437)aaG>aaA	p.K1479K	DOCK4_ENST00000494651.2_Silent_p.K362K|DOCK4_ENST00000428084.1_Silent_p.K1488K	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1479	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GCTGCTGATTCTTATTTTCTA	0.368																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(4462-4464)aaG>aaA		dedicator of cytokinesis 4							85.0	83.0	84.0					7																	111387452		1907	4123	6030	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111387452C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4437G>A	7.37:g.111387452C>T			Somatic				DOCK4_ENST00000437633.1_Silent_p.K1479K|DOCK4_ENST00000494651.2_Silent_p.K362K	p.K1488K			WXS	Illumina GAIIx	Phase_I	Q8N1I0	DOCK4_HUMAN			43	4736	-		Acute lymphoblastic leukemia(1;0.0441)	1479			DHR-2.		O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.4464G>A	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	8.918	0.960396	0.18507	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.27	4.1	0.47936	.	.	.	.	.	T	0.58481	0.2125	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54774	-0.8243	4	.	.	.	.	8.0926	0.30809	0.0:0.7198:0.0:0.2802	.	.	.	.	K	940;1512	.	.	R	-	2	0	DOCK4	111174688	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.706000	0.25690	1.062000	0.40625	0.655000	0.94253	AGA		0.368	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		16	24	0	0	0	0.520397	0	16	24				
NOTCH1	4851	broad.mit.edu	37	9	139401769	139401769	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr9:139401769G>A	ENST00000277541.6	-	22	3706	c.3631C>T	c.(3631-3633)Cgg>Tgg	p.R1211W		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1211	EGF-like 31; calcium-binding. {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)		TGAGTGCCCCGTGGGCAGGAG	0.687			"""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.(3631-3633)Cgg>Tgg		notch 1							35.0	40.0	38.0					9																	139401769		1999	4166	6165	SO:0001583	missense	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.chr9:139401769G>A	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.3631C>T	9.37:g.139401769G>A	ENSP00000277541:p.Arg1211Trp	HNSCC(8;0.001)	Somatic					p.R1211W	NM_017617.3	NP_060087.3	WXS	Illumina GAIIx	Phase_I	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	22	3706	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1211			EGF-like 31; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.3631C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352190	0.61183	.	.	ENSG00000148400	ENST00000277541	D	0.92249	-3.0	5.13	1.79	0.24919	EGF (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94311	0.8172	M	0.67569	2.06	0.50313	D	0.999867	D	0.89917	1.0	D	0.97110	1.0	D	0.92937	0.6369	10	0.54805	T	0.06	.	10.6478	0.45630	0.0:0.1041:0.593:0.3029	.	1211	P46531	NOTC1_HUMAN	W	1211	ENSP00000277541:R1211W	ENSP00000277541:R1211W	R	-	1	2	NOTCH1	138521590	1.000000	0.71417	0.987000	0.45799	0.645000	0.38454	1.742000	0.38248	0.520000	0.28426	-0.176000	0.13171	CGG		0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		27	37	0	0	0	0.706142	0	27	37				
SAFB	6294	broad.mit.edu	37	19	5641841	5641841	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:5641841G>A	ENST00000292123.5	+	4	537	c.430G>A	c.(430-432)Gtt>Att	p.V144I	SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000433404.1_De_novo_Start_OutOfFrame|SAFB_ENST00000592224.1_Missense_Mutation_p.V144I|SAFB_ENST00000588852.1_Missense_Mutation_p.V144I|SAFB_ENST00000454510.1_Intron|SAFB_ENST00000538656.1_Intron	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	144					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V144I(1)		breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TAATGGAAGCGTTGCAGATTG	0.483																																					Colon(88;338 1345 6184 8214 20897)	ENST00000433404.1																			1	Substitution - Missense(1)	p.V144I(1)	ovary(1)	breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23								scaffold attachment factor B							158.0	155.0	156.0					19																	5641841		2203	4300	6503	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5641841G>A	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.430G>A	19.37:g.5641841G>A	ENSP00000292123:p.Val144Ile		Somatic				SAFB_ENST00000454510.1_Intron|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000292123.5_Missense_Mutation_p.V144I|SAFB_ENST00000588852.1_Missense_Mutation_p.V144I|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000592224.1_Missense_Mutation_p.V144I				WXS	Illumina GAIIx	Phase_I	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	0	497	+								A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Translation_Start_Site	SNP	ENST00000292123.5	37		CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103163	0.20632	.	.	ENSG00000160633	ENST00000292123	T	0.10288	2.89	5.7	4.67	0.58626	.	0.122641	0.36303	N	0.002678	T	0.08447	0.0210	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B	0.32365	0.367;0.013;0.367;0.236;0.367	B;B;B;B;B	0.20577	0.03;0.002;0.03;0.03;0.03	T	0.19289	-1.0310	10	0.40728	T	0.16	-17.463	13.0308	0.58840	0.0745:0.0:0.9255:0.0	.	144;144;144;144;144	B7ZLP5;B7Z2H3;A0AV56;Q15424;B7ZLP6	.;.;.;SAFB1_HUMAN;.	I	144	ENSP00000292123:V144I	ENSP00000292123:V144I	V	+	1	0	SAFB	5592841	0.826000	0.29277	0.076000	0.20297	0.234000	0.25298	2.253000	0.43205	1.411000	0.46957	0.557000	0.71058	GTT		0.483	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			49	35	0	0	0	0.870114	0	49	35				
SIK1	150094	broad.mit.edu	37	21	44838289	44838289	+	Missense_Mutation	SNP	G	G	A	rs374747938		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr21:44838289G>A	ENST00000270162.6	-	12	1727	c.1595C>T	c.(1594-1596)gCc>gTc	p.A532V		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	532					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CGGGGAGCAGGCGCCCAGCAG	0.692																																						ENST00000270162.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						c.(1594-1596)gCc>gTc		salt-inducible kinase 1							18.0	21.0	20.0					21																	44838289		2195	4293	6488	SO:0001583	missense	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44838289G>A	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1595C>T	21.37:g.44838289G>A	ENSP00000270162:p.Ala532Val		Somatic					p.A532V	NM_173354.3	NP_775490.2	WXS	Illumina GAIIx	Phase_I	P57059	SIK1_HUMAN			12	1727	-			532					A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	37	c.1595C>T	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	G	7.709	0.694754	0.15039	.	.	ENSG00000142178	ENST00000270162	T	0.72282	-0.64	4.79	3.81	0.43845	.	0.630711	0.16972	N	0.192079	T	0.51449	0.1675	N	0.22421	0.69	0.09310	N	0.999999	B	0.16396	0.017	B	0.09377	0.004	T	0.26189	-1.0110	10	0.30854	T	0.27	.	6.3465	0.21353	0.0:0.1623:0.5091:0.3286	.	532	P57059	SIK1_HUMAN	V	532	ENSP00000270162:A532V	ENSP00000270162:A532V	A	-	2	0	SIK1	43662717	1.000000	0.71417	0.632000	0.29296	0.022000	0.10575	2.539000	0.45718	2.205000	0.71048	0.655000	0.94253	GCC		0.692	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		9	3	0	0	0	0.411799	0	9	3				
ZBTB44	29068	broad.mit.edu	37	11	130131237	130131237	+	Silent	SNP	G	G	T	rs375001701		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr11:130131237G>T	ENST00000357899.4	-	2	804	c.532C>A	c.(532-534)Cga>Aga	p.R178R	ZBTB44_ENST00000397753.1_Silent_p.R178R|ZBTB44_ENST00000525842.1_Silent_p.R178R|ZBTB44_ENST00000530205.1_Silent_p.R178R			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		CGGGATTCTCGGCAGACAGGA	0.443																																						ENST00000525842.1																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(532-534)Cga>Aga		zinc finger and BTB domain containing 44							71.0	67.0	68.0					11																	130131237		1926	4142	6068	SO:0001819	synonymous_variant	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130131237G>T	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.532C>A	11.37:g.130131237G>T			Somatic				ZBTB44_ENST00000357899.4_Silent_p.R178R|ZBTB44_ENST00000530205.1_Silent_p.R178R|ZBTB44_ENST00000397753.1_Silent_p.R178R	p.R178R	NM_014155.4	NP_054874.3	WXS	Illumina GAIIx	Phase_I	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	2	899	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	178					Q6IPT8|Q86VJ7|Q86XX5	Silent	SNP	ENST00000357899.4	37	c.532C>A		.	.	.	.	.	.	.	.	.	.	G	6.553	0.470369	0.12461	.	.	ENSG00000196323	ENST00000527478	.	.	.	5.52	1.27	0.21489	.	.	.	.	.	T	0.68458	0.3003	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65541	-0.6143	4	.	.	.	.	14.9652	0.71184	0.0:0.0:0.509:0.491	.	.	.	.	Q	174	.	.	P	-	2	0	ZBTB44	129636447	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.102000	0.50291	-0.023000	0.13963	-0.152000	0.13540	CCG		0.443	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		3	65	1	0	0.150653	0.150653	0.160972	3	65				
OTOL1	131149	broad.mit.edu	37	3	161220146	161220146	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr3:161220146C>T	ENST00000327928.4	+	3	506	c.506C>T	c.(505-507)cCg>cTg	p.P169L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	169	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CCAGGAAAACCGGGAGCACAA	0.413																																						ENST00000327928.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						c.(505-507)cCg>cTg		otolin 1							57.0	57.0	57.0					3																	161220146		1917	4135	6052	SO:0001583	missense	131149					collagen		g.chr3:161220146C>T		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.506C>T	3.37:g.161220146C>T	ENSP00000330808:p.Pro169Leu		Somatic					p.P169L	NM_001080440.1	NP_001073909.1	WXS	Illumina GAIIx	Phase_I	A6NHN0	OTOL1_HUMAN			3	506	+			169			Collagen-like 1.			Missense_Mutation	SNP	ENST00000327928.4	37	c.506C>T	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869607	0.72065	.	.	ENSG00000182447	ENST00000327928	D	0.92495	-3.05	4.84	4.84	0.62591	.	0.054326	0.85682	D	0.000000	D	0.95143	0.8426	M	0.71920	2.185	0.47308	D	0.999388	D	0.89917	1.0	D	0.79108	0.992	D	0.95221	0.8334	10	0.59425	D	0.04	.	13.4571	0.61206	0.0:1.0:0.0:0.0	.	169	A6NHN0	OTOL1_HUMAN	L	169	ENSP00000330808:P169L	ENSP00000330808:P169L	P	+	2	0	OTOL1	162702840	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	4.319000	0.59197	2.219000	0.72066	0.563000	0.77884	CCG		0.413	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		19	24	0	0	0	0.624587	0	19	24				
