#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
RRN3P1	730092	broad.mit.edu	37	16	21817523	21817523	+	RNA	SNP	T	T	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr16:21817523T>C	ENST00000546471.1	-	0	1535							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		TATACACTAATCCTTAGTAAG	0.284																																						ENST00000546471.1																			0																																																			730092							g.chr16:21817523T>C			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817523T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	1535	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.284	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		6	32	0	0	0	0.217242	0	6	32				
CFAP61	26074	broad.mit.edu	37	20	20180478	20180478	+	Missense_Mutation	SNP	C	C	G	rs147638085		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr20:20180478C>G	ENST00000245957.5	+	17	1940	c.1864C>G	c.(1864-1866)Cga>Gga	p.R622G	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		622										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GCGACCACGACGACAGATTGT	0.557																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(1864-1866)Cga>Gga		chromosome 20 open reading frame 26							152.0	135.0	140.0					20																	20180478		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20180478C>G																												ENST00000245957.5:c.1864C>G	20.37:g.20180478C>G	ENSP00000245957:p.Arg622Gly		Somatic				C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	p.R622G	NM_015585.3	NP_056400.3	WXS	Illumina GAIIx	Phase_I	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	17	1940	+			622					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1864C>G	CCDS33447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.06|18.06	3.538808|3.538808	0.65085|0.65085	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000431753|ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	.|T	.|0.56941	.|0.43	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.72087|0.72087	0.3417|0.3417	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.997	.|D;D	.|0.85130	.|0.997;0.965	T|T	0.73544|0.73544	-0.3949|-0.3949	5|10	.|0.72032	.|D	.|0.01	.|.	19.5625|19.5625	0.95378|0.95378	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|602;622	.|F8W6K4;Q8NHU2	.|.;CT026_HUMAN	E|G	161|562;190;602;622	.|ENSP00000245957:R622G	.|ENSP00000245957:R622G	D|R	+|+	3|1	2|2	C20orf26|C20orf26	20128478|20128478	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.225000|4.225000	0.58600|0.58600	2.620000|2.620000	0.88729|0.88729	0.563000|0.563000	0.77884|0.77884	GAC|CGA		0.557	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			4	236	0	0	0	0.150653	0	4	236				
GPR124	25960	broad.mit.edu	37	8	37699044	37699044	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr8:37699044T>A	ENST00000412232.2	+	19	3201	c.3188T>A	c.(3187-3189)cTc>cAc	p.L1063H	GPR124_ENST00000315215.7_Missense_Mutation_p.L846H	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	1063					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCCCTGGGCCTCTTCGTCTTC	0.731																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2536-2538)cTc>cAc		G protein-coupled receptor 124							20.0	24.0	23.0					8																	37699044		2202	4297	6499	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37699044T>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.3188T>A	8.37:g.37699044T>A	ENSP00000406367:p.Leu1063His		Somatic				GPR124_ENST00000412232.2_Missense_Mutation_p.L1063H	p.L846H			WXS	Illumina GAIIx	Phase_I	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		16	2900	+			1063					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.2537T>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	T	13.99	2.401698	0.42613	.	.	ENSG00000020181	ENST00000315215;ENST00000412232	T;T	0.59364	0.27;0.27	5.01	5.01	0.66863	GPCR, family 2, secretin-like, conserved site (1);	0.145337	0.47455	D	0.000236	T	0.73442	0.3587	M	0.68317	2.08	0.46185	D	0.998918	D;D	0.89917	1.0;1.0	D;D	0.73380	0.964;0.98	T	0.77133	-0.2700	10	0.87932	D	0	-27.1135	14.7311	0.69383	0.0:0.0:0.0:1.0	.	846;1063	Q96PE1-2;Q96PE1	.;GP124_HUMAN	H	846;1063	ENSP00000323508:L846H;ENSP00000406367:L1063H	ENSP00000323508:L846H	L	+	2	0	GPR124	37818202	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	2.652000	0.46682	1.882000	0.54519	0.528000	0.53228	CTC		0.731	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			10	24	0	0	0	0.335167	0	10	24				
WDR47	22911	broad.mit.edu	37	1	109554274	109554274	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:109554274C>G	ENST00000369962.3	-	5	616	c.394G>C	c.(394-396)Gat>Cat	p.D132H	WDR47_ENST00000361054.3_Missense_Mutation_p.D104H|WDR47_ENST00000357672.3_Missense_Mutation_p.D104H|WDR47_ENST00000400794.3_Missense_Mutation_p.D139H|WDR47_ENST00000369965.4_Missense_Mutation_p.D132H			O94967	WDR47_HUMAN	WD repeat domain 47	132					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTATAGTCATCTTTAGAAGGA	0.393																																						ENST00000357672.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(310-312)Gat>Cat		WD repeat domain 47							124.0	124.0	124.0					1																	109554274		2203	4296	6499	SO:0001583	missense	22911							g.chr1:109554274C>G	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.394G>C	1.37:g.109554274C>G	ENSP00000358979:p.Asp132His		Somatic				WDR47_ENST00000369962.3_Missense_Mutation_p.D132H|WDR47_ENST00000369965.4_Missense_Mutation_p.D132H|WDR47_ENST00000400794.3_Missense_Mutation_p.D139H|WDR47_ENST00000361054.3_Missense_Mutation_p.D104H	p.D104H			WXS	Illumina GAIIx	Phase_I	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	4	685	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	132					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.310G>C	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175384	0.78564	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672;ENST00000530772;ENST00000529074;ENST00000531337	T;T;T;T;T	0.57907	0.4;0.45;0.37;0.41;0.37	5.6	5.6	0.85130	.	0.162339	0.53938	D	0.000050	T	0.54647	0.1871	L	0.46157	1.445	0.80722	D	1	P;P;D;P	0.53151	0.938;0.771;0.958;0.693	P;P;P;P	0.54100	0.742;0.498;0.65;0.606	T	0.58346	-0.7652	10	0.87932	D	0	-16.722	19.6115	0.95608	0.0:1.0:0.0:0.0	.	104;139;132;132	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	H	139;132;104;132;104;132;59;32	ENSP00000383599:D139H;ENSP00000358979:D132H;ENSP00000354339:D104H;ENSP00000358982:D132H;ENSP00000350301:D104H	ENSP00000350301:D104H	D	-	1	0	WDR47	109355797	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.463000	0.80869	2.631000	0.89168	0.563000	0.77884	GAT		0.393	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		8	233	0	0	0	0.307466	0	8	233				
SAMD9	54809	broad.mit.edu	37	7	92732890	92732890	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr7:92732890G>T	ENST00000379958.2	-	3	2790	c.2521C>A	c.(2521-2523)Cct>Act	p.P841T		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	841						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTTTTCAGGATTTTGTGAT	0.358																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2521-2523)Cct>Act		sterile alpha motif domain containing 9							62.0	62.0	62.0					7																	92732890		2202	4298	6500	SO:0001583	missense	54809					cytoplasm		g.chr7:92732890G>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2521C>A	7.37:g.92732890G>T	ENSP00000369292:p.Pro841Thr		Somatic					p.P841T	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	WXS	Illumina GAIIx	Phase_I	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	2790	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		841					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.2521C>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666288	0.47677	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.80909	-1.43;-1.43	4.59	4.59	0.56863	.	0.265738	0.30809	N	0.008833	D	0.86657	0.5985	M	0.66506	2.035	0.33757	D	0.621352	D	0.64830	0.994	P	0.59115	0.852	D	0.91494	0.5214	10	0.87932	D	0	-5.4179	16.0928	0.81102	0.0:0.0:1.0:0.0	.	841	Q5K651	SAMD9_HUMAN	T	841	ENSP00000369292:P841T;ENSP00000414529:P841T	ENSP00000369292:P841T	P	-	1	0	SAMD9	92570826	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	6.146000	0.71777	2.384000	0.81235	0.609000	0.83330	CCT		0.358	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		24	144	1	0	9.86323e-18	0.667858	1.17472e-17	24	144				
TRIM51HP	440041	broad.mit.edu	37	11	55063124	55063124	+	RNA	SNP	G	G	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr11:55063124G>C	ENST00000526016.1	-	0	513					NR_038174.2				tripartite motif-containing 51H, pseudogene																		GGCATCTTCTGATATTCAGCT	0.378																																						ENST00000526016.1																			0																																																			440041							g.chr11:55063124G>C			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55063124G>C			Somatic						NR_038174.2		WXS	Illumina GAIIx	Phase_I					0	513	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.378	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			8	44	0	0	0	0.307466	0	8	44				
FAT4	79633	broad.mit.edu	37	4	126242308	126242308	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr4:126242308G>T	ENST00000394329.3	+	1	4755	c.4742G>T	c.(4741-4743)aGt>aTt	p.S1581I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1581	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATCGTTATAGTGGAGACCTG	0.458																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(4741-4743)aGt>aTt		FAT atypical cadherin 4							142.0	144.0	143.0					4																	126242308		2046	4208	6254	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242308G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4742G>T	4.37:g.126242308G>T	ENSP00000377862:p.Ser1581Ile		Somatic					p.S1581I	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			1	4755	+			1581			Cadherin 15.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4742G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	16.20	3.057219	0.55325	.	.	ENSG00000196159	ENST00000394329	T	0.54675	0.56	4.35	4.35	0.52113	Cadherin (4);Cadherin-like (1);	0.000000	0.40302	U	0.001133	T	0.79191	0.4404	M	0.92412	3.305	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.85355	0.1104	10	0.87932	D	0	.	17.4402	0.87562	0.0:0.0:1.0:0.0	.	1581	Q6V0I7	FAT4_HUMAN	I	1581	ENSP00000377862:S1581I	ENSP00000377862:S1581I	S	+	2	0	FAT4	126461758	1.000000	0.71417	0.697000	0.30258	0.621000	0.37620	7.510000	0.81708	2.420000	0.82092	0.655000	0.94253	AGT		0.458	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		40	173	1	0	3.54561e-26	0.847076	4.31993e-26	40	173				
CCDC151	115948	broad.mit.edu	37	19	11537537	11537537	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr19:11537537G>C	ENST00000356392.4	-	5	767	c.680C>G	c.(679-681)aCc>aGc	p.T227S	CCDC151_ENST00000545100.1_Missense_Mutation_p.T173S|CCDC151_ENST00000591179.1_Intron|CCDC151_ENST00000586836.1_Missense_Mutation_p.T36S	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	227										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GTACACGCTGGTAATGTGCTC	0.622																																						ENST00000356392.4																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						c.(679-681)aCc>aGc		coiled-coil domain containing 151							66.0	69.0	68.0					19																	11537537		2091	4229	6320	SO:0001583	missense	115948							g.chr19:11537537G>C		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.680C>G	19.37:g.11537537G>C	ENSP00000348757:p.Thr227Ser		Somatic				CCDC151_ENST00000591179.1_Intron|CCDC151_ENST00000545100.1_Missense_Mutation_p.T173S|CCDC151_ENST00000586836.1_Missense_Mutation_p.T36S	p.T227S	NM_145045.4	NP_659482.3	WXS	Illumina GAIIx	Phase_I	A5D8V7	CC151_HUMAN			5	767	-			227					B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	37	c.680C>G	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709906	0.30322	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.83163	-1.69;-1.69	4.95	4.95	0.65309	.	0.249082	0.39274	N	0.001411	T	0.79137	0.4395	L	0.59436	1.845	0.23645	N	0.997219	P;P	0.45957	0.869;0.869	P;P	0.45276	0.475;0.475	T	0.68697	-0.5340	10	0.13108	T	0.6	-26.5309	9.3325	0.38030	0.0989:0.0:0.9011:0.0	.	227;207	A5D8V7;B4DG09	CC151_HUMAN;.	S	173;227;206	ENSP00000442987:T173S;ENSP00000348757:T227S	ENSP00000348757:T227S	T	-	2	0	CCDC151	11398537	0.994000	0.37717	0.638000	0.29380	0.590000	0.36582	2.288000	0.43514	2.291000	0.77112	0.561000	0.74099	ACC		0.622	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		10	35	0	0	0	0.335167	0	10	35				
CECR1	51816	broad.mit.edu	37	22	17662885	17662885	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr22:17662885T>A	ENST00000399839.1	-	9	1537	c.1267A>T	c.(1267-1269)Aac>Tac	p.N423Y	CECR1_ENST00000262607.3_Missense_Mutation_p.N423Y|CECR1_ENST00000449907.2_Missense_Mutation_p.N381Y|CECR1_ENST00000330232.4_Missense_Mutation_p.N182Y|CECR1_ENST00000399837.2_Missense_Mutation_p.N423Y	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	423					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ACAGGGTGGTTCCTCAAGTCA	0.507																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(1267-1269)Aac>Tac		cat eye syndrome chromosome region, candidate 1							77.0	68.0	71.0					22																	17662885		2203	4300	6503	SO:0001583	missense	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17662885T>A	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1267A>T	22.37:g.17662885T>A	ENSP00000382733:p.Asn423Tyr		Somatic				CECR1_ENST00000262607.3_Missense_Mutation_p.N423Y|CECR1_ENST00000330232.4_Missense_Mutation_p.N182Y|CECR1_ENST00000399837.2_Missense_Mutation_p.N423Y|CECR1_ENST00000449907.2_Missense_Mutation_p.N381Y	p.N423Y			WXS	Illumina GAIIx	Phase_I	Q9NZK5	CECR1_HUMAN			9	1537	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	423					A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	c.1267A>T	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543349	0.65198	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76	3.92	3.92	0.45320	Adenosine/AMP deaminase (1);	0.141586	0.64402	D	0.000009	D	0.98002	0.9342	M	0.92833	3.35	0.47949	D	0.999554	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.98730	1.0712	10	0.87932	D	0	.	12.8002	0.57582	0.0:0.0:0.0:1.0	.	423;182	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	Y	423;182;423;381;423	ENSP00000382733:N423Y;ENSP00000332871:N182Y;ENSP00000262607:N423Y;ENSP00000406443:N381Y;ENSP00000382731:N423Y	ENSP00000262607:N423Y	N	-	1	0	CECR1	16042885	1.000000	0.71417	0.991000	0.47740	0.637000	0.38172	6.692000	0.74578	1.407000	0.46875	0.454000	0.30748	AAC		0.507	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			11	68	0	0	0	0.361761	0	11	68				