CAPN2	824	broad.mit.edu	37	1	223940503	223940503	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr1:223940503C>G	ENST00000295006.5	+	9	1289	c.980C>G	c.(979-981)tCt>tGt	p.S327C	CAPN2_ENST00000433674.2_Missense_Mutation_p.S249C	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	327	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GCCAGGATGTCTTTCAGTGAC	0.502																																						ENST00000295006.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29						c.(979-981)tCt>tGt		calpain 2, (m/II) large subunit							87.0	72.0	77.0					1																	223940503		2203	4300	6503	SO:0001583	missense	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223940503C>G	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.980C>G	1.37:g.223940503C>G	ENSP00000295006:p.Ser327Cys		Somatic				CAPN2_ENST00000433674.2_Missense_Mutation_p.S249C	p.S327C	NM_001748.4	NP_001739.2	WXS	Illumina GAIIx	Phase_I	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	9	1289	+			327			Calpain catalytic.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	c.980C>G	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261895	0.80358	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.91945	-2.94;-2.94	5.74	5.74	0.90152	Peptidase C2, calpain, catalytic domain (3);	0.164446	0.56097	D	0.000031	D	0.95752	0.8618	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.986	D	0.95724	0.8769	10	0.66056	D	0.02	.	15.0503	0.71862	0.0:0.9302:0.0:0.0698	.	249;327	B7ZA96;P17655	.;CAN2_HUMAN	C	249;327;356	ENSP00000413158:S249C;ENSP00000295006:S327C	ENSP00000295006:S327C	S	+	2	0	CAPN2	222007126	1.000000	0.71417	0.962000	0.40283	0.821000	0.46438	6.094000	0.71431	2.709000	0.92574	0.655000	0.94253	TCT		0.502	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		40	66	0	0	0	0.834066	0	40	66				
AKAP11	11215	broad.mit.edu	37	13	42877012	42877012	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr13:42877012A>C	ENST00000025301.2	+	8	4305	c.4130A>C	c.(4129-4131)aAa>aCa	p.K1377T		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1377					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CGATCTGTTAAATCAGGATTA	0.408																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(4129-4131)aAa>aCa		A kinase (PRKA) anchor protein 11							77.0	72.0	74.0					13																	42877012		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42877012A>C	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4130A>C	13.37:g.42877012A>C	ENSP00000025301:p.Lys1377Thr		Somatic					p.K1377T	NM_016248.3	NP_057332.1	WXS	Illumina GAIIx	Phase_I	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	4305	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1377					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.4130A>C	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.173616	0.38413	.	.	ENSG00000023516	ENST00000025301	T	0.57273	0.41	6.16	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.45115	0.1326	L	0.38175	1.15	0.48571	D	0.999672	P	0.49358	0.923	B	0.42771	0.397	T	0.30995	-0.9959	10	0.33940	T	0.23	.	13.8964	0.63775	0.8734:0.1266:0.0:0.0	.	1377	Q9UKA4	AKA11_HUMAN	T	1377	ENSP00000025301:K1377T	ENSP00000025301:K1377T	K	+	2	0	AKAP11	41775012	1.000000	0.71417	0.967000	0.41034	0.987000	0.75469	7.102000	0.77005	1.114000	0.41781	0.528000	0.53228	AAA		0.408	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		49	64	0	0	0	0.870114	0	49	64				
XK	7504	broad.mit.edu	37	X	37553617	37553617	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chrX:37553617A>C	ENST00000378616.3	+	2	527	c.324A>C	c.(322-324)caA>caC	p.Q108H	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	108					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				AGAAGAGGCAAATGCCAAAAA	0.478																																						ENST00000378616.3																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(322-324)caA>caC		X-linked Kx blood group (McLeod syndrome)							83.0	64.0	71.0					X																	37553617		2202	4300	6502	SO:0001583	missense	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37553617A>C	Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.324A>C	X.37:g.37553617A>C	ENSP00000367879:p.Gln108His		Somatic				TM4SF2_ENST00000465127.1_Intron	p.Q108H	NM_021083.2	NP_066569.1	WXS	Illumina GAIIx	Phase_I	P51811	XK_HUMAN			2	527	+		all_lung(315;0.175)	108					Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	ENST00000378616.3	37	c.324A>C	CCDS14241.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.604235	0.66445	.	.	ENSG00000047597	ENST00000378616	T	0.65364	-0.15	6.04	2.07	0.26955	.	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	M	0.72479	2.2	0.52501	D	0.999958	D	0.71674	0.998	D	0.71184	0.972	T	0.69584	-0.5106	10	0.41790	T	0.15	-7.1224	9.8607	0.41112	0.3097:0.0:0.6903:0.0	.	108	P51811	XK_HUMAN	H	108	ENSP00000367879:Q108H	ENSP00000367879:Q108H	Q	+	3	2	XK	37438556	1.000000	0.71417	0.986000	0.45419	0.982000	0.71751	3.149000	0.50655	0.202000	0.20498	-0.502000	0.04539	CAA		0.478	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		34	10	0	0	0	0.760397	0	34	10				
LMTK2	22853	broad.mit.edu	37	7	97833456	97833456	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr7:97833456T>C	ENST00000297293.5	+	13	4734	c.4441T>C	c.(4441-4443)Ttt>Ctt	p.F1481L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1481				Missing (in Ref. 2; BAA83031). {ECO:0000305}.	early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CATTGCCAGCTTTTCCCTCAC	0.672																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(4441-4443)Ttt>Ctt		lemur tyrosine kinase 2							66.0	71.0	69.0					7																	97833456		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97833456T>C	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4441T>C	7.37:g.97833456T>C	ENSP00000297293:p.Phe1481Leu		Somatic					p.F1481L	NM_014916.3	NP_055731.2	WXS	Illumina GAIIx	Phase_I	Q8IWU2	LMTK2_HUMAN			13	4734	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1481	Missing (in Ref. 2; BAA83031).				A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.4441T>C	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	T	32	5.120299	0.94385	.	.	ENSG00000164715	ENST00000297293	D	0.87809	-2.3	5.36	4.2	0.49525	.	0.046649	0.85682	D	0.000000	D	0.83142	0.5190	M	0.64567	1.98	0.58432	D	0.999996	B	0.30664	0.289	B	0.24848	0.056	T	0.83136	-0.0111	10	0.56958	D	0.05	.	10.1657	0.42879	0.0:0.0786:0.0:0.9214	.	1481	Q8IWU2	LMTK2_HUMAN	L	1481	ENSP00000297293:F1481L	ENSP00000297293:F1481L	F	+	1	0	LMTK2	97671392	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.818000	0.62657	2.154000	0.67381	0.460000	0.39030	TTT		0.672	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		59	81	0	0	0	0.870114	0	59	81				
BOLA1	51027	broad.mit.edu	37	1	149871795	149871795	+	Silent	SNP	G	G	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr1:149871795G>T	ENST00000369153.2	+	3	847	c.183G>T	c.(181-183)ccG>ccT	p.P61P	BOLA1_ENST00000369150.1_Silent_p.P61P|BOLA1_ENST00000369152.5_Silent_p.P61P|BOLA1_ENST00000476344.1_3'UTR			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	61						extracellular region (GO:0005576)|mitochondrion (GO:0005739)		p.P61P(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ACGCGGTCCCGCCTGGCAGTG	0.677																																						ENST00000369153.2																			2	Substitution - coding silent(2)	p.P61P(2)	lung(1)|kidney(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10						c.(181-183)ccG>ccT		bolA family member 1							36.0	35.0	35.0					1																	149871795		2203	4299	6502	SO:0001819	synonymous_variant	51027					extracellular region	protein binding	g.chr1:149871795G>T	AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"""bolA-like 1 (E. coli)"", ""bolA homolog 1 (E. coli)"""			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.183G>T	1.37:g.149871795G>T			Somatic				BOLA1_ENST00000369152.5_Silent_p.P61P|BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369150.1_Silent_p.P61P	p.P61P			WXS	Illumina GAIIx	Phase_I	Q9Y3E2	BOLA1_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		3	847	+	Breast(34;0.0124)|all_hematologic(923;0.127)		61					B2R7K2|D3DUZ4|Q5QNY0	Silent	SNP	ENST00000369153.2	37	c.183G>T	CCDS939.1																																																																																				0.677	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2	NM_016074		6	60	1	0	0.217242	0.217242	0.228985	6	60				
COL6A5	256076	broad.mit.edu	37	3	130162344	130162344	+	Missense_Mutation	SNP	C	C	T	rs372980455		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr3:130162344C>T	ENST00000432398.2	+	36	7006	c.6512C>T	c.(6511-6513)cCg>cTg	p.P2171L	COL6A5_ENST00000265379.6_Missense_Mutation_p.P2171L	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2171	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TACCCACCACCGATGCTTGAG	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		19240	0.0		0.0	False		,,,				2504	0.001					ENST00000265379.6																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(6511-6513)cCg>cTg		collagen, type VI, alpha 5		C	LEU/PRO	0,3702		0,0,1851	95.0	91.0	92.0		6512	0.7	0.0	3		92	1,8205		0,1,4102	no	missense	COL6A5	NM_153264.5	98	0,1,5953	TT,TC,CC		0.0122,0.0,0.0084	benign	2171/2527	130162344	1,11907	1851	4103	5954	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130162344C>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6512C>T	3.37:g.130162344C>T	ENSP00000390895:p.Pro2171Leu		Somatic				COL6A5_ENST00000432398.2_Missense_Mutation_p.P2171L	p.P2171L			WXS	Illumina GAIIx	Phase_I	A8TX70	CO6A5_HUMAN			36	7006	+			2171			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6512C>T		.	.	.	.	.	.	.	.	.	.	C	8.657	0.899548	0.17686	0.0	1.22E-4	ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	D;D;T;D	0.90955	-2.68;-2.76;-1.33;-1.64	4.67	0.715	0.18186	.	0.598474	0.14883	N	0.292846	D	0.84745	0.5540	L	0.55103	1.725	0.09310	N	1	B;B	0.17465	0.013;0.022	B;B	0.09377	0.004;0.004	T	0.71958	-0.4435	10	0.39692	T	0.17	.	4.7884	0.13236	0.1504:0.5922:0.0:0.2574	.	2171;2171	A8TX70;A8TX70-2	CO6A5_HUMAN;.	L	2171;2171;114;6	ENSP00000390895:P2171L;ENSP00000265379:P2171L;ENSP00000362250:P114L;ENSP00000424968:P6L	ENSP00000265379:P2171L	P	+	2	0	COL6A5	131645034	0.000000	0.05858	0.018000	0.16275	0.108000	0.19459	-0.404000	0.07205	0.015000	0.14971	0.544000	0.68410	CCG		0.373	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		5	91	0	0	0	0.217242	0	5	91				
ZNF451	26036	broad.mit.edu	37	6	57012950	57012950	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr6:57012950C>A	ENST00000370706.4	+	10	2311	c.2067C>A	c.(2065-2067)caC>caA	p.H689Q	RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.H689Q|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.H689Q|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	689					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGAGGAGCACCACAGCATAG	0.343																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2065-2067)caC>caA		zinc finger protein 451							47.0	47.0	47.0					6																	57012950		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57012950C>A	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2067C>A	6.37:g.57012950C>A	ENSP00000359740:p.His689Gln		Somatic				RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.H689Q|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.H689Q|RP11-203B9.4_ENST00000589549.1_RNA	p.H689Q	NM_001031623.2	NP_001026794.1	WXS	Illumina GAIIx	Phase_I	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2311	+	Lung NSC(77;0.145)		689					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.2067C>A	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	C	5.363	0.252267	0.10185	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.20463	2.08;2.08;2.07	5.4	-2.92	0.05615	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	1.036270	0.07566	N	0.917763	T	0.03178	0.0093	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.001;0.002;0.001	T	0.49184	-0.8966	10	0.26408	T	0.33	0.4133	0.7942	0.01063	0.1916:0.1921:0.2829:0.3334	.	689;689;689;689	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	Q	689	ENSP00000359740:H689Q;ENSP00000350083:H689Q;ENSP00000421645:H689Q	ENSP00000350083:H689Q	H	+	3	2	ZNF451	57120909	0.000000	0.05858	0.338000	0.25549	0.995000	0.86356	-0.442000	0.06871	-0.895000	0.03920	0.557000	0.71058	CAC		0.343	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		54	16	1	0	8.44121e-28	0.870114	1.02877e-27	54	16				
OCM	654231	broad.mit.edu	37	7	5922122	5922122	+	Splice_Site	SNP	A	A	T	rs193133847		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr7:5922122A>T	ENST00000242104.5	+	2	153		c.e2-1		OCM_ENST00000416608.1_Splice_Site	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN	oncomodulin								calcium ion binding (GO:0005509)	p.?(1)		endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		TCTGTTCTTCAGACCCAGACA	0.408																																						ENST00000242104.5																			1	Unknown(1)	p.?(1)	endometrium(1)	endometrium(1)|large_intestine(3)|lung(2)	6						c.e2-1		oncomodulin							119.0	122.0	121.0					7																	5922122		2203	4300	6503	SO:0001630	splice_region_variant	654231						calcium ion binding	g.chr7:5922122A>T	BC069468	CCDS43548.1	7p22.1	2013-01-10						"""EF-hand domain containing"""	8105	protein-coding gene	gene with protein product	"""oncomodulin 1"""	164795				1559707, 8354278	Standard	NM_001097622		Approved	OCM1	uc003spe.4	P0CE72		ENST00000242104.5:c.62-1A>T	7.37:g.5922122A>T			Somatic				OCM_ENST00000416608.1_Splice_Site		NM_001097622.1	NP_001091091.1	WXS	Illumina GAIIx	Phase_I	P0CE72	ONCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)	2	153	+		Ovarian(82;0.0694)						B9EJH7|P32930|Q6ISI5|Q75MW0	Splice_Site	SNP	ENST00000242104.5	37		CCDS43548.1	.	.	.	.	.	.	.	.	.	.	a	16.94	3.261788	0.59431	.	.	ENSG00000122543	ENST00000416608;ENST00000242104	.	.	.	3.61	3.61	0.41365	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.446	0.50123	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OCM	5888648	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	7.386000	0.79775	1.434000	0.47414	0.405000	0.27470	.		0.408	OCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340372.1	NM_001097622	Intron	71	167	0	0	0	0.870114	0	71	167				
OAS2	4939	broad.mit.edu	37	12	113446979	113446979	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr12:113446979G>T	ENST00000342315.4	+	10	2197	c.1983G>T	c.(1981-1983)aaG>aaT	p.K661N	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.K661N	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	661	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAGAAGCAAAGGAATGGTTAT	0.522																																					Pancreas(199;709 2232 18410 33584 35052)	ENST00000392583.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1981-1983)aaG>aaT		2'-5'-oligoadenylate synthetase 2, 69/71kDa							269.0	255.0	260.0					12																	113446979		2203	4300	6503	SO:0001583	missense	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113446979G>T	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1983G>T	12.37:g.113446979G>T	ENSP00000342278:p.Lys661Asn		Somatic				RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.K661N	p.K661N	NM_002535.2	NP_002526.2	WXS	Illumina GAIIx	Phase_I	P29728	OAS2_HUMAN			10	2190	+			661			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.1983G>T	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	14.69	2.609459	0.46527	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.44881	0.91;0.91	4.39	-3.9	0.04181	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	1.275380	0.05854	N	0.621750	T	0.37758	0.1015	L	0.41824	1.3	0.09310	N	1	D;P	0.54772	0.968;0.897	P;P	0.55303	0.773;0.624	T	0.32981	-0.9886	10	0.23302	T	0.38	-19.1748	0.9438	0.01361	0.3855:0.2198:0.2517:0.1431	.	661;661	P29728;P29728-2	OAS2_HUMAN;.	N	661	ENSP00000342278:K661N;ENSP00000376362:K661N	ENSP00000342278:K661N	K	+	3	2	OAS2	111931362	0.000000	0.05858	0.000000	0.03702	0.348000	0.29142	-0.531000	0.06171	-0.676000	0.05238	0.655000	0.94253	AAG		0.522	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			153	266	1	0	4.07331e-60	0.870114	5.04315e-60	153	266				
TBC1D5	9779	broad.mit.edu	37	3	17226605	17226605	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr3:17226605A>C	ENST00000253692.7	-	19	3512	c.1848T>G	c.(1846-1848)caT>caG	p.H616Q	TBC1D5_ENST00000446818.2_Missense_Mutation_p.H638Q|TBC1D5_ENST00000429383.4_Missense_Mutation_p.H616Q|TBC1D5_ENST00000429924.2_Missense_Mutation_p.H590Q|TBC1D5_ENST00000414318.2_5'UTR	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	616						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ACTTACCAAGATGAGTGTCCA	0.423																																						ENST00000253692.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						c.(1846-1848)caT>caG		TBC1 domain family, member 5							148.0	123.0	132.0					3																	17226605		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17226605A>C	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1848T>G	3.37:g.17226605A>C	ENSP00000253692:p.His616Gln		Somatic				TBC1D5_ENST00000429383.4_Missense_Mutation_p.H616Q|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.H638Q|TBC1D5_ENST00000429924.2_Missense_Mutation_p.H590Q	p.H616Q	NM_014744.2	NP_055559.1	WXS	Illumina GAIIx	Phase_I	Q92609	TBCD5_HUMAN			19	3512	-			616					A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.1848T>G	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.578631	0.46006	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.67865	1.39;1.39;1.39;-0.29	5.87	3.18	0.36537	.	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	L	0.27053	0.805	0.53688	D	0.999979	D;D;D;D	0.89917	0.999;1.0;0.997;0.997	D;D;P;P	0.78314	0.991;0.972;0.897;0.897	T	0.67711	-0.5600	10	0.46703	T	0.11	-25.1933	10.293	0.43608	0.8398:0.0:0.1602:0.0	.	590;638;616;616	C9J3F6;C9JP52;B9A6K1;Q92609	.;.;.;TBCD5_HUMAN	Q	616;616;638;590	ENSP00000253692:H616Q;ENSP00000398127:H616Q;ENSP00000402935:H638Q;ENSP00000411925:H590Q	ENSP00000253692:H616Q	H	-	3	2	TBC1D5	17201609	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	2.700000	0.47085	1.053000	0.40415	0.533000	0.62120	CAT		0.423	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		102	23	0	0	0	0.870114	0	102	23				
EIF3E	3646	broad.mit.edu	37	8	109260914	109260914	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr8:109260914C>A	ENST00000220849.5	-	1	80	c.18G>T	c.(16-18)ttG>ttT	p.L6F	EIF3E_ENST00000519030.1_5'UTR	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TGCGAGTAGTCAAGTCGTACT	0.498																																					GBM(15;360 410 8460 34179 52246)	ENST00000220849.5																		EIF3E/RSPO2(6)	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(16-18)ttG>ttT		eukaryotic translation initiation factor 3, subunit E							88.0	78.0	81.0					8																	109260914		2203	4300	6503	SO:0001583	missense	3646				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	g.chr8:109260914C>A	U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.18G>T	8.37:g.109260914C>A	ENSP00000220849:p.Leu6Phe		Somatic				EIF3E_ENST00000519030.1_5'UTR	p.L6F	NM_001568.2	NP_001559.1	WXS	Illumina GAIIx	Phase_I	P60228	EIF3E_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		1	80	-			6			Sufficient for interaction with EPAS1.			Missense_Mutation	SNP	ENST00000220849.5	37	c.18G>T	CCDS6308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.062202|4.062202	0.76187|0.76187	.|.	.|.	ENSG00000104408|ENSG00000104408	ENST00000220849;ENST00000519627|ENST00000521440	T;T|.	0.63744|.	-0.06;0.19|.	5.28|5.28	2.42|2.42	0.29668|0.29668	Eukaryotic translation initiation factor 3 (eIF3), subunit 6, N-terminal (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|.	0.76884|.	0.4050|.	M|M	0.92555|0.92555	3.32|3.32	0.80722|0.80722	D|D	1|1	D;P;D|.	0.63880|.	0.993;0.946;0.993|.	D;P;D|.	0.70935|.	0.95;0.839;0.971|.	T|.	0.76537|.	-0.2923|.	10|.	0.87932|.	D|.	0|.	-10.6685|-10.6685	5.5956|5.5956	0.17325|0.17325	0.1378:0.6442:0.0:0.2181|0.1378:0.6442:0.0:0.2181	.|.	6;6;6|.	Q6IAX5;B2R806;P60228|.	.;.;EIF3E_HUMAN|.	F|L	6|5	ENSP00000220849:L6F;ENSP00000430839:L6F|.	ENSP00000220849:L6F|.	L|X	-|-	3|2	2|2	EIF3E|EIF3E	109330090|109330090	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.471000|1.471000	0.35365|0.35365	0.809000|0.809000	0.34255|0.34255	-0.137000|-0.137000	0.14449|0.14449	TTG|TGA		0.498	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		36	66	1	0	9.04072e-19	0.779181	1.0525e-18	36	66				