LOC101927755	101927755	broad.mit.edu	37	17	58066651	58066651	+	lincRNA	SNP	C	C	T	rs376360537		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr17:58066651C>T	ENST00000586209.1	+	0	158																											ACTGGTAAAGCTGTTTAAGAG	0.333																																						ENST00000586209.1																			0																																																			101927755							g.chr17:58066651C>T																													17.37:g.58066651C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	158	+									RNA	SNP	ENST00000586209.1	37																																																																																						0.333	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			4	23	0	0	0	0.150653	0	4	23				
TXNIP	10628	broad.mit.edu	37	1	145440991	145440991	+	Missense_Mutation	SNP	G	G	C	rs150987946		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:145440991G>C	ENST00000369317.4	+	7	1412	c.1078G>C	c.(1078-1080)Gac>Cac	p.D360H	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	360					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGCTCTCAAGACAGCCCTAT	0.453																																						ENST00000369317.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(1078-1080)Gac>Cac		thioredoxin interacting protein							197.0	180.0	185.0					1																	145440991		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440991G>C	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.1078G>C	1.37:g.145440991G>C	ENSP00000358323:p.Asp360His		Somatic				TXNIP_ENST00000475171.1_Intron	p.D360H	NM_006472.3	NP_006463.3	WXS	Illumina GAIIx	Phase_I	Q9H3M7	TXNIP_HUMAN			7	1412	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		360					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.1078G>C	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201757	0.79015	.	.	ENSG00000117289	ENST00000369317	T	0.08634	3.07	5.18	5.18	0.71444	.	0.156720	0.53938	D	0.000042	T	0.09113	0.0225	L	0.55481	1.735	0.80722	D	1	B;D	0.69078	0.103;0.997	B;P	0.53912	0.051;0.737	T	0.31336	-0.9947	10	0.13470	T	0.59	-22.6263	16.2393	0.82399	0.0:0.0:1.0:0.0	.	305;360	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	H	360	ENSP00000358323:D360H	ENSP00000358323:D360H	D	+	1	0	TXNIP	144152348	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	6.857000	0.75455	2.711000	0.92665	0.655000	0.94253	GAC		0.453	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		4	255	0	0	0	0.150653	0	4	255				
TENM1	10178	broad.mit.edu	37	X	124030083	124030083	+	Silent	SNP	T	T	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chrX:124030083T>C	ENST00000371130.3	-	2	288	c.225A>G	c.(223-225)gaA>gaG	p.E75E	TENM1_ENST00000422452.2_Silent_p.E75E	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	75	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTTCACAGAATTCCATCTCTG	0.448																																						ENST00000422452.2																			0											c.(223-225)gaA>gaG		teneurin transmembrane protein 1							95.0	87.0	90.0					X																	124030083		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:124030083T>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.225A>G	X.37:g.124030083T>C			Somatic				TENM1_ENST00000371130.3_Silent_p.E75E	p.E75E	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina GAIIx	Phase_I					2	288	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.225A>G	CCDS14609.1																																																																																				0.448	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		52	89	0	0	0	0.870114	0	52	89				
PTPRF	5792	broad.mit.edu	37	1	44035299	44035299	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:44035299G>T	ENST00000359947.4	+	6	758	c.418G>T	c.(418-420)Ggg>Tgg	p.G140W	PTPRF_ENST00000438120.1_Missense_Mutation_p.G140W|PTPRF_ENST00000372413.3_Missense_Mutation_p.G140W|PTPRF_ENST00000372414.3_Missense_Mutation_p.G140W	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	140	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATCGACATGGGGCCTCAGCT	0.577																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(418-420)Ggg>Tgg		protein tyrosine phosphatase, receptor type, F							94.0	95.0	95.0					1																	44035299		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44035299G>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.418G>T	1.37:g.44035299G>T	ENSP00000353030:p.Gly140Trp		Somatic				PTPRF_ENST00000372413.3_Missense_Mutation_p.G140W|PTPRF_ENST00000372414.3_Missense_Mutation_p.G140W|PTPRF_ENST00000438120.1_Missense_Mutation_p.G140W	p.G140W	NM_002840.3	NP_002831.2	WXS	Illumina GAIIx	Phase_I	P10586	PTPRF_HUMAN			6	758	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	140			Ig-like C2-type 2.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.418G>T	CCDS489.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878331	0.91740	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000437607	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.0	5.0	0.66597	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34725	N	0.003739	T	0.76948	0.4059	L	0.39692	1.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;1.0;1.0;0.927	T	0.79465	-0.1792	10	0.87932	D	0	.	18.6891	0.91576	0.0:0.0:1.0:0.0	.	140;140;140;140	Q5T020;P10586-2;P10586;Q5T019	.;.;PTPRF_HUMAN;.	W	140	ENSP00000353030:G140W;ENSP00000398822:G140W;ENSP00000361491:G140W;ENSP00000361490:G140W;ENSP00000413306:G140W	ENSP00000353030:G140W	G	+	1	0	PTPRF	43807886	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.503000	0.84419	0.561000	0.74099	GGG		0.577	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			4	116	1	0	0.00909568	0.150653	0.0092706	4	116				
OCA2	4948	broad.mit.edu	37	15	28230225	28230225	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr15:28230225G>T	ENST00000354638.3	-	13	1504	c.1349C>A	c.(1348-1350)aCg>aAg	p.T450K	OCA2_ENST00000353809.5_Missense_Mutation_p.T426K|OCA2_ENST00000382996.2_Missense_Mutation_p.T450K	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	450					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGTCACAGGCGTGAAGAGGAG	0.622									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85	GRCh37	CM085601	OCA2	M		c.(1348-1350)aCg>aAg		oculocutaneous albinism II							143.0	100.0	115.0					15																	28230225		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28230225G>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1349C>A	15.37:g.28230225G>T	ENSP00000346659:p.Thr450Lys		Somatic				OCA2_ENST00000382996.2_Missense_Mutation_p.T450K|OCA2_ENST00000353809.5_Missense_Mutation_p.T426K	p.T450K	NM_000275.2	NP_000266.2	WXS	Illumina GAIIx	Phase_I	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	13	1504	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	450					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1349C>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887734	0.91814	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.92647	-3.08;-3.08;-3.08	5.2	5.2	0.72013	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	M	0.84846	2.72	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	D	0.96961	0.9701	10	0.87932	D	0	-25.2909	18.0938	0.89482	0.0:0.0:1.0:0.0	.	426;450	Q04671-2;Q04671	.;P_HUMAN	K	450;426;450	ENSP00000346659:T450K;ENSP00000261276:T426K;ENSP00000372457:T450K	ENSP00000261276:T426K	T	-	2	0	OCA2	25903820	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.948000	0.93006	2.576000	0.86940	0.655000	0.94253	ACG		0.622	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		9	52	1	0	6.40141e-05	0.387290	6.85404e-05	9	52				
R3HDML	140902	broad.mit.edu	37	20	42979419	42979419	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr20:42979419T>G	ENST00000217043.2	+	5	921	c.749T>G	c.(748-750)tTc>tGc	p.F250C	RP5-881L22.5_ENST00000438702.1_RNA|RP5-881L22.5_ENST00000430481.2_RNA	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	250						extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			TCCAACAAGTTCACGTGGTTC	0.522																																						ENST00000217043.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21						c.(748-750)tTc>tGc		R3H domain containing-like							162.0	142.0	149.0					20																	42979419		2203	4300	6503	SO:0001583	missense	140902					extracellular region	peptidase inhibitor activity	g.chr20:42979419T>G	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing-like"""				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.749T>G	20.37:g.42979419T>G	ENSP00000217043:p.Phe250Cys		Somatic				RP5-881L22.5_ENST00000430481.1_RNA|RP5-881L22.5_ENST00000438702.1_RNA	p.F250C	NM_178491.2	NP_848586.1	WXS	Illumina GAIIx	Phase_I	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		5	921	+		Myeloproliferative disorder(115;0.028)	250						Missense_Mutation	SNP	ENST00000217043.2	37	c.749T>G	CCDS13329.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.175009	0.38413	.	.	ENSG00000101074	ENST00000217043	T	0.06768	3.26	4.64	4.64	0.57946	.	0.486384	0.19009	N	0.125123	T	0.06188	0.0160	N	0.14661	0.345	0.22947	N	0.998527	B	0.32425	0.371	B	0.30179	0.112	T	0.31081	-0.9956	10	0.59425	D	0.04	.	13.738	0.62829	0.0:0.0:0.0:1.0	.	250	Q9H3Y0	CRSPL_HUMAN	C	250	ENSP00000217043:F250C	ENSP00000217043:F250C	F	+	2	0	R3HDML	42412833	0.814000	0.29104	0.193000	0.23327	0.007000	0.05969	4.067000	0.57527	1.731000	0.51592	0.459000	0.35465	TTC		0.522	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		18	111	0	0	0	0.557998	0	18	111				
SLC10A5	347051	broad.mit.edu	37	8	82606469	82606469	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr8:82606469G>C	ENST00000518568.1	-	1	1940	c.739C>G	c.(739-741)Ctg>Gtg	p.L247V		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	247						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)	p.L247L(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						ATCATGATCAGAGCCAATAAT	0.418																																						ENST00000518568.1																			1	Substitution - coding silent(1)	p.L247L(1)	large_intestine(1)	autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(739-741)Ctg>Gtg		solute carrier family 10, member 5							82.0	84.0	83.0					8																	82606469		2203	4300	6503	SO:0001583	missense	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606469G>C		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.739C>G	8.37:g.82606469G>C	ENSP00000428612:p.Leu247Val		Somatic					p.L247V	NM_001010893.2	NP_001010893.1	WXS	Illumina GAIIx	Phase_I	Q5PT55	NTCP5_HUMAN			1	1940	-			247					B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	c.739C>G	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	G	1.914	-0.449898	0.04572	.	.	ENSG00000253598	ENST00000518568	T	0.11604	2.76	6.01	3.24	0.37175	.	0.000000	0.42964	D	0.000639	T	0.14356	0.0347	L	0.53249	1.67	0.30889	N	0.730502	P	0.42296	0.775	P	0.50825	0.651	T	0.03068	-1.1076	10	0.06365	T	0.9	-9.1318	8.7694	0.34722	0.1889:0.1133:0.6978:0.0	.	247	Q5PT55	NTCP5_HUMAN	V	247	ENSP00000428612:L247V	ENSP00000428612:L247V	L	-	1	2	SLC10A5	82769024	0.719000	0.27986	0.982000	0.44146	0.002000	0.02628	0.825000	0.27393	0.453000	0.26858	-1.975000	0.00460	CTG		0.418	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		35	153	0	0	0	0.819951	0	35	153				
UNC79	57578	broad.mit.edu	37	14	94004418	94004418	+	Silent	SNP	G	G	T	rs572376037		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr14:94004418G>T	ENST00000393151.2	+	12	1206	c.1206G>T	c.(1204-1206)cgG>cgT	p.R402R	UNC79_ENST00000555664.1_Silent_p.R402R|UNC79_ENST00000553484.1_Silent_p.R402R|UNC79_ENST00000256339.4_Silent_p.R225R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	402					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGCCTGTTCGGTACTGCAAGA	0.552																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1204-1206)cgG>cgT		unc-79 homolog (C. elegans)							78.0	73.0	75.0					14																	94004418		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94004418G>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1206G>T	14.37:g.94004418G>T			Somatic				UNC79_ENST00000256339.4_Silent_p.R225R|UNC79_ENST00000393151.2_Silent_p.R402R|UNC79_ENST00000555664.1_Silent_p.R402R	p.R402R			WXS	Illumina GAIIx	Phase_I	Q9P2D8	UNC79_HUMAN			12	1360	+			402					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.1206G>T																																																																																					0.552	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		14	50	1	0	6.31663e-08	0.479597	6.90271e-08	14	50				
ITGA7	3679	broad.mit.edu	37	12	56078890	56078890	+	Silent	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr12:56078890C>T	ENST00000555728.1	-	26	3526	c.3498G>A	c.(3496-3498)ggG>ggA	p.G1166G	ITGA7_ENST00000452168.2_Silent_p.G1029G|ITGA7_ENST00000553804.1_Silent_p.G1126G|ITGA7_ENST00000257879.6_Silent_p.G1122G|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000347027.6_Silent_p.G1116G|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000257880.7_3'UTR			Q13683	ITA7_HUMAN	integrin, alpha 7	1166	3 X 4 AA repeats of D-X-H-P.				blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCTCGGGATGCCCGTCAGCAG	0.682																																						ENST00000257879.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3364-3366)ggG>ggA		integrin, alpha 7							31.0	32.0	32.0					12																	56078890		2201	4299	6500	SO:0001819	synonymous_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56078890C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3498G>A	12.37:g.56078890C>T			Somatic				ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000452168.2_Silent_p.G1029G|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000347027.6_Silent_p.G1116G|ITGA7_ENST00000553804.1_Silent_p.G1126G|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000555728.1_Silent_p.G1166G	p.G1122G	NM_002206.2	NP_002197.2	WXS	Illumina GAIIx	Phase_I	Q13683	ITA7_HUMAN			25	3581	-			1166					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.3366G>A		.	.	.	.	.	.	.	.	.	.	C	9.007	0.981635	0.18812	.	.	ENSG00000135424	ENST00000557555	.	.	.	4.76	2.87	0.33458	.	0.153886	0.21607	U	0.071858	T	0.55417	0.1919	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49925	-0.8887	5	.	.	.	.	6.9289	0.24429	0.0:0.7258:0.1748:0.0993	.	.	.	.	D	190	.	.	G	-	2	0	ITGA7	54365157	0.986000	0.35501	0.995000	0.50966	0.195000	0.23768	1.961000	0.40432	0.965000	0.38133	0.555000	0.69702	GGC		0.682	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		3	29	0	0	0	0.115264	0	3	29				
BCL9L	283149	broad.mit.edu	37	11	118769210	118769210	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr11:118769210G>A	ENST00000334801.3	-	8	5378	c.4414C>T	c.(4414-4416)Cac>Tac	p.H1472Y	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1472					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CGAAGGGGGTGGGACACCATG	0.706																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(4414-4416)Cac>Tac		B-cell CLL/lymphoma 9-like							21.0	24.0	23.0					11																	118769210		2199	4294	6493	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118769210G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.4414C>T	11.37:g.118769210G>A	ENSP00000335320:p.His1472Tyr		Somatic				BCL9L_ENST00000526143.1_5'UTR	p.H1472Y	NM_182557.2	NP_872363.1	WXS	Illumina GAIIx	Phase_I	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	8	5378	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1472					A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.4414C>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151863	0.78001	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000431085	T	0.65364	-0.15	3.98	3.98	0.46160	.	0.000000	0.41500	U	0.000874	T	0.68035	0.2957	L	0.47716	1.5	0.58432	D	0.999999	D;D	0.56968	0.978;0.963	P;P	0.55713	0.782;0.546	T	0.70741	-0.4789	10	0.46703	T	0.11	-18.323	16.4076	0.83691	0.0:0.0:1.0:0.0	.	1467;1472	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	Y	1472;1435;718;1427	ENSP00000335320:H1472Y	ENSP00000335320:H1472Y	H	-	1	0	BCL9L	118274420	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.158000	0.94723	1.909000	0.55274	0.305000	0.20034	CAC		0.706	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		7	43	0	0	0	0.248553	0	7	43				
MICU2	221154	broad.mit.edu	37	13	22067422	22067422	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr13:22067422T>A	ENST00000382374.4	-	12	1336	c.1271A>T	c.(1270-1272)gAa>gTa	p.E424V	MICU2_ENST00000479790.1_5'UTR	NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	424					mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										TTTCCAGACTTCTTTTACTCC	0.313																																						ENST00000382374.4																			0											c.(1270-1272)gAa>gTa		mitochondrial calcium uptake 2							180.0	171.0	174.0					13																	22067422		2202	4299	6501	SO:0001583	missense	221154							g.chr13:22067422T>A	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.1271A>T	13.37:g.22067422T>A	ENSP00000371811:p.Glu424Val		Somatic				MICU2_ENST00000479790.1_5'UTR	p.E424V	NM_152726.2	NP_689939.1	WXS	Illumina GAIIx	Phase_I					12	1336	-								Q8N0T6|Q8NAX8	Missense_Mutation	SNP	ENST00000382374.4	37	c.1271A>T	CCDS9297.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.282707	0.59867	.	.	ENSG00000165487	ENST00000382374	T	0.52983	0.64	5.92	4.74	0.60224	.	0.085006	0.85682	D	0.000000	T	0.48429	0.1499	L	0.34521	1.04	0.80722	D	1	D	0.56746	0.977	P	0.53450	0.726	T	0.46062	-0.9218	10	0.51188	T	0.08	-6.2397	11.9507	0.52954	0.0:0.0676:0.0:0.9324	.	424	Q8IYU8	EFHA1_HUMAN	V	424	ENSP00000371811:E424V	ENSP00000371811:E424V	E	-	2	0	EFHA1	20965422	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	7.328000	0.79160	1.067000	0.40740	-0.256000	0.11100	GAA		0.313	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726		14	116	0	0	0	0.479597	0	14	116				
PROX1	5629	broad.mit.edu	37	1	214170392	214170392	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:214170392A>T	ENST00000366958.4	+	2	1122	c.514A>T	c.(514-516)Ata>Tta	p.I172L	PROX1_ENST00000498508.2_Missense_Mutation_p.I172L|PROX1_ENST00000435016.1_Missense_Mutation_p.I172L|PROX1_ENST00000261454.4_Missense_Mutation_p.I172L	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	172					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GGTTGAGAATATAATTCGGGG	0.507																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(514-516)Ata>Tta		prospero homeobox 1							54.0	60.0	58.0					1																	214170392		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170392A>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.514A>T	1.37:g.214170392A>T	ENSP00000355925:p.Ile172Leu		Somatic				PROX1_ENST00000435016.1_Missense_Mutation_p.I172L|PROX1_ENST00000261454.4_Missense_Mutation_p.I172L|PROX1_ENST00000498508.2_Missense_Mutation_p.I172L	p.I172L	NM_001270616.1	NP_001257545.1	WXS	Illumina GAIIx	Phase_I	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1122	+			172					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.514A>T	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	A	19.41	3.822398	0.71028	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	M	0.74647	2.275	0.80722	D	1	D	0.57899	0.981	D	0.70716	0.97	T	0.55270	-0.8167	10	0.72032	D	0.01	-3.9116	16.0334	0.80603	1.0:0.0:0.0:0.0	.	172	Q92786	PROX1_HUMAN	L	172	ENSP00000419517:I172L;ENSP00000420283:I172L;ENSP00000355925:I172L;ENSP00000400694:I172L;ENSP00000261454:I172L	ENSP00000261454:I172L	I	+	1	0	PROX1	212237015	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.287000	0.95975	2.243000	0.73865	0.533000	0.62120	ATA		0.507	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		10	92	0	0	0	0.335167	0	10	92				
EP400	57634	broad.mit.edu	37	12	132554124	132554124	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr12:132554124A>G	ENST00000333577.4	+	52	9176	c.9067A>G	c.(9067-9069)Acc>Gcc	p.T3023A	EP400_ENST00000389561.2_Missense_Mutation_p.T2987A|EP400_ENST00000332482.4_Missense_Mutation_p.T2950A|EP400_ENST00000330386.6_Missense_Mutation_p.T2906A|EP400_ENST00000389562.2_Missense_Mutation_p.T2986A			Q96L91	EP400_HUMAN	E1A binding protein p400	3023					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCAGTTTCTTACCACACCCAT	0.652																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(9067-9069)Acc>Gcc		E1A binding protein p400							63.0	66.0	65.0					12																	132554124		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132554124A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.9067A>G	12.37:g.132554124A>G	ENSP00000333602:p.Thr3023Ala		Somatic				EP400_ENST00000332482.4_Missense_Mutation_p.T2950A|EP400_ENST00000389562.2_Missense_Mutation_p.T2986A|EP400_ENST00000389561.2_Missense_Mutation_p.T2987A|EP400_ENST00000330386.6_Missense_Mutation_p.T2906A	p.T3023A			WXS	Illumina GAIIx	Phase_I	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	52	9176	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	3023					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.9067A>G		.	.	.	.	.	.	.	.	.	.	A	15.54	2.862722	0.51482	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90133	-2.58;-2.59;-2.61;-2.61;-2.62	5.3	5.3	0.74995	.	0.155285	0.56097	D	0.000030	D	0.89691	0.6788	N	0.14661	0.345	0.32663	N	0.517848	D;D;D;D	0.58268	0.982;0.972;0.972;0.972	D;P;P;P	0.67548	0.952;0.574;0.574;0.574	D	0.91533	0.5244	10	0.59425	D	0.04	.	11.8582	0.52451	0.854:0.146:0.0:0.0	.	3023;2987;2906;2986	Q96L91;Q96L91-2;Q96L91-4;Q96L91-5	EP400_HUMAN;.;.;.	A	3023;2987;2986;2950;2906;2987	ENSP00000333602:T3023A;ENSP00000374212:T2987A;ENSP00000374213:T2986A;ENSP00000331737:T2950A;ENSP00000330620:T2906A	ENSP00000330620:T2906A	T	+	1	0	EP400	131120077	0.935000	0.31712	0.997000	0.53966	0.910000	0.53928	2.155000	0.42301	2.003000	0.58678	0.402000	0.26972	ACC		0.652	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		21	126	0	0	0	0.575678	0	21	126				
MARCH11	441061	broad.mit.edu	37	5	16067810	16067810	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr5:16067810C>T	ENST00000332432.8	-	4	1178	c.979G>A	c.(979-981)Gcc>Acc	p.A327T		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	327					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						ATGTCTGTGGCTTTGTCATAA	0.468																																						ENST00000332432.8																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						c.(979-981)Gcc>Acc		membrane-associated ring finger (C3HC4) 11							75.0	74.0	74.0					5																	16067810		1922	4135	6057	SO:0001583	missense	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16067810C>T	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.979G>A	5.37:g.16067810C>T	ENSP00000333181:p.Ala327Thr		Somatic					p.A327T	NM_001102562.1	NP_001096032.1	WXS	Illumina GAIIx	Phase_I	A6NNE9	MARHB_HUMAN			4	1178	-			327					A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	37	c.979G>A	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238593	0.39598	.	.	ENSG00000183654	ENST00000332432	T	0.62498	0.02	5.44	5.44	0.79542	.	0.182791	0.46442	D	0.000294	T	0.42743	0.1216	N	0.10916	0.065	0.58432	D	0.999996	B	0.24823	0.112	B	0.24974	0.057	T	0.43048	-0.9415	10	0.02654	T	1	-27.7226	19.6252	0.95676	0.0:1.0:0.0:0.0	.	327	A6NNE9	MARHB_HUMAN	T	327	ENSP00000333181:A327T	ENSP00000333181:A327T	A	-	1	0	MARCH11	16120810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.786000	0.47790	2.697000	0.92050	0.655000	0.94253	GCC		0.468	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		10	54	0	0	0	0.335167	0	10	54				
NTRK1	4914	broad.mit.edu	37	1	156836721	156836721	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:156836721C>G	ENST00000524377.1	+	4	420	c.379C>G	c.(379-381)Ctg>Gtg	p.L127V	NTRK1_ENST00000358660.3_Missense_Mutation_p.L127V|NTRK1_ENST00000392302.2_Missense_Mutation_p.L97V|NTRK1_ENST00000368196.3_Missense_Mutation_p.L127V	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	127					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CTTCAACGCTCTGGAGTCTCT	0.592			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(379-381)Ctg>Gtg		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						104.0	93.0	97.0					1																	156836721		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156836721C>G	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.379C>G	1.37:g.156836721C>G	ENSP00000431418:p.Leu127Val	TSP Lung(10;0.080)	Somatic				NTRK1_ENST00000358660.3_Missense_Mutation_p.L127V|NTRK1_ENST00000392302.2_Missense_Mutation_p.L97V|NTRK1_ENST00000524377.1_Missense_Mutation_p.L127V	p.L127V	NM_001012331.1	NP_001012331.1	WXS	Illumina GAIIx	Phase_I	P04629	NTRK1_HUMAN			4	499	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		127					B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.379C>G	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369504	0.42003	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	4.51	1.39	0.22231	.	0.179008	0.26673	N	0.023086	T	0.49423	0.1556	L	0.55990	1.75	0.49389	D	0.999789	B;P;B;B	0.43024	0.297;0.798;0.007;0.067	B;P;B;B	0.46144	0.406;0.505;0.005;0.17	T	0.52830	-0.8523	10	0.87932	D	0	.	6.1145	0.20120	0.0:0.6267:0.0:0.3733	.	127;127;127;97	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	V	97;127;127;127	ENSP00000376120:L97V;ENSP00000357179:L127V;ENSP00000431418:L127V;ENSP00000351486:L127V	ENSP00000351486:L127V	L	+	1	2	NTRK1	155103345	0.630000	0.27155	0.994000	0.49952	0.965000	0.64279	1.002000	0.29796	0.462000	0.27095	0.462000	0.41574	CTG		0.592	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		12	112	0	0	0	0.479597	0	12	112				
PLAC1	10761	broad.mit.edu	37	X	133700599	133700599	+	Silent	SNP	T	T	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chrX:133700599T>A	ENST00000359237.4	-	3	399	c.114A>T	c.(112-114)acA>acT	p.T38T	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					AGGGGTGCACTGTGACCATGA	0.512																																						ENST00000359237.4																			0				large_intestine(4)|lung(1)|pancreas(1)	6						c.(112-114)acA>acT		placenta-specific 1							221.0	197.0	205.0					X																	133700599		2203	4300	6503	SO:0001819	synonymous_variant	10761				placenta development	extracellular region		g.chrX:133700599T>A	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.114A>T	X.37:g.133700599T>A			Somatic				PLAC1_ENST00000476971.1_5'UTR	p.T38T	NM_021796.3	NP_068568.1	WXS	Illumina GAIIx	Phase_I	Q9HBJ0	PLAC1_HUMAN			3	399	-	Acute lymphoblastic leukemia(192;0.000127)		38						Silent	SNP	ENST00000359237.4	37	c.114A>T	CCDS14642.1																																																																																				0.512	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		77	110	0	0	0	0.870114	0	77	110				
HSPA4	3308	broad.mit.edu	37	5	132439651	132439651	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr5:132439651T>C	ENST00000304858.2	+	18	2541	c.2252T>C	c.(2251-2253)cTg>cCg	p.L751P		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	751					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.L751P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGCTAAATCTGCAGAACAAG	0.358																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			1	Substitution - Missense(1)	p.L751P(1)	breast(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(2251-2253)cTg>cCg		heat shock 70kDa protein 4							132.0	129.0	130.0					5																	132439651		2203	4300	6503	SO:0001583	missense	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132439651T>C	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.2252T>C	5.37:g.132439651T>C	ENSP00000302961:p.Leu751Pro		Somatic					p.L751P	NM_002154.3	NP_002145.3	WXS	Illumina GAIIx	Phase_I	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		18	2541	+			751					O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	c.2252T>C	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.933448	0.73442	.	.	ENSG00000170606	ENST00000304858	T	0.01215	5.16	5.87	5.87	0.94306	.	0.060671	0.64402	D	0.000002	T	0.02267	0.0070	L	0.32530	0.975	0.80722	D	1	P	0.48911	0.917	P	0.49226	0.603	T	0.69709	-0.5072	10	0.44086	T	0.13	-9.891	16.2678	0.82600	0.0:0.0:0.0:1.0	.	751	P34932	HSP74_HUMAN	P	751	ENSP00000302961:L751P	ENSP00000302961:L751P	L	+	2	0	HSPA4	132467550	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.644000	0.61397	2.232000	0.73038	0.523000	0.50628	CTG		0.358	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		33	112	0	0	0	0.750413	0	33	112				
SULF1	23213	broad.mit.edu	37	8	70501331	70501331	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr8:70501331C>T	ENST00000260128.4	+	8	1406	c.689C>T	c.(688-690)tCa>tTa	p.S230L	SULF1_ENST00000419716.3_Missense_Mutation_p.S230L|SULF1_ENST00000458141.2_Missense_Mutation_p.S230L|SULF1_ENST00000402687.4_Missense_Mutation_p.S230L	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	230					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CCCGAGGACTCAGCCCCACAG	0.493																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(688-690)tCa>tTa		sulfatase 1							69.0	61.0	64.0					8																	70501331		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70501331C>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.689C>T	8.37:g.70501331C>T	ENSP00000260128:p.Ser230Leu		Somatic				SULF1_ENST00000419716.3_Missense_Mutation_p.S230L|SULF1_ENST00000402687.4_Missense_Mutation_p.S230L|SULF1_ENST00000458141.2_Missense_Mutation_p.S230L	p.S230L	NM_015170.2	NP_055985.2	WXS	Illumina GAIIx	Phase_I	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		8	1406	+	Breast(64;0.0654)		230					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.689C>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165418	0.94768	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99	5.54	5.54	0.83059	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97046	0.9035	L	0.54908	1.71	0.80722	D	1	B	0.20550	0.046	B	0.18561	0.022	D	0.94278	0.7517	10	0.72032	D	0.01	.	19.8424	0.96695	0.0:1.0:0.0:0.0	.	230	Q8IWU6	SULF1_HUMAN	L	230	ENSP00000403040:S230L;ENSP00000260128:S230L;ENSP00000385704:S230L;ENSP00000390315:S230L	ENSP00000260128:S230L	S	+	2	0	SULF1	70663885	1.000000	0.71417	0.966000	0.40874	0.882000	0.50991	7.768000	0.85345	2.764000	0.94973	0.655000	0.94253	TCA		0.493	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		16	58	0	0	0	0.479597	0	16	58				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C			Somatic						NR_003952.1		WXS	Illumina GAIIx	Phase_I					0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			4	42	0	0	0	0.184627	0	4	42				