USP37	57695	broad.mit.edu	37	2	219330803	219330803	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr2:219330803T>C	ENST00000258399.3	-	21	2808	c.2396A>G	c.(2395-2397)cAg>cGg	p.Q799R	USP37_ENST00000454775.1_Missense_Mutation_p.Q799R|USP37_ENST00000415516.1_Missense_Mutation_p.Q705R|USP37_ENST00000418019.1_Missense_Mutation_p.Q799R	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	799	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CATATCATACTGCTGGAGCCA	0.423																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(2395-2397)cAg>cGg		ubiquitin specific peptidase 37							174.0	167.0	170.0					2																	219330803		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219330803T>C	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2396A>G	2.37:g.219330803T>C	ENSP00000258399:p.Gln799Arg		Somatic				USP37_ENST00000415516.1_Missense_Mutation_p.Q705R|USP37_ENST00000454775.1_Missense_Mutation_p.Q799R|USP37_ENST00000418019.1_Missense_Mutation_p.Q799R	p.Q799R	NM_020935.2	NP_065986.2	WXS	Illumina GAIIx	Phase_I	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	21	2808	-		Renal(207;0.0915)	799					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.2396A>G	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.752562	0.89753	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.50001	0.84;0.84;0.76;0.84	5.46	5.46	0.80206	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	L	0.61218	1.895	0.80722	D	1	D;D	0.71674	0.992;0.998	D;D	0.76071	0.979;0.987	T	0.68674	-0.5346	10	0.87932	D	0	-8.0988	14.2727	0.66162	0.0:0.0:0.0:1.0	.	705;799	Q86T82-2;Q86T82	.;UBP37_HUMAN	R	799;799;705;799	ENSP00000258399:Q799R;ENSP00000393662:Q799R;ENSP00000400902:Q705R;ENSP00000396585:Q799R	ENSP00000258399:Q799R	Q	-	2	0	USP37	219039047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.394000	0.79862	2.291000	0.77112	0.533000	0.62120	CAG		0.423	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		102	140	0	0	0	0.870114	0	102	140				
ZNF460	10794	broad.mit.edu	37	19	57802196	57802196	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:57802196A>G	ENST00000360338.3	+	3	609	c.287A>G	c.(286-288)cAa>cGa	p.Q96R	ZNF460_ENST00000537645.1_Missense_Mutation_p.Q55R	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	96	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCCATGGATCAAGATGGGCCA	0.512																																						ENST00000360338.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(286-288)cAa>cGa		zinc finger protein 460							81.0	79.0	80.0					19																	57802196		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57802196A>G	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.287A>G	19.37:g.57802196A>G	ENSP00000353491:p.Gln96Arg		Somatic				ZNF460_ENST00000537645.1_Missense_Mutation_p.Q55R	p.Q96R	NM_006635.3	NP_006626.3	WXS	Illumina GAIIx	Phase_I	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	609	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	96			KRAB.		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.287A>G	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	A	9.853	1.194187	0.22037	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.38240	1.15;1.15	2.21	-0.114	0.13564	Krueppel-associated box (1);	.	.	.	.	T	0.19805	0.0476	L	0.29908	0.895	0.09310	N	1	B	0.21225	0.053	B	0.09377	0.004	T	0.21109	-1.0255	9	0.25751	T	0.34	.	2.422	0.04450	0.3912:0.2936:0.3152:0.0	.	96	Q14592	ZN460_HUMAN	R	55;96	ENSP00000446167:Q55R;ENSP00000353491:Q96R	ENSP00000353491:Q96R	Q	+	2	0	ZNF460	62494008	0.000000	0.05858	0.003000	0.11579	0.118000	0.20060	-0.422000	0.07043	0.091000	0.17302	0.528000	0.53228	CAA		0.512	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		50	29	0	0	0	0.870114	0	50	29				
TMCO3	55002	broad.mit.edu	37	13	114150177	114150177	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr13:114150177A>G	ENST00000434316.2	+	2	640	c.281A>G	c.(280-282)cAc>cGc	p.H94R	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.H94R	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	94						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TTTCAGGTGCACACGTTTGAA	0.463																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(280-282)cAc>cGc		transmembrane and coiled-coil domains 3							59.0	61.0	60.0					13																	114150177		2203	4300	6503	SO:0001583	missense	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114150177A>G	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.281A>G	13.37:g.114150177A>G	ENSP00000389399:p.His94Arg		Somatic				TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.H94R	p.H94R	NM_017905.4	NP_060375.4	WXS	Illumina GAIIx	Phase_I	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		2	640	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	94					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	c.281A>G	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587092	0.66105	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.31769	1.48	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.35913	0.0948	M	0.71581	2.175	0.80722	D	1	P;P	0.44006	0.73;0.824	B;B	0.38880	0.093;0.284	T	0.39143	-0.9628	10	0.72032	D	0.01	-12.5082	15.5773	0.76400	1.0:0.0:0.0:0.0	.	94;94	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	R	94	ENSP00000389399:H94R	ENSP00000364540:H94R	H	+	2	0	TMCO3	113198178	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	8.907000	0.92634	2.094000	0.63399	0.454000	0.30748	CAC		0.463	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		32	68	0	0	0	0.769981	0	32	68				
EZH1	2145	broad.mit.edu	37	17	40864465	40864465	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr17:40864465C>A	ENST00000428826.2	-	12	1364	c.1243G>T	c.(1243-1245)Gct>Tct	p.A415S	EZH1_ENST00000590078.1_Missense_Mutation_p.A345S|EZH1_ENST00000435174.1_Missense_Mutation_p.A276S|EZH1_ENST00000585893.1_Missense_Mutation_p.A375S|EZH1_ENST00000415827.2_Missense_Mutation_p.A406S|EZH1_ENST00000592743.1_Missense_Mutation_p.A415S|EZH1_ENST00000590783.1_5'Flank			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	415					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GCTGGACTAGCCTTCTGTTTT	0.498																																						ENST00000428826.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(1243-1245)Gct>Tct		enhancer of zeste homolog 1 (Drosophila)							130.0	122.0	124.0					17																	40864465		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40864465C>A		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1243G>T	17.37:g.40864465C>A	ENSP00000404658:p.Ala415Ser		Somatic				EZH1_ENST00000585893.1_Missense_Mutation_p.A375S|EZH1_ENST00000592743.1_Missense_Mutation_p.A415S|EZH1_ENST00000435174.1_Missense_Mutation_p.A276S|EZH1_ENST00000415827.2_Missense_Mutation_p.A406S|EZH1_ENST00000590078.1_Missense_Mutation_p.A345S	p.A415S			WXS	Illumina GAIIx	Phase_I	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	12	1364	-		Breast(137;0.00104)	415					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.1243G>T	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	C	5.175	0.217825	0.09810	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.77877	-1.13;-1.13	5.23	3.22	0.36961	.	0.222929	0.46145	N	0.000301	T	0.49830	0.1580	N	0.08118	0	0.26658	N	0.971968	B;B;B;B;B	0.15719	0.014;0.001;0.001;0.001;0.0	B;B;B;B;B	0.18871	0.023;0.001;0.003;0.001;0.001	T	0.36578	-0.9742	10	0.06494	T	0.89	.	4.8677	0.13616	0.2631:0.5319:0.1303:0.0747	.	276;375;421;345;415	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	S	418;415;375;276	ENSP00000404658:A415S;ENSP00000404071:A276S	ENSP00000264646:A418S	A	-	1	0	EZH1	38117991	0.538000	0.26394	0.987000	0.45799	0.927000	0.56198	0.581000	0.23819	0.750000	0.32877	-1.047000	0.02352	GCT		0.498	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		61	110	1	0	3.79397e-19	0.870114	4.48378e-19	61	110				
NMT1	4836	broad.mit.edu	37	17	43163945	43163945	+	Missense_Mutation	SNP	G	G	C	rs563736659		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr17:43163945G>C	ENST00000592782.1	+	4	441	c.310G>C	c.(310-312)Gga>Cga	p.G104R	NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Missense_Mutation_p.G104R			P30419	NMT1_HUMAN	N-myristoyltransferase 1	104					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				AGTGGGTCAGGGACCTGCCAA	0.517																																						ENST00000592782.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8						c.(310-312)Gga>Cga		N-myristoyltransferase 1							90.0	71.0	78.0					17																	43163945		2203	4300	6503	SO:0001583	missense	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43163945G>C		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.310G>C	17.37:g.43163945G>C	ENSP00000468424:p.Gly104Arg		Somatic				NMT1_ENST00000258960.2_Missense_Mutation_p.G104R|NMT1_ENST00000590114.1_3'UTR	p.G104R			WXS	Illumina GAIIx	Phase_I	P30419	NMT1_HUMAN			4	441	+		Prostate(33;0.155)	104					A8K7C1|Q9UE09	Missense_Mutation	SNP	ENST00000592782.1	37	c.310G>C	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285732	0.80803	.	.	ENSG00000136448	ENST00000258960;ENST00000543908	T;T	0.49139	0.79;1.01	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.55986	0.1955	M	0.75085	2.285	0.80722	D	1	B	0.29085	0.232	B	0.35413	0.202	T	0.53208	-0.8471	10	0.37606	T	0.19	-10.6942	19.6556	0.95837	0.0:0.0:1.0:0.0	.	104	P30419	NMT1_HUMAN	R	104	ENSP00000258960:G104R;ENSP00000439263:G104R	ENSP00000258960:G104R	G	+	1	0	NMT1	40519471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.544000	0.98092	2.882000	0.98803	0.655000	0.94253	GGA		0.517	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		35	56	0	0	0	0.788014	0	35	56				