MYO16	23026	broad.mit.edu	37	13	109792688	109792688	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr13:109792688C>A	ENST00000357550.2	+	31	4103	c.4062C>A	c.(4060-4062)agC>agA	p.S1354R	MYO16_ENST00000356711.2_Missense_Mutation_p.S1354R	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCAAGCGCAGCCCCAACACCA	0.692																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(4060-4062)agC>agA		myosin XVI							43.0	35.0	38.0					13																	109792688		2199	4285	6484	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109792688C>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.4062C>A	13.37:g.109792688C>A	ENSP00000350160:p.Ser1354Arg		Somatic				MYO16_ENST00000357550.2_Missense_Mutation_p.S1354R	p.S1354R	NM_015011.1	NP_055826.1	WXS	Illumina GAIIx	Phase_I	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		32	4188	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1354						Missense_Mutation	SNP	ENST00000357550.2	37	c.4062C>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166575	0.38217	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.57752	0.38;0.38	4.84	2.12	0.27331	.	0.285026	0.24169	U	0.040903	T	0.39682	0.1087	L	0.48362	1.52	0.80722	D	1	B	0.24576	0.106	B	0.20767	0.031	T	0.10086	-1.0645	9	.	.	.	.	7.2519	0.26154	0.0:0.5106:0.0:0.4894	.	1354	Q9Y6X6	MYO16_HUMAN	R	1354	ENSP00000349145:S1354R;ENSP00000350160:S1354R	.	S	+	3	2	MYO16	108590689	0.994000	0.37717	0.988000	0.46212	0.972000	0.66771	0.285000	0.18883	0.105000	0.17753	0.305000	0.20034	AGC		0.692	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		12	46	1	0	9.05144e-12	0.435327	1.05434e-11	12	46				
TRPM6	140803	broad.mit.edu	37	9	77377717	77377717	+	Silent	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr9:77377717C>T	ENST00000360774.1	-	26	4107	c.3870G>A	c.(3868-3870)cgG>cgA	p.R1290R	TRPM6_ENST00000376864.4_Silent_p.R1290R|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.R1285R|TRPM6_ENST00000449912.2_Silent_p.R1285R|TRPM6_ENST00000451710.3_Silent_p.R1290R|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1290					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTGGGGGATGCCGGCCTCCAG	0.488																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(3868-3870)cgG>cgA		transient receptor potential cation channel, subfamily M, member 6							108.0	118.0	114.0					9																	77377717		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377717C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3870G>A	9.37:g.77377717C>T			Somatic				TRPM6_ENST00000449912.2_Silent_p.R1285R|TRPM6_ENST00000376864.4_Silent_p.R1290R|TRPM6_ENST00000361255.3_Silent_p.R1285R|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Silent_p.R1290R	p.R1290R			WXS	Illumina GAIIx	Phase_I	Q9BX84	TRPM6_HUMAN			26	4107	-			1290					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.3870G>A	CCDS6647.1																																																																																				0.488	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		5	282	0	0	0	0.184627	0	5	282				
VPS4B	9525	broad.mit.edu	37	18	61064278	61064278	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr18:61064278G>T	ENST00000238497.5	-	9	1284	c.1081C>A	c.(1081-1083)Cat>Aat	p.H361N	VPS4B_ENST00000591383.1_5'Flank	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	361					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						TTTTTAAAATGAGTAGCTGAC	0.403																																						ENST00000238497.5																			0				breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(1081-1083)Cat>Aat		vacuolar protein sorting 4 homolog B (S. cerevisiae)							89.0	87.0	88.0					18																	61064278		2203	4300	6503	SO:0001583	missense	9525				cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	g.chr18:61064278G>T	AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.1081C>A	18.37:g.61064278G>T	ENSP00000238497:p.His361Asn		Somatic					p.H361N	NM_004869.3	NP_004860.2	WXS	Illumina GAIIx	Phase_I	O75351	VPS4B_HUMAN			9	1284	-			361					Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	c.1081C>A	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594618	0.86953	.	.	ENSG00000119541	ENST00000238497	D	0.93859	-3.3	6.17	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.97303	0.9118	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.992;0.999	D	0.97529	1.0078	10	0.72032	D	0.01	-24.9649	15.9972	0.80260	0.065:0.0:0.935:0.0	.	361;361;361	A8K5D8;A8K4G7;O75351	.;.;VPS4B_HUMAN	N	361	ENSP00000238497:H361N	ENSP00000238497:H361N	H	-	1	0	VPS4B	59215258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	CAT		0.403	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869		27	121	1	0	4.7796e-09	0.681144	5.44772e-09	27	121				
KRT27	342574	broad.mit.edu	37	17	38938401	38938401	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr17:38938401C>A	ENST00000301656.3	-	1	385	c.345G>T	c.(343-345)aaG>aaT	p.K115N		NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				ACCCCTTGATCTTCTGCTCCA	0.498																																						ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(343-345)aaG>aaT		keratin 27							158.0	140.0	146.0					17																	38938401		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38938401C>A	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.345G>T	17.37:g.38938401C>A	ENSP00000301656:p.Lys115Asn		Somatic					p.K115N	NM_181537.3	NP_853515.2	WXS	Illumina GAIIx	Phase_I	Q7Z3Y8	K1C27_HUMAN			1	385	-		Breast(137;0.000812)	115			Coil 1A.|Rod.			Missense_Mutation	SNP	ENST00000301656.3	37	c.345G>T	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682834	0.88542	.	.	ENSG00000171446	ENST00000301656	D	0.90788	-2.73	5.66	5.66	0.87406	Filament (1);	0.000000	0.64402	D	0.000002	D	0.96658	0.8909	H	0.95365	3.66	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	D	0.97244	0.9893	10	0.87932	D	0	.	14.3234	0.66502	0.0:0.9266:0.0:0.0734	.	115	Q7Z3Y8	K1C27_HUMAN	N	115	ENSP00000301656:K115N	ENSP00000301656:K115N	K	-	3	2	KRT27	36191927	0.958000	0.32768	1.000000	0.80357	0.994000	0.84299	0.203000	0.17315	2.815000	0.96918	0.650000	0.86243	AAG		0.498	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		31	155	1	0	6.04164e-23	0.750413	7.27743e-23	31	155				
GPR89A	653519	broad.mit.edu	37	1	145788844	145788844	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:145788844T>G	ENST00000313835.9	-	9	882	c.739A>C	c.(739-741)Att>Ctt	p.I247L	GPR89A_ENST00000454423.3_Missense_Mutation_p.I127L|GPR89A_ENST00000478703.1_Intron|GPR89A_ENST00000534502.1_Missense_Mutation_p.I222L|GPR89A_ENST00000462900.2_Missense_Mutation_p.I222L			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	247					intracellular pH reduction (GO:0051452)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|regulation of anion transport (GO:0044070)|signal transduction (GO:0007165)	Golgi cisterna membrane (GO:0032580)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)|voltage-gated anion channel activity (GO:0008308)			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TCCTGTTGAATAAGAGTAAGA	0.388																																						ENST00000313835.9																			0				breast(1)|large_intestine(3)|lung(1)|skin(1)	6						c.(739-741)Att>Ctt		G protein-coupled receptor 89A							80.0	83.0	82.0					1																	145788844		2203	4296	6499	SO:0001583	missense	653519				intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity	g.chr1:145788844T>G	AB097024	CCDS72857.1, CCDS72858.1	1q21.1	2008-12-17	2007-06-06	2007-06-06	ENSG00000117262	ENSG00000117262			31984	protein-coding gene	gene with protein product		612821					Standard	NM_001097612		Approved	UNQ192	uc001eot.2	B7ZAQ6	OTTHUMG00000013738	ENST00000313835.9:c.739A>C	1.37:g.145788844T>G	ENSP00000319673:p.Ile247Leu		Somatic				GPR89A_ENST00000462900.2_Missense_Mutation_p.I222L|GPR89A_ENST00000478703.1_Intron|GPR89A_ENST00000454423.3_Missense_Mutation_p.I127L|GPR89A_ENST00000534502.1_Missense_Mutation_p.I222L	p.I247L			WXS	Illumina GAIIx	Phase_I	B7ZAQ6	GPHRA_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		9	882	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		247					A6NN37|B2RUV3|B3KMN3|B4DLT3|B4DXE7|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Missense_Mutation	SNP	ENST00000313835.9	37	c.739A>C	CCDS41377.1	.	.	.	.	.	.	.	.	.	.	.	1.092	-0.663675	0.03428	.	.	ENSG00000117262	ENST00000313835;ENST00000454423;ENST00000534502;ENST00000462900	.	.	.	4.45	3.32	0.38043	.	0.055889	0.64402	D	0.000001	T	0.04227	0.0117	N	0.00648	-1.295	0.58432	D	0.999993	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45160	-0.9280	9	0.02654	T	1	-21.2744	7.4063	0.26993	0.0:0.1065:0.0:0.8935	.	247;247	P0CG08;B7ZAQ6	GPHRB_HUMAN;GPHRA_HUMAN	L	247;127;222;222	.	ENSP00000319673:I247L	I	-	1	0	GPR89A	144500201	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	3.387000	0.52501	1.654000	0.50703	0.172000	0.16884	ATT		0.388	GPR89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038507.2	NM_001097612		24	146	0	0	0	0.804634	0	24	146				
COL14A1	7373	broad.mit.edu	37	8	121228653	121228653	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr8:121228653C>A	ENST00000297848.3	+	14	1931	c.1661C>A	c.(1660-1662)aCc>aAc	p.T554N	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.T554N|COL14A1_ENST00000247781.3_Missense_Mutation_p.T459N|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCTCGATTAACCTGGGACCCA	0.383																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1660-1662)aCc>aAc		collagen, type XIV, alpha 1							121.0	111.0	114.0					8																	121228653		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121228653C>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1661C>A	8.37:g.121228653C>A	ENSP00000297848:p.Thr554Asn		Somatic				COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.T554N|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.T459N	p.T554N	NM_021110.1	NP_066933.1	WXS	Illumina GAIIx	Phase_I	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		14	1931	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		554			Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1661C>A	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.791|2.791	-0.251383|-0.251383	0.05867|0.05867	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000523142|ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.|T;T;T;T	.|0.57752	.|0.38;0.38;0.38;0.38	5.29|5.29	2.48|2.48	0.30137|0.30137	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.509432	.|0.22159	.|N	.|0.063809	T|T	0.48857|0.48857	0.1523|0.1523	L|L	0.53671|0.53671	1.685|1.685	0.31129|0.31129	N|N	0.707915|0.707915	.|B;B	.|0.27910	.|0.032;0.193	.|B;B	.|0.27608	.|0.014;0.081	T|T	0.50346|0.50346	-0.8839|-0.8839	5|10	.|0.31617	.|T	.|0.26	.|.	16.7441|16.7441	0.85467|0.85467	0.0:0.646:0.354:0.0|0.0:0.646:0.354:0.0	.|.	.|554;554	.|Q05707-2;Q05707	.|.;COEA1_HUMAN	K|N	310|554;554;459;367	.|ENSP00000311809:T554N;ENSP00000297848:T554N;ENSP00000247781:T459N;ENSP00000409461:T367N	.|ENSP00000247781:T459N	N|T	+|+	3|2	2|0	COL14A1|COL14A1	121297834|121297834	0.999000|0.999000	0.42202|0.42202	0.250000|0.250000	0.24296|0.24296	0.138000|0.138000	0.21146|0.21146	1.805000|1.805000	0.38883|0.38883	0.363000|0.363000	0.24346|0.24346	-0.176000|-0.176000	0.13171|0.13171	AAC|ACC		0.383	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		28	131	1	0	2.65835e-16	0.717897	3.13094e-16	28	131				
MUC16	94025	broad.mit.edu	37	19	9061452	9061452	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr19:9061452G>A	ENST00000397910.4	-	3	26197	c.25994C>T	c.(25993-25995)gCt>gTt	p.A8665V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8667	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACTAAGTCAGCCAAAACAGA	0.443																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(25993-25995)gCt>gTt		mucin 16, cell surface associated							126.0	114.0	118.0					19																	9061452		1910	4125	6035	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061452G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25994C>T	19.37:g.9061452G>A	ENSP00000381008:p.Ala8665Val		Somatic					p.A8665V	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	26197	-			8667			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.25994C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	6.515	0.463273	0.12402	.	.	ENSG00000181143	ENST00000397910	T	0.22945	1.93	2.16	-1.45	0.08828	.	.	.	.	.	T	0.17280	0.0415	L	0.32530	0.975	.	.	.	B	0.20052	0.041	B	0.23574	0.047	T	0.26780	-1.0093	8	0.87932	D	0	.	5.2558	0.15546	0.4628:0.0:0.5372:0.0	.	8665	B5ME49	.	V	8665	ENSP00000381008:A8665V	ENSP00000381008:A8665V	A	-	2	0	MUC16	8922452	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.024000	0.03603	-0.251000	0.09542	0.394000	0.25966	GCT		0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	117	0	0	0	0.435327	0	14	117				
CCPG1	9236	broad.mit.edu	37	15	55652554	55652554	+	Missense_Mutation	SNP	C	C	T	rs373056381		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr15:55652554C>T	ENST00000310958.6	-	8	1715	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R	CCPG1_ENST00000569205.1_Missense_Mutation_p.G473R|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000442196.3_Missense_Mutation_p.G473R	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	473					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		CTGTGGCTTCCTCTGCCCCCT	0.398																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(1417-1419)Gga>Aga		cell cycle progression 1		C	ARG/GLY,,ARG/GLY,ARG/GLY	0,3642		0,0,1821	304.0	280.0	288.0		1417,,1417,1417	5.6	1.0	15		288	1,8157		0,1,4078	no	missense,intron,missense,missense	CCPG1	NM_001204450.1,NM_001204451.1,NM_004748.4,NM_020739.3	125,,125,125	0,1,5899	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging,,probably-damaging,probably-damaging	473/808,,473/758,473/758	55652554	1,11799	1821	4079	5900	SO:0001583	missense	9236				cell cycle	integral to membrane		g.chr15:55652554C>T	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1417G>A	15.37:g.55652554C>T	ENSP00000311656:p.Gly473Arg		Somatic				DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.G473R|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Missense_Mutation_p.G473R	p.G473R	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	WXS	Illumina GAIIx	Phase_I	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	8	1715	-			473					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	c.1417G>A	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735010	0.69189	0.0	1.23E-4	ENSG00000256061	ENST00000310958;ENST00000442196	T;T	0.35236	1.32;1.32	5.62	5.62	0.85841	.	0.475945	0.24740	N	0.036000	T	0.55784	0.1942	L	0.54323	1.7	0.43503	D	0.995753	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.992;0.995;0.995;0.992	T	0.41662	-0.9496	10	0.24483	T	0.36	.	18.6399	0.91392	0.0:1.0:0.0:0.0	.	473;473;473;329	A8K9T0;Q9ULG6-4;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	R	473	ENSP00000311656:G473R;ENSP00000403400:G473R	ENSP00000311656:G473R	G	-	1	0	DYX1C1	53439846	1.000000	0.71417	0.994000	0.49952	0.949000	0.60115	3.680000	0.54641	2.662000	0.90505	0.655000	0.94253	GGA		0.398	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		108	520	0	0	0	0.870114	0	108	520				
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102.0	92.0	95.0					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C			Somatic				RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	WXS	Illumina GAIIx	Phase_I	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		4	96	0	0	0	0.150653	0	4	96				
TBX21	30009	broad.mit.edu	37	17	45822521	45822521	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr17:45822521G>A	ENST00000177694.1	+	6	1608	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	466					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCAGAGGGACGGGGACCAGAG	0.657																																						ENST00000177694.1																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1396-1398)cGg>cAg		T-box 21							33.0	34.0	34.0					17																	45822521		2203	4300	6503	SO:0001583	missense	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45822521G>A	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.1397G>A	17.37:g.45822521G>A	ENSP00000177694:p.Arg466Gln		Somatic					p.R466Q	NM_013351.1	NP_037483.1	WXS	Illumina GAIIx	Phase_I	Q9UL17	TBX21_HUMAN			6	1608	+			466						Missense_Mutation	SNP	ENST00000177694.1	37	c.1397G>A	CCDS11514.1	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201376	0.22121	.	.	ENSG00000073861	ENST00000177694	D	0.84730	-1.89	4.85	1.43	0.22495	.	1.986640	0.02720	N	0.113909	T	0.77253	0.4103	L	0.29908	0.895	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.59878	-0.7371	10	0.34782	T	0.22	.	5.1991	0.15254	0.4399:0.0:0.5601:0.0	.	466	Q9UL17	TBX21_HUMAN	Q	466	ENSP00000177694:R466Q	ENSP00000177694:R466Q	R	+	2	0	TBX21	43177520	1.000000	0.71417	0.179000	0.23059	0.144000	0.21451	2.836000	0.48183	0.548000	0.28955	0.655000	0.94253	CGG		0.657	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		12	54	0	0	0	0.387290	0	12	54				
SLC5A12	159963	broad.mit.edu	37	11	26734236	26734236	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr11:26734236G>C	ENST00000396005.3	-	2	666	c.357C>G	c.(355-357)ttC>ttG	p.F119L	SLC5A12_ENST00000280467.6_Missense_Mutation_p.F119L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	119					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CTGGTTTGTTGAATCGTAGTT	0.408																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(355-357)ttC>ttG		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							304.0	260.0	275.0					11																	26734236		2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26734236G>C	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.357C>G	11.37:g.26734236G>C	ENSP00000379326:p.Phe119Leu		Somatic				SLC5A12_ENST00000280467.6_Missense_Mutation_p.F119L	p.F119L	NM_178498.3	NP_848593.2	WXS	Illumina GAIIx	Phase_I	Q1EHB4	SC5AC_HUMAN			2	666	-			119					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.357C>G	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714105	0.68730	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.91631	-2.88;-2.88	5.13	3.97	0.46021	.	0.000000	0.85682	D	0.000000	D	0.96037	0.8709	H	0.97896	4.1	0.53005	D	0.999961	B;D	0.54207	0.349;0.965	B;P	0.57371	0.331;0.819	D	0.95115	0.8241	10	0.59425	D	0.04	.	3.7551	0.08582	0.3547:0.0:0.6453:0.0	.	119;119	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	L	119	ENSP00000379326:F119L;ENSP00000280467:F119L	ENSP00000280467:F119L	F	-	3	2	SLC5A12	26690812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.623000	0.67757	2.522000	0.85027	0.655000	0.94253	TTC		0.408	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		8	376	0	0	0	0.278610	0	8	376				
SGOL2	151246	broad.mit.edu	37	2	201434403	201434403	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr2:201434403A>G	ENST00000357799.4	+	6	589	c.491A>G	c.(490-492)aAt>aGt	p.N164S	SGOL2_ENST00000409203.3_Missense_Mutation_p.N164S	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	164					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTAACTTCAAATGATGATGAA	0.318																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(490-492)aAt>aGt		shugoshin-like 2 (S. pombe)							80.0	74.0	76.0					2																	201434403		1857	4082	5939	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201434403A>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.491A>G	2.37:g.201434403A>G	ENSP00000350447:p.Asn164Ser		Somatic				SGOL2_ENST00000409203.3_Missense_Mutation_p.N164S	p.N164S	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	WXS	Illumina GAIIx	Phase_I	Q562F6	SGOL2_HUMAN			6	589	+			164					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.491A>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	9.266	1.044532	0.19748	.	.	ENSG00000163535	ENST00000357799;ENST00000409203	T;T	0.62498	0.02;0.02	5.19	2.7	0.31948	.	1.095090	0.06854	N	0.797798	T	0.53690	0.1812	L	0.51422	1.61	0.22280	N	0.999233	B;B;B;B	0.31817	0.194;0.194;0.194;0.341	B;B;B;B	0.31101	0.082;0.082;0.082;0.124	T	0.45175	-0.9279	10	0.36615	T	0.2	-0.0082	5.2754	0.15647	0.7285:0.1787:0.0928:0.0	.	164;164;164;164	B7Z7S9;Q562F6-2;Q562F6;Q562F6-3	.;.;SGOL2_HUMAN;.	S	164	ENSP00000350447:N164S;ENSP00000386249:N164S	ENSP00000350447:N164S	N	+	2	0	SGOL2	201142648	1.000000	0.71417	0.994000	0.49952	0.551000	0.35334	1.648000	0.37271	0.997000	0.38969	-0.334000	0.08254	AAT		0.318	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		19	78	0	0	0	0.557998	0	19	78				
RFXAP	5994	broad.mit.edu	37	13	37401839	37401839	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr13:37401839T>G	ENST00000255476.2	+	3	902	c.768T>G	c.(766-768)aaT>aaG	p.N256K	RFXAP_ENST00000472888.1_3'UTR	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	256	C-terminal domain.				positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		AGCTATTAAATCAGCAAGTTT	0.318																																						ENST00000255476.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(766-768)aaT>aaG		regulatory factor X-associated protein							96.0	92.0	94.0					13																	37401839		2203	4299	6502	SO:0001583	missense	5994					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr13:37401839T>G	Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.768T>G	13.37:g.37401839T>G	ENSP00000255476:p.Asn256Lys		Somatic				RFXAP_ENST00000472888.1_3'UTR	p.N256K	NM_000538.3	NP_000529.1	WXS	Illumina GAIIx	Phase_I	O00287	RFXAP_HUMAN		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)	3	902	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	256			C-terminal domain.		B2R9T8|Q5VZM6|Q8TC40	Missense_Mutation	SNP	ENST00000255476.2	37	c.768T>G	CCDS9359.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.699485	0.68501	.	.	ENSG00000133111	ENST00000255476	.	.	.	5.62	1.8	0.24995	.	0.343424	0.34628	N	0.003805	T	0.32496	0.0831	L	0.44542	1.39	0.33862	D	0.633854	P	0.36535	0.557	B	0.36845	0.234	T	0.40040	-0.9584	9	0.08599	T	0.76	-12.0729	8.0447	0.30542	0.0:0.3368:0.0:0.6632	.	256	O00287	RFXAP_HUMAN	K	256	.	ENSP00000255476:N256K	N	+	3	2	RFXAP	36299839	1.000000	0.71417	0.978000	0.43139	0.832000	0.47134	1.487000	0.35540	0.072000	0.16694	0.528000	0.53228	AAT		0.318	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044521.1	NM_000538		14	60	0	0	0	0.457914	0	14	60				
HERPUD2	64224	broad.mit.edu	37	7	35678029	35678029	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr7:35678029T>G	ENST00000396081.1	-	5	1352	c.548A>C	c.(547-549)tAt>tCt	p.Y183S	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Missense_Mutation_p.Y183S	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	183					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						AAACGCGGGATACACTGGGAA	0.398																																						ENST00000396081.1																			0				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						c.(547-549)tAt>tCt		HERPUD family member 2							79.0	73.0	75.0					7																	35678029		2203	4300	6503	SO:0001583	missense	64224				response to unfolded protein	integral to membrane		g.chr7:35678029T>G	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.548A>C	7.37:g.35678029T>G	ENSP00000379390:p.Tyr183Ser		Somatic				HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Missense_Mutation_p.Y183S	p.Y183S	NM_022373.4	NP_071768.3	WXS	Illumina GAIIx	Phase_I	Q9BSE4	HERP2_HUMAN			5	1352	-			183					A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	c.548A>C	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089466	0.76756	.	.	ENSG00000122557	ENST00000396081;ENST00000311350;ENST00000438224;ENST00000413517	T;T;T;T	0.39592	2.89;2.89;1.07;1.24	5.04	5.04	0.67666	.	0.175969	0.49916	D	0.000122	T	0.45276	0.1334	L	0.52905	1.665	0.48087	D	0.999584	D	0.54047	0.964	P	0.46629	0.522	T	0.42999	-0.9418	10	0.41790	T	0.15	-24.2418	15.057	0.71921	0.0:0.0:0.0:1.0	.	183	Q9BSE4	HERP2_HUMAN	S	183;183;119;157	ENSP00000379390:Y183S;ENSP00000310729:Y183S;ENSP00000415475:Y119S;ENSP00000391015:Y157S	ENSP00000310729:Y183S	Y	-	2	0	HERPUD2	35644554	1.000000	0.71417	0.045000	0.18777	0.008000	0.06430	7.757000	0.85209	2.008000	0.58898	0.533000	0.62120	TAT		0.398	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		16	88	0	0	0	0.520397	0	16	88				
ROS1	6098	broad.mit.edu	37	6	117704636	117704636	+	Missense_Mutation	SNP	G	G	T	rs201235239		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr6:117704636G>T	ENST00000368508.3	-	16	2538	c.2340C>A	c.(2338-2340)gaC>gaA	p.D780E	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.D775E	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	780					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGGTAACAATGTCTGTGTGTC	0.403			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(2338-2340)gaC>gaA		c-ros oncogene 1 , receptor tyrosine kinase							208.0	186.0	193.0					6																	117704636		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117704636G>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2340C>A	6.37:g.117704636G>T	ENSP00000357494:p.Asp780Glu		Somatic				ROS1_ENST00000368507.3_Missense_Mutation_p.D775E|GOPC_ENST00000467125.1_Intron	p.D780E	NM_002944.2	NP_002935.2	WXS	Illumina GAIIx	Phase_I	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	16	2538	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	780					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.2340C>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891633	0.33442	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.90444	-2.67;-2.67	4.57	-1.31	0.09230	.	0.000000	0.64402	D	0.000014	T	0.72486	0.3466	N	0.12182	0.205	0.80722	D	1	P	0.43094	0.799	P	0.47430	0.547	T	0.68637	-0.5356	10	0.37606	T	0.19	.	6.5761	0.22567	0.4397:0.0:0.4438:0.1165	.	780	P08922	ROS1_HUMAN	E	780;775	ENSP00000357494:D780E;ENSP00000357493:D775E	ENSP00000357493:D775E	D	-	3	2	ROS1	117811329	0.989000	0.36119	0.979000	0.43373	0.285000	0.27093	0.095000	0.15127	-0.443000	0.07180	-1.731000	0.00696	GAC		0.403	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			48	176	1	0	2.9001e-28	0.870114	3.57454e-28	48	176				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	23666							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu		Somatic				UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron	p.R73L			WXS	Illumina GAIIx	Phase_I					2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	85	1	0	0.00024832	0.150653	0.000258058	4	85				
BDP1	55814	broad.mit.edu	37	5	70798507	70798507	+	Silent	SNP	G	G	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr5:70798507G>A	ENST00000358731.4	+	15	2393	c.2130G>A	c.(2128-2130)aaG>aaA	p.K710K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	710					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GATTGCAAAAGCCAAAGCCAA	0.403																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2128-2130)aaG>aaA		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							91.0	84.0	86.0					5																	70798507		1840	4088	5928	SO:0001819	synonymous_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70798507G>A	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2130G>A	5.37:g.70798507G>A			Somatic				BDP1_ENST00000380675.2_5'UTR	p.K710K	NM_018429.2	NP_060899.2	WXS	Illumina GAIIx	Phase_I	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	15	2393	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	710					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	c.2130G>A	CCDS43328.1																																																																																				0.403	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		20	70	0	0	0	0.575678	0	20	70				
TADA1	117143	broad.mit.edu	37	1	166826832	166826832	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:166826832G>A	ENST00000367874.4	-	8	1073	c.980C>T	c.(979-981)gCa>gTa	p.A327V	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	327					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						CTCCTTGGCTGCCAAGCGCTG	0.453																																						ENST00000367874.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						c.(979-981)gCa>gTa		transcriptional adaptor 1							94.0	99.0	97.0					1																	166826832		2203	4300	6503	SO:0001583	missense	117143				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr1:166826832G>A	BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.980C>T	1.37:g.166826832G>A	ENSP00000356848:p.Ala327Val		Somatic				TADA1_ENST00000467021.1_5'UTR	p.A327V	NM_053053.3	NP_444281.1	WXS	Illumina GAIIx	Phase_I	Q96BN2	TADA1_HUMAN			8	1073	-			327					A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	37	c.980C>T	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.847939	0.71603	.	.	ENSG00000152382	ENST00000367874	T	0.55930	0.49	4.75	3.83	0.44106	.	0.109197	0.64402	N	0.000008	T	0.28234	0.0697	L	0.51422	1.61	0.43326	D	0.995356	P	0.51057	0.941	B	0.37780	0.258	T	0.15925	-1.0420	9	0.42905	T	0.14	-2.9455	12.3	0.54868	0.0:0.0:0.8294:0.1706	.	327	Q96BN2	TADA1_HUMAN	V	327	ENSP00000356848:A327V	ENSP00000356848:A327V	A	-	2	0	TADA1	165093456	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	9.080000	0.94040	1.315000	0.45114	0.655000	0.94253	GCA		0.453	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		4	150	0	0	0	0.150653	0	4	150				