FAM161B	145483	broad.mit.edu	37	14	74407656	74407656	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr14:74407656G>A	ENST00000534936.1	-	5	1478	c.1373C>T	c.(1372-1374)gCc>gTc	p.A458V	RP5-1021I20.5_ENST00000555916.1_RNA|FAM161B_ENST00000286544.3_Missense_Mutation_p.A521V			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	458										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CTTCCTGGTGGCATCTGTGAT	0.592																																						ENST00000286544.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						c.(1561-1563)gCc>gTc		family with sequence similarity 161, member B							147.0	130.0	135.0					14																	74407656		2203	4300	6503	SO:0001583	missense	145483							g.chr14:74407656G>A	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.1373C>T	14.37:g.74407656G>A	ENSP00000445326:p.Ala458Val		Somatic				FAM161B_ENST00000534936.1_Missense_Mutation_p.A458V	p.A521V	NM_152445.2	NP_689658.2	WXS	Illumina GAIIx	Phase_I					5	1760	-								B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37	c.1562C>T		.	.	.	.	.	.	.	.	.	.	G	33	5.209326	0.95069	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.27256	1.68;1.68	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000015	T	0.54287	0.1849	M	0.80616	2.505	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.58769	-0.7578	10	0.72032	D	0.01	-15.4359	16.9235	0.86169	0.0:0.0:1.0:0.0	.	458	Q96MY7	F161B_HUMAN	V	521;458	ENSP00000286544:A521V;ENSP00000445326:A458V	ENSP00000286544:A521V	A	-	2	0	FAM161B	73477409	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.059000	0.71133	2.668000	0.90789	0.655000	0.94253	GCC		0.592	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		73	56	0	0	0	0.870114	0	73	56				
NOL6	65083	broad.mit.edu	37	9	33469503	33469503	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr9:33469503G>A	ENST00000379471.2	-	5	808	c.721C>T	c.(721-723)Ccg>Tcg	p.P241S	NOL6_ENST00000455041.2_Missense_Mutation_p.P181S|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	241					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TCACCACGCGGCCGCAGCAAC	0.597																																						ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(721-723)Ccg>Tcg		nucleolar protein 6 (RNA-associated)							89.0	87.0	87.0					9																	33469503		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33469503G>A	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.721C>T	9.37:g.33469503G>A	ENSP00000368784:p.Pro241Ser		Somatic				NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Missense_Mutation_p.P181S	p.P241S			WXS	Illumina GAIIx	Phase_I	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	5	808	-			241					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.721C>T		.	.	.	.	.	.	.	.	.	.	G	19.82	3.898102	0.72639	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000325914;ENST00000455041	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.69205	0.3085	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0	D;D;D;D;D	0.83275	0.996;0.989;0.989;0.983;0.993	T	0.65985	-0.6035	10	0.36615	T	0.2	.	19.569	0.95405	0.0:0.0:1.0:0.0	.	181;241;241;241;241	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	S	241;241;241;241;181	ENSP00000313978:P241S;ENSP00000297990:P241S;ENSP00000368784:P241S;ENSP00000395915:P181S	ENSP00000297990:P241S	P	-	1	0	NOL6	33459503	1.000000	0.71417	0.998000	0.56505	0.551000	0.35334	6.473000	0.73572	2.636000	0.89361	0.561000	0.74099	CCG		0.597	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		5	154	0	0	0	0.217242	0	5	154				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000564451.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																197331							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G			Somatic				TUBB8P7_ENST00000567960.1_RNA				WXS	Illumina GAIIx	Phase_I					0	1255	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	48	0	0	0	0.115264	0	3	48				
POMC	5443	broad.mit.edu	37	2	25384345	25384345	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr2:25384345G>A	ENST00000405623.1	-	3	864	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000380794.1_Missense_Mutation_p.R137C|POMC_ENST00000395826.2_Missense_Mutation_p.R137C|POMC_ENST00000264708.3_Missense_Mutation_p.R137C			P01189	COLI_HUMAN	proopiomelanocortin	137					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	GAGTAGGAGCGCTTGCCCTCG	0.726																																					Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(409-411)Cgc>Tgc		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						9.0	10.0	10.0					2																	25384345		2157	4239	6396	SO:0001583	missense	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25384345G>A		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.409C>T	2.37:g.25384345G>A	ENSP00000384092:p.Arg137Cys		Somatic				POMC_ENST00000395826.2_Missense_Mutation_p.R137C|POMC_ENST00000380794.1_Missense_Mutation_p.R137C|POMC_ENST00000264708.3_Missense_Mutation_p.R137C	p.R137C			WXS	Illumina GAIIx	Phase_I	P01189	COLI_HUMAN			3	864	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		137					P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	ENST00000405623.1	37	c.409C>T	CCDS1717.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224818	0.79576	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.73	5.16	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.89234	0.6657	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91189	0.4982	10	0.87932	D	0	-5.7793	13.5313	0.61623	0.0:0.0:0.7601:0.2399	.	137	P01189	COLI_HUMAN	C	137	ENSP00000370171:R137C;ENSP00000384092:R137C;ENSP00000264708:R137C;ENSP00000379170:R137C;ENSP00000387993:R137C	ENSP00000264708:R137C	R	-	1	0	POMC	25237849	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.185000	0.58330	2.409000	0.81822	0.462000	0.41574	CGC		0.726	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		8	17	0	0	0	0.278610	0	8	17				
KCNH8	131096	broad.mit.edu	37	3	19554581	19554581	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr3:19554581G>T	ENST00000328405.2	+	13	2465	c.2199G>T	c.(2197-2199)agG>agT	p.R733S		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	733					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCTGCACAAGGGGATCTTCTT	0.542																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(2197-2199)agG>agT		potassium voltage-gated channel, subfamily H (eag-related), member 8							73.0	61.0	65.0					3																	19554581		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19554581G>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2199G>T	3.37:g.19554581G>T	ENSP00000328813:p.Arg733Ser		Somatic					p.R733S	NM_144633.2	NP_653234.2	WXS	Illumina GAIIx	Phase_I	Q96L42	KCNH8_HUMAN			13	2465	+			733					B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.2199G>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	6.620	0.482800	0.12581	.	.	ENSG00000183960	ENST00000328405	D	0.98381	-4.9	5.68	1.36	0.22044	.	0.000000	0.34245	U	0.004123	D	0.94820	0.8327	L	0.44542	1.39	0.33562	D	0.597511	B	0.09022	0.002	B	0.06405	0.002	D	0.91069	0.4891	9	.	.	.	.	7.7607	0.28951	0.4795:0.0:0.5205:0.0	.	733	Q96L42	KCNH8_HUMAN	S	733	ENSP00000328813:R733S	.	R	+	3	2	KCNH8	19529585	0.992000	0.36948	0.183000	0.23137	0.436000	0.31835	0.783000	0.26802	0.342000	0.23796	0.585000	0.79938	AGG		0.542	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		53	23	1	0	2.81731e-22	0.870114	3.38077e-22	53	23				
SLC30A1	7779	broad.mit.edu	37	1	211749361	211749361	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr1:211749361A>T	ENST00000367001.4	-	2	1022	c.893T>A	c.(892-894)aTt>aAt	p.I298N		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	298					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		AGTACTATTAATTATTTCTAC	0.373																																						ENST00000367001.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11						c.(892-894)aTt>aAt		solute carrier family 30 (zinc transporter), member 1							122.0	130.0	127.0					1																	211749361		2203	4300	6503	SO:0001583	missense	7779				cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity	g.chr1:211749361A>T	AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"""Solute carriers"""	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.893T>A	1.37:g.211749361A>T	ENSP00000355968:p.Ile298Asn		Somatic					p.I298N	NM_021194.2	NP_067017.2	WXS	Illumina GAIIx	Phase_I	Q9Y6M5	ZNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)	2	1022	-			298					Q0VAK9|Q9BZF6	Missense_Mutation	SNP	ENST00000367001.4	37	c.893T>A	CCDS1499.1	.	.	.	.	.	.	.	.	.	.	A	8.847	0.943553	0.18281	.	.	ENSG00000170385	ENST00000367001	T	0.65549	-0.16	5.44	4.24	0.50183	.	0.316520	0.33496	N	0.004844	T	0.31136	0.0787	N	0.02539	-0.55	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.10613	-1.0622	10	0.23891	T	0.37	-3.7793	6.6251	0.22824	0.7872:0.0:0.0746:0.1382	.	298	Q9Y6M5	ZNT1_HUMAN	N	298	ENSP00000355968:I298N	ENSP00000355968:I298N	I	-	2	0	SLC30A1	209815984	0.009000	0.17119	0.339000	0.25562	0.969000	0.65631	1.387000	0.34430	2.061000	0.61500	0.460000	0.39030	ATT		0.373	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2			122	195	0	0	0	0.870114	0	122	195				
TMEM160	54958	broad.mit.edu	37	19	47549310	47549310	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:47549310G>A	ENST00000253047.6	-	3	517	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S		NM_017854.1	NP_060324.1	Q9NX00	TM160_HUMAN	transmembrane protein 160	168						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				lung(1)	1		all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242)		TCGTCCTCGGGCACCAGCTCC	0.766																																						ENST00000253047.6																			0				lung(1)	1						c.(502-504)Ccc>Tcc		transmembrane protein 160							4.0	4.0	4.0					19																	47549310		1938	3884	5822	SO:0001583	missense	54958					integral to membrane		g.chr19:47549310G>A	AK000519	CCDS12695.1	19q13.32	2008-02-05				ENSG00000130748			26042	protein-coding gene	gene with protein product						12477932	Standard	XM_005259027		Approved	FLJ20512	uc002pfz.3	Q9NX00		ENST00000253047.6:c.502C>T	19.37:g.47549310G>A	ENSP00000253047:p.Pro168Ser		Somatic					p.P168S	NM_017854.1	NP_060324.1	WXS	Illumina GAIIx	Phase_I	Q9NX00	TM160_HUMAN		all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242)	3	517	-		all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15)	168					Q9BU41	Missense_Mutation	SNP	ENST00000253047.6	37	c.502C>T	CCDS12695.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393146	0.42410	.	.	ENSG00000130748	ENST00000253047	T	0.41758	0.99	4.0	4.0	0.46444	.	0.211231	0.28425	N	0.015389	T	0.34716	0.0907	N	0.19112	0.55	0.36086	D	0.843113	D	0.56968	0.978	P	0.53146	0.719	T	0.14980	-1.0453	10	0.07175	T	0.84	-15.0937	13.1214	0.59329	0.0:0.0:1.0:0.0	.	168	Q9NX00	TM160_HUMAN	S	168	ENSP00000253047:P168S	ENSP00000253047:P168S	P	-	1	0	TMEM160	52241150	1.000000	0.71417	0.996000	0.52242	0.793000	0.44817	6.361000	0.73070	2.075000	0.62263	0.297000	0.19635	CCC		0.766	TMEM160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466666.1	NM_017854		4	0	0	0	0	0.184627	0	4	0				