VIM	7431	broad.mit.edu	37	10	17277297	17277297	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr10:17277297C>T	ENST00000224237.5	+	6	1283	c.1138C>T	c.(1138-1140)Ctt>Ttt	p.L380F	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Missense_Mutation_p.L380F			P08670	VIME_HUMAN	vimentin	380	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGCTCGTCACCTTCGTGAATA	0.493																																						ENST00000544301.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1138-1140)Ctt>Ttt		vimentin							145.0	128.0	134.0					10																	17277297		2203	4300	6503	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17277297C>T	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1138C>T	10.37:g.17277297C>T	ENSP00000224237:p.Leu380Phe		Somatic				VIM_ENST00000224237.5_Missense_Mutation_p.L380F	p.L380F	NM_003380.3	NP_003371.2	WXS	Illumina GAIIx	Phase_I	P08670	VIME_HUMAN			7	1551	+			380			Coil 2.|Rod.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.1138C>T	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840451	0.91197	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.90563	-2.69;-2.69	5.87	5.87	0.94306	Filament (1);	0.000000	0.41500	U	0.000879	D	0.97093	0.9050	H	0.97829	4.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97827	1.0260	10	0.87932	D	0	.	13.4671	0.61260	0.0:0.9288:0.0:0.0712	.	380;367;380;380	Q53HU8;F5H288;B0YJC4;P08670	.;.;.;VIME_HUMAN	F	380;380;367	ENSP00000446007:L380F;ENSP00000224237:L380F	ENSP00000224237:L380F	L	+	1	0	VIM	17317303	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.084000	0.71335	2.784000	0.95788	0.638000	0.83543	CTT		0.493	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		20	86	0	0	0	0.575678	0	20	86				
LRBA	987	broad.mit.edu	37	4	151656456	151656456	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr4:151656456A>T	ENST00000357115.3	-	36	5951	c.5708T>A	c.(5707-5709)cTg>cAg	p.L1903Q	LRBA_ENST00000507224.1_Missense_Mutation_p.L1903Q|LRBA_ENST00000510413.1_Missense_Mutation_p.L1903Q|LRBA_ENST00000535741.1_Missense_Mutation_p.L1903Q	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1903						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGCCTGCTCAGGATAAATTC	0.363																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(5707-5709)cTg>cAg		LPS-responsive vesicle trafficking, beach and anchor containing							304.0	264.0	278.0					4																	151656456		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151656456A>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5708T>A	4.37:g.151656456A>T	ENSP00000349629:p.Leu1903Gln		Somatic				LRBA_ENST00000507224.1_Missense_Mutation_p.L1903Q|LRBA_ENST00000510413.1_Missense_Mutation_p.L1903Q|LRBA_ENST00000357115.3_Missense_Mutation_p.L1903Q	p.L1903Q			WXS	Illumina GAIIx	Phase_I	P50851	LRBA_HUMAN			36	6181	-	all_hematologic(180;0.151)		1903					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.5708T>A	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.4|24.4	4.529754|4.529754	0.85706|0.85706	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.61742|.	0.08;0.08;0.08;0.08|.	5.06|5.06	5.06|5.06	0.68205|0.68205	Domain of unknown function DUF1088 (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|.	0.77219|.	0.4098|.	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|.	0.79815|.	-0.1644|.	10|.	0.62326|.	D|.	0.03|.	.|.	14.7996|14.7996	0.69903|0.69903	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1903;1903|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	Q|R	1903|556	ENSP00000446299:L1903Q;ENSP00000421552:L1903Q;ENSP00000349629:L1903Q;ENSP00000422180:L1903Q|.	ENSP00000349629:L1903Q|.	L|X	-|-	2|1	0|0	LRBA|LRBA	151875906|151875906	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.474000|8.474000	0.90413|0.90413	2.025000|2.025000	0.59659|0.59659	0.528000|0.528000	0.53228|0.53228	CTG|TGA		0.363	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			55	305	0	0	0	0.870114	0	55	305				
RGS3	5998	broad.mit.edu	37	9	116356444	116356444	+	Intron	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr9:116356444C>T	ENST00000374140.2	+	23	3289				RGS3_ENST00000462403.1_Missense_Mutation_p.A82V|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000394646.3_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GCGTGTGTGGCTGCAGCCTGC	0.667																																						ENST00000462403.1																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(244-246)gCt>gTt		regulator of G-protein signaling 3							51.0	57.0	55.0					9																	116356444		2203	4299	6502	SO:0001627	intron_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116356444C>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-266C>T	9.37:g.116356444C>T			Somatic				RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000343817.5_Intron	p.A82V	NM_144489.2	NP_652760.2	WXS	Illumina GAIIx	Phase_I	P49796	RGS3_HUMAN			1	679	+			0					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.245C>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815961	0.50527	.	.	ENSG00000138835	ENST00000462403	T	0.60920	0.15	5.08	4.12	0.48240	.	.	.	.	.	T	0.37183	0.0994	N	0.08118	0	0.19945	N	0.999949	B	0.30793	0.295	B	0.24701	0.055	T	0.32534	-0.9903	9	0.66056	D	0.02	.	12.3715	0.55258	0.0:0.8139:0.1861:0.0	.	82	Q5VZ06	.	V	82	ENSP00000436168:A82V	ENSP00000436168:A82V	A	+	2	0	RGS3	115396265	0.000000	0.05858	0.009000	0.14445	0.545000	0.35147	0.374000	0.20501	2.355000	0.79922	0.558000	0.71614	GCT		0.667	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		29	120	0	0	0	0.717897	0	29	120				
JAGN1	84522	broad.mit.edu	37	3	9934835	9934835	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr3:9934835T>A	ENST00000307768.4	+	2	495	c.326T>A	c.(325-327)cTc>cAc	p.L109H		NM_032492.3	NP_115881.3			jagunal homolog 1 (Drosophila)											breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					AGCATGGGACTCTTTTCCATC	0.517																																						ENST00000307768.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10						c.(325-327)cTc>cAc		jagunal homolog 1 (Drosophila)							177.0	132.0	147.0					3																	9934835		2203	4300	6503	SO:0001583	missense	84522					endoplasmic reticulum membrane|integral to membrane		g.chr3:9934835T>A	AK074760	CCDS2588.1	3p25.2	2010-03-23			ENSG00000171135	ENSG00000171135			26926	protein-coding gene	gene with protein product						12477932	Standard	NM_032492		Approved	GL009, FLJ14602	uc003btt.4	Q8N5M9	OTTHUMG00000128523	ENST00000307768.4:c.326T>A	3.37:g.9934835T>A	ENSP00000306106:p.Leu109His		Somatic					p.L109H	NM_032492.3	NP_115881.3	WXS	Illumina GAIIx	Phase_I	Q8N5M9	JAGN1_HUMAN			2	495	+	Medulloblastoma(99;0.227)		109						Missense_Mutation	SNP	ENST00000307768.4	37	c.326T>A	CCDS2588.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628295	0.87560	.	.	ENSG00000171135	ENST00000307768;ENST00000543379	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.83949	0.5365	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.86941	0.2079	9	0.87932	D	0	-19.5472	15.6723	0.77289	0.0:0.0:0.0:1.0	.	109	Q8N5M9	JAGN1_HUMAN	H	109	.	ENSP00000306106:L109H	L	+	2	0	JAGN1	9909835	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.998000	0.88491	2.187000	0.69744	0.402000	0.26972	CTC		0.517	JAGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250335.1	NM_032492		25	96	0	0	0	0.667858	0	25	96				
SMG1	23049	broad.mit.edu	37	16	18908185	18908185	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr16:18908185A>T	ENST00000446231.2	-	2	598	c.186T>A	c.(184-186)aaT>aaA	p.N62K	SMG1_ENST00000389467.3_Missense_Mutation_p.N62K|SMG1_ENST00000565224.1_Missense_Mutation_p.N36K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	62	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCACAGCTGAATTTGAAGGTT	0.403																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(184-186)aaT>aaA		SMG1 phosphatidylinositol 3-kinase-related kinase							15.0	14.0	14.0					16																	18908185		1833	4055	5888	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18908185A>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.186T>A	16.37:g.18908185A>T	ENSP00000402515:p.Asn62Lys		Somatic				SMG1_ENST00000565224.1_Missense_Mutation_p.N36K|SMG1_ENST00000389467.3_Missense_Mutation_p.N62K	p.N62K			WXS	Illumina GAIIx	Phase_I	Q96Q15	SMG1_HUMAN			2	598	-			62			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.186T>A	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.326293	0.41197	.	.	ENSG00000157106	ENST00000446231;ENST00000389467;ENST00000532700	T;T;T	0.11712	2.75;2.75;2.75	4.83	4.83	0.62350	.	0.170093	0.39544	U	0.001330	T	0.07999	0.0200	N	0.19112	0.55	0.37068	D	0.89839	B	0.25105	0.118	B	0.21917	0.037	T	0.31024	-0.9958	10	0.24483	T	0.36	.	14.4133	0.67132	1.0:0.0:0.0:0.0	.	62	Q96Q15	SMG1_HUMAN	K	62;62;36	ENSP00000402515:N62K;ENSP00000374118:N62K;ENSP00000432825:N36K	ENSP00000374118:N62K	N	-	3	2	SMG1	18815686	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.653000	0.61462	1.807000	0.52817	0.454000	0.30748	AAT		0.403	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		7	26	0	0	0	0.248553	0	7	26				
TNC	3371	broad.mit.edu	37	9	117852928	117852928	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr9:117852928T>A	ENST00000350763.4	-	2	781	c.370A>T	c.(370-372)Agc>Tgc	p.S124C	TNC_ENST00000341037.4_Missense_Mutation_p.S124C|TNC_ENST00000345230.3_Missense_Mutation_p.S124C|TNC_ENST00000340094.3_Missense_Mutation_p.S124C|TNC_ENST00000542877.1_Missense_Mutation_p.S124C|TNC_ENST00000535648.1_Missense_Mutation_p.S124C|TNC_ENST00000423613.2_Missense_Mutation_p.S124C|TNC_ENST00000346706.3_Missense_Mutation_p.S124C|TNC_ENST00000537320.1_Missense_Mutation_p.S124C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	124					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCAGTCTGCTCAGCAGCTCC	0.592																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(370-372)Agc>Tgc		tenascin C							139.0	150.0	146.0					9																	117852928		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117852928T>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.370A>T	9.37:g.117852928T>A	ENSP00000265131:p.Ser124Cys		Somatic				TNC_ENST00000535648.1_Missense_Mutation_p.S124C|TNC_ENST00000340094.3_Missense_Mutation_p.S124C|TNC_ENST00000423613.2_Missense_Mutation_p.S124C|TNC_ENST00000345230.3_Missense_Mutation_p.S124C|TNC_ENST00000341037.4_Missense_Mutation_p.S124C|TNC_ENST00000537320.1_Missense_Mutation_p.S124C|TNC_ENST00000542877.1_Missense_Mutation_p.S124C|TNC_ENST00000346706.3_Missense_Mutation_p.S124C	p.S124C	NM_002160.3	NP_002151.2	WXS	Illumina GAIIx	Phase_I	P24821	TENA_HUMAN			2	781	-			124					C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.370A>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.973541	0.92919	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.94	5.94	0.96194	.	0.244211	0.53938	D	0.000056	T	0.58278	0.2111	M	0.65975	2.015	0.51767	D	0.999937	D;D	0.76494	0.999;0.999	D;D	0.68353	0.957;0.95	T	0.60782	-0.7195	10	0.66056	D	0.02	.	15.5674	0.76303	0.0:0.0:0.0:1.0	.	124;124	E9PC84;P24821	.;TENA_HUMAN	C	124	ENSP00000344400:S124C;ENSP00000438152:S124C;ENSP00000344555:S124C;ENSP00000345861:S124C;ENSP00000265131:S124C;ENSP00000339553:S124C;ENSP00000411406:S124C;ENSP00000443478:S124C;ENSP00000442242:S124C	ENSP00000344400:S124C	S	-	1	0	TNC	116892749	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	6.152000	0.71812	2.261000	0.74972	0.533000	0.62120	AGC		0.592	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		80	352	0	0	0	0.870114	0	80	352				
BRD9	65980	broad.mit.edu	37	5	864655	864655	+	Silent	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr5:864655C>T	ENST00000467963.1	-	16	1888	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	BRD9_ENST00000388890.4_Silent_p.E458E|BRD9_ENST00000483173.1_Silent_p.E521E|BRD9_ENST00000323510.4_Silent_p.E478E	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	574					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CGTCTGGCTGCTCCCCGACAC	0.562																																						ENST00000323510.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(1432-1434)gaG>gaA		bromodomain containing 9							71.0	73.0	72.0					5																	864655		2203	4300	6503	SO:0001819	synonymous_variant	65980						nucleic acid binding	g.chr5:864655C>T	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1722G>A	5.37:g.864655C>T			Somatic				BRD9_ENST00000467963.1_Silent_p.E574E|BRD9_ENST00000483173.1_Silent_p.E521E|BRD9_ENST00000388890.4_Silent_p.E458E	p.E478E			WXS	Illumina GAIIx	Phase_I	Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		13	1433	-			574					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	c.1434G>A	CCDS34127.2																																																																																				0.562	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		12	80	0	0	0	0.435327	0	12	80				
RPAP3	79657	broad.mit.edu	37	12	48063952	48063952	+	Silent	SNP	T	T	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr12:48063952T>G	ENST00000005386.3	-	13	1579	c.1464A>C	c.(1462-1464)acA>acC	p.T488T	RPAP3_ENST00000432584.3_Silent_p.T329T|RPAP3_ENST00000380650.4_Silent_p.T454T	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	488										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					GAGTATCACTTGTGGGAAAAA	0.388																																						ENST00000005386.3																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1462-1464)acA>acC		RNA polymerase II associated protein 3							193.0	182.0	186.0					12																	48063952		2203	4300	6503	SO:0001819	synonymous_variant	79657						binding	g.chr12:48063952T>G	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.1464A>C	12.37:g.48063952T>G			Somatic				RPAP3_ENST00000432584.3_Silent_p.T329T|RPAP3_ENST00000380650.4_Silent_p.T454T	p.T488T	NM_024604.2	NP_078880.2	WXS	Illumina GAIIx	Phase_I	Q9H6T3	RPAP3_HUMAN			13	1579	-	Lung SC(27;0.192)		488					B4DRW9|Q6PHR5	Silent	SNP	ENST00000005386.3	37	c.1464A>C	CCDS8753.1																																																																																				0.388	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		37	190	0	0	0	0.796494	0	37	190				