ANKRD34A	284615	broad.mit.edu	37	1	145474332	145474332	+	Missense_Mutation	SNP	G	G	C	rs201099605		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr1:145474332G>C	ENST00000323397.4	+	4	2297	c.1004G>C	c.(1003-1005)cGc>cCc	p.R335P	RP11-315I20.1_ENST00000600340.1_RNA|LIX1L_ENST00000369308.3_5'Flank	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	335	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAACTGAGCCGCATGGAGCCA	0.652																																						ENST00000323397.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1003-1005)cGc>cCc		ankyrin repeat domain 34A							42.0	46.0	44.0					1																	145474332		2203	4300	6503	SO:0001583	missense	284615							g.chr1:145474332G>C	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.1004G>C	1.37:g.145474332G>C	ENSP00000314103:p.Arg335Pro		Somatic					p.R335P	NM_001039888.2	NP_001034977.1	WXS	Illumina GAIIx	Phase_I	Q69YU3	AN34A_HUMAN			4	2297	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		335			Pro-rich.		B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.1004G>C	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164945	0.38217	.	.	ENSG00000181039	ENST00000323397	T	0.75260	-0.92	5.12	5.12	0.69794	.	0.568387	0.17016	N	0.190303	T	0.68311	0.2987	L	0.42245	1.32	0.44956	D	0.997971	D	0.67145	0.996	P	0.52514	0.701	T	0.64210	-0.6461	10	0.26408	T	0.33	-12.4919	16.1417	0.81533	0.0:0.0:1.0:0.0	.	335	Q69YU3	AN34A_HUMAN	P	335	ENSP00000314103:R335P	ENSP00000314103:R335P	R	+	2	0	ANKRD34A	144185689	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.003000	0.57061	2.663000	0.90544	0.585000	0.79938	CGC		0.652	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			31	86	0	0	0	0.740014	0	31	86				
ATP5B	506	broad.mit.edu	37	12	57037243	57037243	+	Silent	SNP	A	A	G			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr12:57037243A>G	ENST00000262030.3	-	5	786	c.736T>C	c.(736-738)Tta>Cta	p.L246L	ATP5B_ENST00000550162.1_5'Flank|ATP5B_ENST00000552919.1_Silent_p.L246L|SNORD59A_ENST00000384304.1_RNA	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	246					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCATGGTATAAATCATTGCCT	0.438																																						ENST00000262030.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(736-738)Tta>Cta		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							134.0	123.0	127.0					12																	57037243		2203	4300	6503	SO:0001819	synonymous_variant	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57037243A>G	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.736T>C	12.37:g.57037243A>G			Somatic				ATP5B_ENST00000552919.1_Silent_p.L246L	p.L246L	NM_001686.3	NP_001677.2	WXS	Illumina GAIIx	Phase_I	P06576	ATPB_HUMAN			5	786	-			246					A8K4X0|Q14283	Silent	SNP	ENST00000262030.3	37	c.736T>C	CCDS8924.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329842	0.24167	.	.	ENSG00000110955	ENST00000552959	.	.	.	6.03	3.71	0.42584	.	.	.	.	.	T	0.59088	0.2168	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55617	-0.8113	4	.	.	.	-8.0352	9.2371	0.37473	0.852:0.0:0.148:0.0	.	.	.	.	S	182	.	.	F	-	2	0	ATP5B	55323510	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.536000	0.53582	1.103000	0.41568	0.455000	0.32223	TTT		0.438	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		74	154	0	0	0	0.870114	0	74	154				
IRX1	79192	broad.mit.edu	37	5	3599646	3599646	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr5:3599646C>A	ENST00000302006.3	+	2	636	c.584C>A	c.(583-585)gCg>gAg	p.A195E	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	195					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACATGGGGAGCGCGCAGCAAG	0.632																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(583-585)gCg>gAg		iroquois homeobox 1							87.0	75.0	79.0					5																	3599646		2203	4300	6503	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599646C>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.584C>A	5.37:g.3599646C>A	ENSP00000305244:p.Ala195Glu		Somatic				CTD-2012M11.3_ENST00000559410.1_RNA	p.A195E	NM_024337.3	NP_077313.3	WXS	Illumina GAIIx	Phase_I	P78414	IRX1_HUMAN			2	636	+			195					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.584C>A	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288624	0.23478	.	.	ENSG00000170549	ENST00000302006	T	0.58210	0.35	4.65	3.78	0.43462	Homeodomain-related (1);	0.276248	0.35320	N	0.003282	T	0.42743	0.1216	L	0.36672	1.1	0.40462	D	0.98025	P	0.38745	0.645	B	0.37304	0.246	T	0.41592	-0.9500	10	0.51188	T	0.08	.	12.3445	0.55114	0.0:0.9163:0.0:0.0837	.	195	P78414	IRX1_HUMAN	E	195	ENSP00000305244:A195E	ENSP00000305244:A195E	A	+	2	0	IRX1	3652646	0.677000	0.27577	0.761000	0.31378	0.272000	0.26649	4.823000	0.62694	0.921000	0.36994	-0.192000	0.12808	GCG		0.632	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		42	54	1	0	1.96642e-18	0.827153	2.2556e-18	42	54				
MGAM	8972	broad.mit.edu	37	7	141732690	141732690	+	Silent	SNP	T	T	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr7:141732690T>C	ENST00000549489.2	+	14	1745	c.1650T>C	c.(1648-1650)aaT>aaC	p.N550N	MGAM_ENST00000475668.2_Silent_p.N550N	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	550	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACAACCTAAATAATCCCCCAT	0.358																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(1648-1650)aaT>aaC		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						120.0	109.0	112.0					7																	141732690		1841	4092	5933	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141732690T>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1650T>C	7.37:g.141732690T>C			Somatic				MGAM_ENST00000549489.2_Silent_p.N550N	p.N550N			WXS	Illumina GAIIx	Phase_I	O43451	MGA_HUMAN			14	1704	+	Melanoma(164;0.0272)		550			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.1650T>C	CCDS47727.1																																																																																				0.358	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			17	28	0	0	0	0.557998	0	17	28				
TMCO3	55002	broad.mit.edu	37	13	114150178	114150178	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr13:114150178C>A	ENST00000434316.2	+	2	641	c.282C>A	c.(280-282)caC>caA	p.H94Q	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.H94Q	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	94						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TTCAGGTGCACACGTTTGAAA	0.463																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(280-282)caC>caA		transmembrane and coiled-coil domains 3							59.0	61.0	60.0					13																	114150178		2203	4300	6503	SO:0001583	missense	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114150178C>A	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.282C>A	13.37:g.114150178C>A	ENSP00000389399:p.His94Gln		Somatic				TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.H94Q	p.H94Q	NM_017905.4	NP_060375.4	WXS	Illumina GAIIx	Phase_I	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		2	641	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	94					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	c.282C>A	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284812	0.40394	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.32023	1.47	5.46	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	M	0.71581	2.175	0.54753	D	0.999981	P;P	0.39352	0.539;0.669	B;B	0.34824	0.093;0.19	T	0.08953	-1.0697	10	0.30078	T	0.28	-12.5082	12.438	0.55610	0.0:0.8598:0.0:0.1402	.	94;94	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	Q	94	ENSP00000389399:H94Q	ENSP00000364540:H94Q	H	+	3	2	TMCO3	113198179	1.000000	0.71417	0.995000	0.50966	0.440000	0.31957	2.318000	0.43779	1.326000	0.45319	0.555000	0.69702	CAC		0.463	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		32	70	1	0	1.04352e-10	0.788014	1.17963e-10	32	70				
TAB1	10454	broad.mit.edu	37	22	39811123	39811123	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr22:39811123C>T	ENST00000216160.6	+	2	208	c.146C>T	c.(145-147)cCa>cTa	p.P49L	TAB1_ENST00000331454.3_Missense_Mutation_p.P49L	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	49					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						AGCCACCCGCCAGAGGACAGC	0.592																																						ENST00000216160.6																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						c.(145-147)cCa>cTa		TGF-beta activated kinase 1/MAP3K7 binding protein 1							56.0	43.0	48.0					22																	39811123		2203	4300	6503	SO:0001583	missense	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39811123C>T	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.146C>T	22.37:g.39811123C>T	ENSP00000216160:p.Pro49Leu		Somatic				TAB1_ENST00000331454.3_Missense_Mutation_p.P49L	p.P49L	NM_006116.2	NP_006107.1	WXS	Illumina GAIIx	Phase_I	Q15750	TAB1_HUMAN			2	208	+			49					Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	c.146C>T	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	C	6.143	0.394634	0.11638	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.08546	3.08;3.08	4.85	1.47	0.22746	Protein phosphatase 2C-like (3);	0.563733	0.18500	N	0.139386	T	0.01940	0.0061	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45687	-0.9244	10	0.11485	T	0.65	.	3.2664	0.06867	0.0:0.3783:0.2099:0.4118	.	49;49;193	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	L	49	ENSP00000216160:P49L;ENSP00000333049:P49L	ENSP00000216160:P49L	P	+	2	0	TAB1	38141069	0.006000	0.16342	0.736000	0.30914	0.998000	0.95712	0.624000	0.24462	0.642000	0.30620	0.655000	0.94253	CCA		0.592	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		19	54	0	0	0	0.592651	0	19	54				
CACNB3	784	broad.mit.edu	37	12	49221583	49221583	+	Silent	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr12:49221583G>A	ENST00000301050.2	+	13	1555	c.1356G>A	c.(1354-1356)ggG>ggA	p.G452G	CACNB3_ENST00000536187.2_Silent_p.G451G|CACNB3_ENST00000547230.1_Silent_p.G411G|CACNB3_ENST00000547392.1_Silent_p.G425G|CACNB3_ENST00000540990.1_Silent_p.G439G	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	452					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGCTAACGGGCATGACCCCC	0.622																																						ENST00000301050.2																			0				autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12						c.(1354-1356)ggG>ggA		calcium channel, voltage-dependent, beta 3 subunit	Verapamil(DB00661)						88.0	82.0	84.0					12																	49221583		2203	4300	6503	SO:0001819	synonymous_variant	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49221583G>A		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.1356G>A	12.37:g.49221583G>A			Somatic				CACNB3_ENST00000540990.1_Silent_p.G439G|CACNB3_ENST00000547392.1_Silent_p.G425G|CACNB3_ENST00000536187.2_Silent_p.G451G|CACNB3_ENST00000547230.1_Silent_p.G411G	p.G452G	NM_000725.3	NP_000716.2	WXS	Illumina GAIIx	Phase_I	P54284	CACB3_HUMAN			13	1555	+			452					A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Silent	SNP	ENST00000301050.2	37	c.1356G>A	CCDS8769.1																																																																																				0.622	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1			4	95	0	0	0	0.184627	0	4	95				
ZNF257	113835	broad.mit.edu	37	19	22271410	22271410	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:22271410A>T	ENST00000594947.1	+	4	1002	c.858A>T	c.(856-858)aaA>aaT	p.K286N		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGCCCTTCAAATATGATGAAT	0.393																																						ENST00000594947.1																			0				haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.(856-858)aaA>aaT		zinc finger protein 257							45.0	48.0	47.0					19																	22271410		2057	4231	6288	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271410A>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.858A>T	19.37:g.22271410A>T	ENSP00000470209:p.Lys286Asn		Somatic					p.K286N	NM_033468.2	NP_258429.2	WXS	Illumina GAIIx	Phase_I	Q9Y2Q1	ZN257_HUMAN			4	1002	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	286					B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.858A>T	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.951705	0.34471	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46639	0.1403	L	0.60455	1.87	0.24027	N	0.996122	P	0.49862	0.929	P	0.52856	0.711	T	0.31971	-0.9924	8	0.72032	D	0.01	.	5.6145	0.17423	1.0:0.0:0.0:0.0	.	286	Q9Y2Q1	ZN257_HUMAN	N	286;258	.	ENSP00000380312:K258N	K	+	3	2	ZNF257	22063250	0.000000	0.05858	0.166000	0.22797	0.149000	0.21700	-4.370000	0.00245	0.436000	0.26393	0.260000	0.18958	AAA		0.393	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			49	57	0	0	0	0.870114	0	49	57				
ILDR2	387597	broad.mit.edu	37	1	166890437	166890437	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr1:166890437G>A	ENST00000271417.3	-	9	1446	c.1391C>T	c.(1390-1392)gCg>gTg	p.A464V	ILDR2_ENST00000528703.1_Missense_Mutation_p.A405V|ILDR2_ENST00000526687.1_Missense_Mutation_p.A356V|ILDR2_ENST00000525740.1_Missense_Mutation_p.A337V|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.A445V	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	464					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GCCGCTGTGCGCCCGCGACTC	0.726																																						ENST00000271417.3																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(1390-1392)gCg>gTg		immunoglobulin-like domain containing receptor 2							4.0	6.0	5.0					1																	166890437		1698	3548	5246	SO:0001583	missense	387597					integral to membrane		g.chr1:166890437G>A	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1391C>T	1.37:g.166890437G>A	ENSP00000271417:p.Ala464Val		Somatic				ILDR2_ENST00000526687.1_Missense_Mutation_p.A356V|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.A405V|ILDR2_ENST00000529071.1_Missense_Mutation_p.A445V|ILDR2_ENST00000525740.1_Missense_Mutation_p.A337V	p.A464V	NM_199351.2	NP_955383.1	WXS	Illumina GAIIx	Phase_I	Q71H61	ILDR2_HUMAN			9	1446	-			464						Missense_Mutation	SNP	ENST00000271417.3	37	c.1391C>T	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507351	0.27036	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T	0.77877	0.47;-1.13;0.47;-1.13;-0.13	4.28	3.36	0.38483	.	0.681492	0.13310	N	0.397564	T	0.46034	0.1372	L	0.50333	1.59	0.09310	N	1	P	0.36483	0.555	B	0.26693	0.072	T	0.14364	-1.0475	10	0.25751	T	0.34	-3.6725	6.8907	0.24228	0.1032:0.24:0.6567:0.0	.	464	Q71H61	ILDR2_HUMAN	V	464;337;445;356;405	ENSP00000271417:A464V;ENSP00000436120:A337V;ENSP00000436882:A445V;ENSP00000434273:A356V;ENSP00000432750:A405V	ENSP00000271417:A464V	A	-	2	0	ILDR2	165157061	0.999000	0.42202	0.013000	0.15412	0.011000	0.07611	1.913000	0.39956	0.787000	0.33731	-0.259000	0.10710	GCG		0.726	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		3	8	0	0	0	0.184627	0	3	8				
SIGLEC1	6614	broad.mit.edu	37	20	3669219	3669219	+	Silent	SNP	T	T	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr20:3669219T>C	ENST00000344754.4	-	21	5117	c.5118A>G	c.(5116-5118)ccA>ccG	p.P1706P	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.H1682R	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1706					cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCCCAGGGGTGGGGCACAGG	0.577																																						ENST00000202578.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(5044-5046)cAc>cGc		sialic acid binding Ig-like lectin 1, sialoadhesin							59.0	47.0	51.0					20																	3669219		2201	4298	6499	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3669219T>C	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.5118A>G	20.37:g.3669219T>C			Somatic				SIGLEC1_ENST00000344754.4_Silent_p.P1706P	p.H1682R			WXS	Illumina GAIIx	Phase_I	Q9BZZ2	SN_HUMAN			20	5044	-			0					Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.5045A>G	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	T	0.101	-1.152221	0.01700	.	.	ENSG00000088827	ENST00000202578	T	0.21734	1.99	4.76	-9.51	0.00581	.	.	.	.	.	T	0.09202	0.0227	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22695	-1.0209	8	0.21540	T	0.41	.	6.8896	0.24222	0.1949:0.447:0.0:0.3582	.	1682	Q9BZZ2-3	.	R	1682	ENSP00000202578:H1682R	ENSP00000202578:H1682R	H	-	2	0	SIGLEC1	3617219	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.611000	0.00208	-2.842000	0.00334	-2.247000	0.00284	CAC		0.577	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		3	8	0	0	0	0.115264	0	3	8				
HPCA	3208	broad.mit.edu	37	1	33359401	33359401	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr1:33359401delA	ENST00000373467.3	+	4	622	c.520delA	c.(520-522)aaafs	p.K174fs	TMEM54_ENST00000475208.1_5'Flank	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	174	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inner ear development (GO:0048839)		actin binding (GO:0003779)|calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCGCGGGGCCAAAAGCGACCC	0.692																																						ENST00000373467.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(520-522)aafs		hippocalcin							30.0	26.0	27.0					1																	33359401		2198	4294	6492	SO:0001589	frameshift_variant	3208						actin binding|calcium ion binding	g.chr1:33359401delA	BC001777	CCDS370.1	1p35-p34.2	2013-01-10			ENSG00000121905	ENSG00000121905		"""EF-hand domain containing"""	5144	protein-coding gene	gene with protein product		142622				8166736, 9931466	Standard	NM_002143		Approved		uc001bwh.3	P84074	OTTHUMG00000004017	ENST00000373467.3:c.520delA	1.37:g.33359401delA	ENSP00000362566:p.Lys174fs		Somatic					p.K174fs	NM_002143.2	NP_002134.2	WXS	Illumina GAIIx	Phase_I	P84074	HPCA_HUMAN			4	622	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	174			EF-hand 4.		B2R9T3|D3DPQ7|P32076|P41211|P70510	Frame_Shift_Del	DEL	ENST00000373467.3	37	c.520delA	CCDS370.1																																																																																				0.692	HPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011480.1	NM_002143		2	4						2	4	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176637152	176637152	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr5:176637152delT	ENST00000439151.2	+	5	1797	c.1752delT	c.(1750-1752)actfs	p.T584fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.T481fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.T315fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.T315fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	584					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AATTTGAGACTTCAAATGGTG	0.443			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(1750-1752)acfs		nuclear receptor binding SET domain protein 1							65.0	70.0	68.0					5																	176637152		2198	4298	6496	SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176637152delT	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1752delT	5.37:g.176637152delT	ENSP00000395929:p.Thr584fs	HNSCC(47;0.14)	Somatic				NSD1_ENST00000347982.4_Frame_Shift_Del_p.T315fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.T315fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.T481fs	p.T584fs	NM_022455.4	NP_071900.2	WXS	Illumina GAIIx	Phase_I	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	1797	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	584					Q96PD8|Q96RN7	Frame_Shift_Del	DEL	ENST00000439151.2	37	c.1752delT	CCDS4412.1																																																																																				0.443	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		103	36						103	36	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123844355	123844356	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr10:123844355_123844356insC	ENST00000369005.1	+	4	2680_2681	c.2340_2341insC	c.(2341-2343)cccfs	p.P781fs	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Frame_Shift_Ins_p.P781fs|TACC2_ENST00000515273.1_Frame_Shift_Ins_p.P781fs|TACC2_ENST00000334433.3_Frame_Shift_Ins_p.P781fs|TACC2_ENST00000453444.2_Frame_Shift_Ins_p.P781fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	781					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGGTGCCACATCCCCCCCAGGG	0.639																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(2338-2343)caccccfs		transforming, acidic coiled-coil containing protein 2																																				SO:0001589	frameshift_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844355_123844356insC	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2347dupC	10.37:g.123844362_123844362dupC	ENSP00000358001:p.Pro781fs		Somatic				TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Frame_Shift_Ins_p.HP780fs|TACC2_ENST00000334433.3_Frame_Shift_Ins_p.HP780fs|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Frame_Shift_Ins_p.HP780fs|TACC2_ENST00000515273.1_Frame_Shift_Ins_p.HP780fs	p.HP780fs	NM_206862.2	NP_996744.2	WXS	Illumina GAIIx	Phase_I	O95359	TACC2_HUMAN			4	2680_2681	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	780					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Frame_Shift_Ins	INS	ENST00000369005.1	37	c.2340_2341insC	CCDS7626.1																																																																																				0.639	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			33	101						33	101	---	---	---	---