IARS2	55699	broad.mit.edu	37	1	220284279	220284279	+	Splice_Site	SNP	G	G	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:220284279G>T	ENST00000302637.5	+	11	1583	c.1479G>T	c.(1477-1479)aaG>aaT	p.K493N	IARS2_ENST00000366922.1_Splice_Site_p.K421N	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	493					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CTGCAGCCAAGGTATAAAAAG	0.453																																						ENST00000366922.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.e11+1		isoleucyl-tRNA synthetase 2, mitochondrial	L-Isoleucine(DB00167)						93.0	88.0	90.0					1																	220284279		2203	4300	6503	SO:0001630	splice_region_variant	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220284279G>T	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1479+1G>T	1.37:g.220284279G>T			Somatic				IARS2_ENST00000302637.5_Splice_Site_p.K493_splice	p.K421_splice			WXS	Illumina GAIIx	Phase_I	Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	11	1594	+			493					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Splice_Site	SNP	ENST00000302637.5	37	c.1263_splice	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833794	0.71258	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.35973	1.28;1.28	5.3	5.3	0.74995	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.137673	0.64402	D	0.000003	T	0.50069	0.1594	L	0.55743	1.74	0.80722	D	1	P	0.48998	0.918	P	0.52514	0.701	T	0.51545	-0.8692	10	0.87932	D	0	-7.9171	19.3042	0.94153	0.0:0.0:1.0:0.0	.	493	Q9NSE4	SYIM_HUMAN	N	421;493	ENSP00000355889:K421N;ENSP00000303279:K493N	ENSP00000303279:K493N	K	+	3	2	IARS2	218350902	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	7.251000	0.78297	2.640000	0.89533	0.563000	0.77884	AAG		0.453	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060	Missense_Mutation	9	83	1	0	7.48243e-07	0.335167	8.09324e-07	9	83				
DIP2B	57609	broad.mit.edu	37	12	51089695	51089695	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr12:51089695A>C	ENST00000301180.5	+	16	1912	c.1878A>C	c.(1876-1878)agA>agC	p.R626S		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	626						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGGACCAAAGAGACGTGAGCT	0.423																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(1876-1878)agA>agC		DIP2 disco-interacting protein 2 homolog B (Drosophila)							224.0	193.0	204.0					12																	51089695		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51089695A>C	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1878A>C	12.37:g.51089695A>C	ENSP00000301180:p.Arg626Ser		Somatic					p.R626S	NM_173602.2	NP_775873.2	WXS	Illumina GAIIx	Phase_I	Q9P265	DIP2B_HUMAN			16	1912	+			626					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.1878A>C	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022041	0.54576	.	.	ENSG00000066084	ENST00000301180	T	0.39592	1.07	4.96	3.83	0.44106	AMP-dependent synthetase/ligase (1);	0.104610	0.64402	D	0.000003	T	0.43277	0.1240	M	0.64997	1.995	0.44508	D	0.997453	B	0.31290	0.318	B	0.42593	0.392	T	0.22347	-1.0219	10	0.22109	T	0.4	-17.6321	6.3917	0.21591	0.7824:0.0:0.2176:0.0	.	626	Q9P265	DIP2B_HUMAN	S	626	ENSP00000301180:R626S	ENSP00000301180:R626S	R	+	3	2	DIP2B	49375962	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.396000	0.44468	0.934000	0.37316	0.454000	0.30748	AGA		0.423	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		63	217	0	0	0	0.870114	0	63	217				
C11orf16	56673	broad.mit.edu	37	11	8948531	8948531	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr11:8948531G>T	ENST00000326053.5	-	4	621	c.515C>A	c.(514-516)cCt>cAt	p.P172H	C11orf16_ENST00000525780.1_Missense_Mutation_p.P172H|C11orf16_ENST00000528998.1_5'Flank	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	172										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		AACAGTGCCAGGGCCATACTG	0.547																																						ENST00000326053.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(514-516)cCt>cAt		chromosome 11 open reading frame 16							87.0	80.0	82.0					11																	8948531		2201	4296	6497	SO:0001583	missense	56673							g.chr11:8948531G>T	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.515C>A	11.37:g.8948531G>T	ENSP00000318999:p.Pro172His		Somatic				C11orf16_ENST00000525780.1_Missense_Mutation_p.P172H	p.P172H	NM_020643.2	NP_065694.2	WXS	Illumina GAIIx	Phase_I	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	4	621	-			172					Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	c.515C>A	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990133	0.54041	.	.	ENSG00000176029	ENST00000525780;ENST00000326053	T;T	0.60424	0.19;0.19	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000011	T	0.76205	0.3955	M	0.72894	2.215	0.42333	D	0.992309	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78513	-0.2175	10	0.87932	D	0	-4.9337	17.8376	0.88704	0.0:0.0:1.0:0.0	.	172;172	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	H	172	ENSP00000436818:P172H;ENSP00000318999:P172H	ENSP00000318999:P172H	P	-	2	0	C11orf16	8905107	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	6.755000	0.74914	2.643000	0.89663	0.591000	0.81541	CCT		0.547	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		18	91	1	0	2.94398e-08	0.557998	3.25065e-08	18	91				
TTN	7273	broad.mit.edu	37	2	179462404	179462404	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr2:179462404T>A	ENST00000591111.1	-	244	52706	c.52482A>T	c.(52480-52482)caA>caT	p.Q17494H	TTN_ENST00000460472.2_Missense_Mutation_p.Q10070H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q16567H|TTN_ENST00000589042.1_Missense_Mutation_p.Q19135H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q10262H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q10195H|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17494	Ig-like 103.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTGGCTTCTTGAGGTAAGG	0.483																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(57403-57405)caA>caT		titin							139.0	129.0	132.0					2																	179462404		1986	4163	6149	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179462404T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52482A>T	2.37:g.179462404T>A	ENSP00000465570:p.Gln17494His		Somatic				TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q17494H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q10195H|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q10262H|TTN_ENST00000342992.6_Missense_Mutation_p.Q16567H|TTN_ENST00000460472.2_Missense_Mutation_p.Q10070H|TTN-AS1_ENST00000456053.1_RNA	p.Q19135H	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		294	57629	-			17494			Ig-like 108.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.57405A>T		.	.	.	.	.	.	.	.	.	.	T	14.72	2.619725	0.46736	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	6.07	1.12	0.20585	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55545	0.1927	N	0.25380	0.74	0.29897	N	0.824745	P;P;P;P	0.37612	0.602;0.602;0.602;0.602	B;B;B;B	0.41619	0.361;0.361;0.361;0.361	T	0.55263	-0.8168	9	0.87932	D	0	.	9.5723	0.39436	0.0:0.2591:0.0:0.7409	.	10070;10195;10262;17494	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	16567;10070;10262;10195;10068	ENSP00000343764:Q16567H;ENSP00000434586:Q10070H;ENSP00000340554:Q10262H;ENSP00000352154:Q10195H	ENSP00000340554:Q10262H	Q	-	3	2	TTN	179170649	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	0.807000	0.27140	-0.030000	0.13804	0.533000	0.62120	CAA		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	75	0	0	0	0.457914	0	14	75				
TEX11	56159	broad.mit.edu	37	X	69871375	69871375	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chrX:69871375G>A	ENST00000395889.2	-	18	1608	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*	TEX11_ENST00000374333.2_Nonsense_Mutation_p.R470*|TEX11_ENST00000344304.3_Nonsense_Mutation_p.R485*|TEX11_ENST00000374320.2_Nonsense_Mutation_p.R160*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	485					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GGGTCATGTCGTTCAGCTTCT	0.348																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(1453-1455)Cga>Tga		testis expressed 11							46.0	43.0	44.0					X																	69871375		2203	4299	6502	SO:0001587	stop_gained	56159						protein binding	g.chrX:69871375G>A	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1453C>T	X.37:g.69871375G>A	ENSP00000379226:p.Arg485*		Somatic				TEX11_ENST00000374333.2_Nonsense_Mutation_p.R470*|TEX11_ENST00000344304.3_Nonsense_Mutation_p.R485*|TEX11_ENST00000374320.2_Nonsense_Mutation_p.R160*	p.R485*	NM_001003811.1	NP_001003811.1	WXS	Illumina GAIIx	Phase_I	Q8IYF3	TEX11_HUMAN			18	1608	-	Renal(35;0.156)		485					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Nonsense_Mutation	SNP	ENST00000395889.2	37	c.1453C>T	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015795	0.75161	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	.	.	.	2.98	-0.294	0.12831	.	0.258114	0.31872	N	0.006924	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9573	7.7923	0.29127	0.0:0.0:0.3467:0.6533	.	.	.	.	X	470;485;160;485	.	.	R	-	1	2	TEX11	69788100	0.293000	0.24371	0.001000	0.08648	0.104000	0.19210	0.473000	0.22132	0.031000	0.15407	-1.279000	0.01387	CGA		0.348	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			13	38	0	0	0	0.479597	0	13	38				
GOLGB1	2804	broad.mit.edu	37	3	121415881	121415881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr3:121415881C>T	ENST00000340645.5	-	13	3599	c.3474G>A	c.(3472-3474)tgG>tgA	p.W1158*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.W1163*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1158					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTTCTGGTTTCCAGTGTTCAC	0.433																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(3487-3489)tgG>tgA		golgin B1							128.0	124.0	125.0					3																	121415881		2203	4299	6502	SO:0001587	stop_gained	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121415881C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3474G>A	3.37:g.121415881C>T	ENSP00000341848:p.Trp1158*		Somatic				GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.W1158*	p.W1163*	NM_001256486.1	NP_001243415.1	WXS	Illumina GAIIx	Phase_I	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	3599	-			1158					B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	37	c.3489G>A	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.665750|5.665750	0.96745|0.96745	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000489400|ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	.|.	.|.	.|.	5.83|5.83	4.96|4.96	0.65561|0.65561	.|.	.|0.447945	.|0.21652	.|N	.|0.071167	T|.	0.56819|.	0.2011|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.67499|.	-0.5655|.	3|.	.|0.41790	.|T	.|0.15	.|.	10.5587|10.5587	0.45133|0.45133	0.0:0.9125:0.0:0.0875|0.0:0.9125:0.0:0.0875	.|.	.|.	.|.	.|.	E|X	1029|1158;1163;1122;970	.|.	.|ENSP00000341848:W1158X	G|W	-|-	2|3	0|0	GOLGB1|GOLGB1	122898571|122898571	0.002000|0.002000	0.14202|0.14202	0.927000|0.927000	0.36925|0.36925	0.539000|0.539000	0.34962|0.34962	0.631000|0.631000	0.24568|0.24568	1.469000|1.469000	0.48083|0.48083	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.433	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		70	258	0	0	0	0.870114	0	70	258				
RS1	6247	broad.mit.edu	37	X	18690181	18690181	+	Missense_Mutation	SNP	C	C	T	rs374672514		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chrX:18690181C>T	ENST00000379984.3	-	1	48	c.8G>A	c.(7-9)cGc>cAc	p.R3H		NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	3					adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.R3H(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TTCTATCTTGCGTGACATCTT	0.428																																						ENST00000379984.3																			1	Substitution - Missense(1)	p.R3H(1)	endometrium(1)	cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15						c.(7-9)cGc>cAc		retinoschisin 1		C	HIS/ARG	0,3835		0,0,1632,571	156.0	125.0	136.0		8	-3.2	0.9	X		136	1,6727		0,1,2427,1872	no	missense	RS1	NM_000330.3	29	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign	3/225	18690181	1,10562	2203	4300	6503	SO:0001583	missense	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18690181C>T	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.8G>A	X.37:g.18690181C>T	ENSP00000369320:p.Arg3His		Somatic					p.R3H	NM_000330.3	NP_000321.1	WXS	Illumina GAIIx	Phase_I	O15537	XLRS1_HUMAN			1	48	-	Hepatocellular(33;0.183)		3					Q0QD39	Missense_Mutation	SNP	ENST00000379984.3	37	c.8G>A	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678011	0.29783	0.0	1.49E-4	ENSG00000102104	ENST00000379984	D	0.98419	-4.92	5.69	-3.16	0.05217	.	1.268860	0.04873	N	0.446309	D	0.89605	0.6763	N	0.03608	-0.345	0.21147	N	0.999777	B	0.10296	0.003	B	0.04013	0.001	D	0.87769	0.2604	10	0.02654	T	1	.	0.4628	0.00519	0.3113:0.2251:0.119:0.3445	.	3	O15537	XLRS1_HUMAN	H	3	ENSP00000369320:R3H	ENSP00000369320:R3H	R	-	2	0	RS1	18600102	0.051000	0.20477	0.911000	0.35937	0.926000	0.56050	-2.037000	0.01420	-0.504000	0.06577	0.600000	0.82982	CGC		0.428	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			4	107	0	0	0	0.217242	0	4	107				
TBC1D2	55357	broad.mit.edu	37	9	101017592	101017592	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr9:101017592G>T	ENST00000342112.5	-	0	280				TBC1D2_ENST00000375064.1_Missense_Mutation_p.L78M|TBC1D2_ENST00000375066.5_Missense_Mutation_p.L78M			Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2						positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GAGTAATACAGCTGACATTTC	0.547																																						ENST00000342112.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24								TBC1 domain family, member 2							83.0	85.0	84.0					9																	101017592		2203	4300	6503			55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:101017592G>T	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000342112.5:c.-281C>A	9.37:g.101017592G>T			Somatic				TBC1D2_ENST00000375064.1_Missense_Mutation_p.L78M|TBC1D2_ENST00000375066.5_Missense_Mutation_p.L78M				WXS	Illumina GAIIx	Phase_I	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	0	280	-		Myeloproliferative disorder(762;0.0255)						B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Translation_Start_Site	SNP	ENST00000342112.5	37			.	.	.	.	.	.	.	.	.	.	G	16.78	3.218438	0.58560	.	.	ENSG00000095383	ENST00000375064;ENST00000375066	T;T	0.78003	-1.14;-1.14	5.66	4.66	0.58398	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000007	D	0.89245	0.6660	H	0.94183	3.505	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	D	0.89725	0.3922	10	0.72032	D	0.01	.	6.4871	0.22095	0.1492:0.0:0.8508:0.0	.	78;78	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	M	78	ENSP00000364205:L78M;ENSP00000364207:L78M	ENSP00000364205:L78M	L	-	1	2	TBC1D2	100057413	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	2.177000	0.42509	2.665000	0.90641	0.561000	0.74099	CTG		0.547	TBC1D2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000053368.1	NM_018421		24	89	1	0	1.96895e-08	0.639603	2.19693e-08	24	89				