BIN2	51411	broad.mit.edu	37	12	51693052	51693055	+	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr12:51693052_51693055delTTTG	ENST00000267012.4	-	7	595_598	c.534_537delCAAA	c.(532-537)aacaaafs	p.NK178fs	BIN2_ENST00000544402.1_Frame_Shift_Del_p.NK152fs|BIN2_ENST00000604560.1_Frame_Shift_Del_p.NK151fs|BIN2_ENST00000452142.2_Frame_Shift_Del_p.NK146fs	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	178	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CAGTCTGGGCTTTGTTGAACTCTT	0.417																																						ENST00000267012.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						c.(532-537)aafs		bridging integrator 2																																				SO:0001589	frameshift_variant	51411					cytoplasm	protein binding	g.chr12:51693052_51693055delTTTG	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.534_537delCAAA	12.37:g.51693052_51693055delTTTG	ENSP00000267012:p.Asn178fs		Somatic				BIN2_ENST00000452142.2_Frame_Shift_Del_p.NK146fs|BIN2_ENST00000544402.1_Frame_Shift_Del_p.NK152fs|BIN2_ENST00000604560.1_Frame_Shift_Del_p.NK151fs	p.NK178fs	NM_016293.2	NP_057377.2	WXS	Illumina GAIIx	Phase_I	Q9UBW5	BIN2_HUMAN			7	595_598	-			178			BAR.		Q86VV0|Q9NWK4|Q9UKN4	Frame_Shift_Del	DEL	ENST00000267012.4	37	c.534_537delCAAA	CCDS8811.1																																																																																				0.417	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			59	108						59	108	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102312241	102312241	+	RNA	DEL	A	A	-	rs59860046|rs371768420	byFrequency	TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr15:102312241delA	ENST00000561463.1	+	0	13609				RN7SL209P_ENST00000488309.2_RNA					DNM1 pseudogene 47																		AGTGGCCGGGAAATTTGCTGT	0.592													|||unknown(NO_COVERAGE)	1711	0.341653	0.5144	0.3516	5008	,	,		9688	0.0565		0.5089	False		,,,				2504	0.2229					ENST00000561463.1																			0																																																			100216544							g.chr15:102312241delA	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102312241delA			Somatic								WXS	Illumina GAIIx	Phase_I					0	13609	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	3						3	3	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12642605	12642606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr17:12642605_12642606insC	ENST00000343344.4	+	7	677_678	c.677_678insC	c.(676-681)ggccccfs	p.GP226fs	MYOCD_ENST00000425538.1_Frame_Shift_Ins_p.GP226fs|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Frame_Shift_Ins_p.GP130fs			Q8IZQ8	MYCD_HUMAN	myocardin	226					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGGGGCTTGGCCCCCCCAGCA	0.584																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(676-678)gccfs		myocardin																																				SO:0001589	frameshift_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12642605_12642606insC	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.684dupC	17.37:g.12642612_12642612dupC	ENSP00000341835:p.Gly226fs		Somatic				MYOCD_ENST00000343344.4_Frame_Shift_Ins_p.A226fs|MYOCD_ENST00000395988.1_Frame_Shift_Ins_p.A130fs	p.A226fs	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	WXS	Illumina GAIIx	Phase_I	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	7	877_878	+			226					Q5UBU5|Q8N7Q1	Frame_Shift_Ins	INS	ENST00000343344.4	37	c.677_678insC	CCDS11163.1																																																																																				0.584	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		7	123						7	123	---	---	---	---
CYP4F8	11283	broad.mit.edu	37	19	15730745	15730747	+	RNA	DEL	TAA	TAA	-	rs58809247|rs4019754|rs1534812	byFrequency	TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:15730745_15730747delTAA	ENST00000441682.2	+	0	586							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						taggagcatgtaatggactcatg	0.468														1961	0.391573	0.4024	0.3415	5008	,	,		21468	0.253		0.5388	False		,,,				2504	0.4039					ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8																																						11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15730745_15730747delTAA	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15730745_15730747delTAA			Somatic								WXS	Illumina GAIIx	Phase_I	P98187	CP4F8_HUMAN			0	586	+									RNA	DEL	ENST00000441682.2	37																																																																																						0.468	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		2	4						2	4	---	---	---	---
ZNF430	80264	broad.mit.edu	37	19	21239825	21239826	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr19:21239825_21239826insT	ENST00000261560.5	+	5	892_893	c.711_712insT	c.(712-714)tgtfs	p.C238fs	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	238					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AATGTGAAGAATGTGGTAAAGT	0.332																																						ENST00000261560.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(709-714)gagtggfs		zinc finger protein 430																																				SO:0001589	frameshift_variant	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21239825_21239826insT	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.712dupT	19.37:g.21239826_21239826dupT	ENSP00000261560:p.Cys238fs		Somatic					p.EW237fs	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	WXS	Illumina GAIIx	Phase_I	Q9H8G1	ZN430_HUMAN			5	892_893	+			237					Q86V70	Frame_Shift_Ins	INS	ENST00000261560.5	37	c.711_712insT	CCDS32978.1																																																																																				0.332	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		84	84						84	84	---	---	---	---
APCDD1L-AS1	149773	broad.mit.edu	37	20	57104948	57104949	+	RNA	INS	-	-	TTT	rs11349943	byFrequency	TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr20:57104948_57104949insTTT	ENST00000427140.1	+	0	826					NR_034147.1				APCDD1L antisense RNA 1 (head to head)																		tgggcctggagttttttttttt	0.342																																						ENST00000427140.1																			0																																																			149773							g.chr20:57104948_57104949insTTT	AI077602, AK054637		20q13.32	2012-10-17	2012-10-17		ENSG00000231290	ENSG00000231290		"""Long non-coding RNAs"""	27152	non-coding RNA	RNA, long non-coding			"""APCDD1L antisense RNA 1 (non-protein coding)"", ""APCDD1L antisense RNA 1"""				Standard	NR_034147		Approved		uc002xzf.1		OTTHUMG00000032847		20.37:g.57104955_57104957dupTTT			Somatic						NR_034147.1		WXS	Illumina GAIIx	Phase_I					0	826	+									RNA	INS	ENST00000427140.1	37																																																																																						0.342	APCDD1L-AS1-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000079883.2	NR_034147		4	6						4	6	---	---	---	---
EP300-AS1	101927279	broad.mit.edu	37	22	41585697	41585697	+	RNA	DEL	T	T	-	rs574135068		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chr22:41585697delT	ENST00000420537.1	-	0	223																											ctgcTGGCCATTTTTTTTTTC	0.493																																						ENST00000420537.1																			0																																																			101927279							g.chr22:41585697delT																													22.37:g.41585697delT			Somatic								WXS	Illumina GAIIx	Phase_I					0	223	-									RNA	DEL	ENST00000420537.1	37																																																																																						0.493	RP1-85F18.5-001	KNOWN	basic	antisense	antisense	OTTHUMT00000320612.1			2	4						2	4	---	---	---	---
GAGE2A	729447	broad.mit.edu	37	X	49355892	49355893	+	Frame_Shift_Del	DEL	AC	AC	-	rs59641550		TCGA-B0-5084-01A-01D-1462-08	TCGA-B0-5084-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37304384-692f-46f7-8e4e-d8aaba14f020	fbce4ebf-8285-4ce2-884e-5993aec48ae5	g.chrX:49355892_49355893delAC	ENST00000362097.1	+	3	257_258	c.174_175delAC	c.(172-177)ggacagfs	p.Q59fs		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	59								p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					CTCAGGAGGGACAGGATGAGGG	0.559																																						ENST00000362097.1																			8	Substitution - Missense(8)	p.Q59E(8)	endometrium(8)	endometrium(4)	4						c.(172-177)ggagfs		G antigen 2A																																				SO:0001589	frameshift_variant	729447							g.chrX:49355892_49355893delAC	U19143	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064			4099	protein-coding gene	gene with protein product	"""cancer/testis antigen family 4, member 2"""	300720	"""G antigen 2"""	GAGE2		7544395	Standard	NM_001127212		Approved	CT4.2		Q6NT46	OTTHUMG00000024143	ENST00000362097.1:c.174_175delAC	X.37:g.49355892_49355893delAC	ENSP00000355421:p.Gln59fs		Somatic					p.GQ58fs	NM_001127212.1	NP_001120684.1	WXS	Illumina GAIIx	Phase_I					3	257_258	+	Ovarian(276;0.236)								Frame_Shift_Del	DEL	ENST00000362097.1	37	c.174_175delAC	CCDS48114.1																																																																																				0.559	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3			4	6						4	6	---	---	---	---