KLHDC10	23008	broad.mit.edu	37	7	129769357	129769357	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr7:129769357G>C	ENST00000335420.5	+	9	1194	c.1060G>C	c.(1060-1062)Gtg>Ctg	p.V354L		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	354						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						TTTCCAATGGGTGAAGCTCCC	0.403																																						ENST00000335420.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						c.(1060-1062)Gtg>Ctg		kelch domain containing 10							140.0	131.0	134.0					7																	129769357		2203	4300	6503	SO:0001583	missense	23008							g.chr7:129769357G>C		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"""scruin like at the midline homolog (Drosophila)"""	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.1060G>C	7.37:g.129769357G>C	ENSP00000334140:p.Val354Leu		Somatic					p.V354L	NM_014997.3	NP_055812.1	WXS	Illumina GAIIx	Phase_I	Q6PID8	KLD10_HUMAN			9	1194	+			354					Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	c.1060G>C	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345989	0.24426	.	.	ENSG00000128607	ENST00000335420	T	0.63417	-0.04	5.87	4.95	0.65309	Galactose oxidase, beta-propeller (1);	0.492022	0.24779	N	0.035672	T	0.41994	0.1183	N	0.19112	0.55	0.42906	D	0.994244	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.10450	0.0;0.001;0.005	T	0.26710	-1.0095	10	0.11485	T	0.65	-13.3745	9.5712	0.39429	0.073:0.0:0.7846:0.1424	.	203;211;354	Q96G43;Q6PID8-2;Q6PID8	.;.;KLD10_HUMAN	L	354	ENSP00000334140:V354L	ENSP00000334140:V354L	V	+	1	0	KLHDC10	129556593	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.692000	0.61746	2.941000	0.99782	0.655000	0.94253	GTG		0.403	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			35	146	0	0	0	0.769981	0	35	146				
ANK3	288	broad.mit.edu	37	10	61874052	61874052	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr10:61874052A>G	ENST00000280772.2	-	26	3070	c.2879T>C	c.(2878-2880)cTt>cCt	p.L960P	ANK3_ENST00000355288.2_Missense_Mutation_p.L94P|ANK3_ENST00000503366.1_Missense_Mutation_p.L961P|ANK3_ENST00000373827.2_Missense_Mutation_p.L954P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	960					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTAATGTCTAAGAGAATCTGA	0.348																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(2878-2880)cTt>cCt		ankyrin 3, node of Ranvier (ankyrin G)							83.0	78.0	80.0					10																	61874052		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61874052A>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2879T>C	10.37:g.61874052A>G	ENSP00000280772:p.Leu960Pro		Somatic				ANK3_ENST00000373827.2_Missense_Mutation_p.L954P|ANK3_ENST00000503366.1_Missense_Mutation_p.L961P|ANK3_ENST00000355288.2_Missense_Mutation_p.L94P	p.L960P	NM_020987.3	NP_066267.2	WXS	Illumina GAIIx	Phase_I	Q12955	ANK3_HUMAN			26	3070	-			960					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.2879T>C	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.147326	0.57151	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348;ENST00000373815;ENST00000513049	T;T;T;T;T	0.68025	-0.25;-0.29;0.4;-0.3;0.83	5.48	5.48	0.80851	.	0.000000	0.35179	N	0.003385	T	0.79287	0.4420	M	0.72118	2.19	0.80722	D	1	P;D;P;P;D;D;D	0.71674	0.577;0.991;0.814;0.904;0.998;0.993;0.995	B;P;B;P;P;P;P	0.62014	0.141;0.83;0.265;0.514;0.897;0.863;0.795	T	0.81949	-0.0699	10	0.72032	D	0.01	.	15.5697	0.76323	1.0:0.0:0.0:0.0	.	961;94;482;954;960;195;94	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	P	960;954;94;94;961;940;195;595;595;93;482;85;85	ENSP00000280772:L960P;ENSP00000362933:L954P;ENSP00000347436:L94P;ENSP00000425236:L961P;ENSP00000362921:L85P	ENSP00000280772:L960P	L	-	2	0	ANK3	61544058	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.923000	0.92808	2.071000	0.62044	0.533000	0.62120	CTT		0.348	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		17	82	0	0	0	0.520397	0	17	82				
TDRD1	56165	broad.mit.edu	37	10	115973103	115973103	+	Splice_Site	SNP	A	A	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr10:115973103A>T	ENST00000369280.1	+	15	2291		c.e15-1		TDRD1_ENST00000251864.2_Splice_Site|TDRD1_ENST00000369282.1_Splice_Site|TDRD1_ENST00000369281.2_Splice_Site|TDRD1_ENST00000422662.1_Splice_Site			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1						DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ATTCTTTGTTAGGAGTAAAGC	0.333																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.e15-1		tudor domain containing 1							50.0	51.0	51.0					10																	115973103		2202	4300	6502	SO:0001630	splice_region_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115973103A>T	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1832-1A>T	10.37:g.115973103A>T			Somatic				TDRD1_ENST00000369280.1_Splice_Site|TDRD1_ENST00000369282.1_Splice_Site|TDRD1_ENST00000369281.2_Splice_Site|TDRD1_ENST00000422662.1_Splice_Site		NM_198795.1	NP_942090.1	WXS	Illumina GAIIx	Phase_I	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	15	1984	+		Colorectal(252;0.172)|Breast(234;0.188)						A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Splice_Site	SNP	ENST00000369280.1	37			.	.	.	.	.	.	.	.	.	.	A	18.27	3.587658	0.66105	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6573	0.68844	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TDRD1	115963093	1.000000	0.71417	0.926000	0.36857	0.749000	0.42624	7.100000	0.76989	2.187000	0.69744	0.523000	0.50628	.		0.333	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2		Intron	15	91	0	0	0	0.457914	0	15	91				
METAP2	10988	broad.mit.edu	37	12	95888731	95888731	+	Splice_Site	SNP	A	A	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr12:95888731A>T	ENST00000323666.5	+	6	819		c.e6-1		METAP2_ENST00000551840.1_Splice_Site|METAP2_ENST00000546753.1_Splice_Site|METAP2_ENST00000261220.9_Splice_Site|METAP2_ENST00000550777.1_Splice_Site	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						TTTTTGTTTTAGTGAAAAGTT	0.323																																						ENST00000323666.5																			0				endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						c.e6-1		methionyl aminopeptidase 2	L-Methionine(DB00134)						64.0	64.0	64.0					12																	95888731		2203	4300	6503	SO:0001630	splice_region_variant	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95888731A>T	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.591-1A>T	12.37:g.95888731A>T			Somatic				METAP2_ENST00000551840.1_Splice_Site|METAP2_ENST00000550777.1_Splice_Site|METAP2_ENST00000261220.9_Splice_Site|METAP2_ENST00000546753.1_Splice_Site		NM_006838.3	NP_006829.1	WXS	Illumina GAIIx	Phase_I	P50579	AMPM2_HUMAN			6	819	+									Splice_Site	SNP	ENST00000323666.5	37		CCDS9052.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002371	0.74932	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000553151;ENST00000550777;ENST00000551840;ENST00000549808	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6569	0.77144	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	METAP2	94412862	1.000000	0.71417	0.957000	0.39632	0.886000	0.51366	8.910000	0.92685	2.095000	0.63458	0.477000	0.44152	.		0.323	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838	Intron	25	72	0	0	0	0.639603	0	25	72				
MAPK7	5598	broad.mit.edu	37	17	19284327	19284327	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr17:19284327C>A	ENST00000308406.5	+	4	1191	c.805C>A	c.(805-807)Cac>Aac	p.H269N	MAPK7_ENST00000571657.1_Intron|MFAP4_ENST00000574313.2_5'Flank|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000395602.4_Missense_Mutation_p.H269N|B9D1_ENST00000477478.2_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.H269N|MAPK7_ENST00000299612.7_Missense_Mutation_p.H130N	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	269	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AAACTATGTACACCAGCTACA	0.562																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(805-807)Cac>Aac		mitogen-activated protein kinase 7							40.0	41.0	41.0					17																	19284327		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19284327C>A	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.805C>A	17.37:g.19284327C>A	ENSP00000311005:p.His269Asn		Somatic				MAPK7_ENST00000395602.4_Missense_Mutation_p.H269N|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Missense_Mutation_p.H130N|MAPK7_ENST00000395604.3_Missense_Mutation_p.H269N	p.H269N	NM_139033.2	NP_620602.2	WXS	Illumina GAIIx	Phase_I	Q13164	MK07_HUMAN			4	1191	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		269			Necessary for oligomerization (By similarity).|Protein kinase.		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.805C>A	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809447	0.50421	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	4.74	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61173	0.2326	N	0.05608	-0.01	0.53005	D	0.999962	D	0.69078	0.997	D	0.66979	0.948	T	0.69684	-0.5079	10	0.59425	D	0.04	-23.564	15.5975	0.76599	0.0:1.0:0.0:0.0	.	269	Q13164	MK07_HUMAN	N	269;130;269;269	ENSP00000311005:H269N;ENSP00000299612:H130N;ENSP00000378968:H269N;ENSP00000378966:H269N	ENSP00000299612:H130N	H	+	1	0	MAPK7	19224920	0.996000	0.38824	0.993000	0.49108	0.839000	0.47603	3.071000	0.50041	2.335000	0.79485	0.561000	0.74099	CAC		0.562	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		11	77	1	0	0.000978159	0.387290	0.00100665	11	77				
FAM120AOS	158293	broad.mit.edu	37	9	96212845	96212845	+	Silent	SNP	A	A	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr9:96212845A>G	ENST00000375412.5	-	2	1482	c.600T>C	c.(598-600)gcT>gcC	p.A200A	FAM120A_ENST00000340893.4_5'Flank|FAM120A_ENST00000333936.5_5'Flank|FAM120A_ENST00000375389.3_5'Flank|FAM120AOS_ENST00000423591.1_Silent_p.A18A|FAM120AOS_ENST00000479094.1_5'UTR|FAM120A_ENST00000277165.6_5'Flank	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	200										kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						GTCCGGCCACAGCCTGTCGGT	0.502																																						ENST00000375412.5																			0				kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(598-600)gcT>gcC		family with sequence similarity 120A opposite strand							52.0	57.0	56.0					9																	96212845		2203	4300	6503	SO:0001819	synonymous_variant	158293							g.chr9:96212845A>G	AK056096	CCDS6705.1	9q22.32	2008-02-05	2006-07-04	2006-07-04	ENSG00000188938	ENSG00000188938			23389	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 10 opposite strand"""	C9orf10OS		14585507	Standard	NM_198841		Approved		uc004atu.4	Q5T036	OTTHUMG00000020251	ENST00000375412.5:c.600T>C	9.37:g.96212845A>G			Somatic				FAM120AOS_ENST00000479094.1_5'UTR|FAM120AOS_ENST00000423591.1_Silent_p.A18A	p.A200A	NM_198841.2	NP_942138.2	WXS	Illumina GAIIx	Phase_I	Q5T036	F120S_HUMAN			2	1482	-			200					A6NN20	Silent	SNP	ENST00000375412.5	37	c.600T>C	CCDS6705.1																																																																																				0.502	FAM120AOS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053154.1			22	66	0	0	0	0.592651	0	22	66				
RRAGC	64121	broad.mit.edu	37	1	39321416	39321416	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:39321416T>C	ENST00000373001.3	-	3	781	c.605A>G	c.(604-606)gAc>gGc	p.D202G		NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				ATCTGCAAGGTCATCATTGGC	0.398																																						ENST00000373001.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10						c.(604-606)gAc>gGc		Ras-related GTP binding C							205.0	190.0	195.0					1																	39321416		2203	4300	6503	SO:0001583	missense	64121				apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity	g.chr1:39321416T>C	AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.605A>G	1.37:g.39321416T>C	ENSP00000362092:p.Asp202Gly		Somatic					p.D202G	NM_022157.2	NP_071440.1	WXS	Illumina GAIIx	Phase_I	Q9HB90	RRAGC_HUMAN			3	781	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	202						Missense_Mutation	SNP	ENST00000373001.3	37	c.605A>G	CCDS430.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.019065	0.75275	.	.	ENSG00000116954	ENST00000373001	D	0.82081	-1.57	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.81842	0.4908	L	0.56199	1.76	0.80722	D	1	B;B;B	0.28208	0.203;0.02;0.019	B;B;B	0.30572	0.117;0.071;0.048	T	0.80381	-0.1406	10	0.66056	D	0.02	-32.7509	16.4311	0.83844	0.0:0.0:0.0:1.0	.	168;136;202	E7ENI3;D3DPT8;Q9HB90	.;.;RRAGC_HUMAN	G	202	ENSP00000362092:D202G	ENSP00000362092:D202G	D	-	2	0	RRAGC	39094003	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.277000	0.76020	0.528000	0.53228	GAC		0.398	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	NM_022157		41	236	0	0	0	0.853193	0	41	236				
SP140	11262	broad.mit.edu	37	2	231150512	231150512	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr2:231150512C>T	ENST00000392045.3	+	17	1724	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	SP140_ENST00000420434.3_Missense_Mutation_p.A510V|SP140_ENST00000343805.6_Missense_Mutation_p.A477V|SP140_ENST00000486687.2_Missense_Mutation_p.A461V|SP140_ENST00000350136.5_Missense_Mutation_p.A406V|SP140_ENST00000417495.3_Missense_Mutation_p.A423V	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	537					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAAAGAAGGCGAACGTGAAT	0.448																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(1609-1611)gCg>gTg		SP140 nuclear body protein							161.0	161.0	161.0					2																	231150512		1867	4100	5967	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231150512C>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1610C>T	2.37:g.231150512C>T	ENSP00000375899:p.Ala537Val		Somatic				SP140_ENST00000420434.3_Missense_Mutation_p.A510V|SP140_ENST00000417495.3_Missense_Mutation_p.A423V|SP140_ENST00000486687.2_Missense_Mutation_p.A461V|SP140_ENST00000350136.5_Missense_Mutation_p.A406V|SP140_ENST00000343805.6_Missense_Mutation_p.A477V	p.A537V	NM_007237.4	NP_009168.4	WXS	Illumina GAIIx	Phase_I	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	17	1724	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	537					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.1610C>T	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.381932	0.01204	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.57752	0.54;0.75;0.65;0.38;0.64	1.58	0.336	0.15958	.	.	.	.	.	T	0.32585	0.0834	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.15719	0.009;0.003;0.014;0.0	B;B;B;B	0.10450	0.001;0.001;0.005;0.0	T	0.19257	-1.0311	9	0.20046	T	0.44	-1.5964	3.2177	0.06705	0.0:0.2801:0.0:0.7199	.	510;423;477;537	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	V	461;406;537;423;477;510	ENSP00000440107:A461V;ENSP00000345846:A406V;ENSP00000375899:A537V;ENSP00000342096:A477V;ENSP00000398210:A510V	ENSP00000342096:A477V	A	+	2	0	SP140	230858756	0.000000	0.05858	0.010000	0.14722	0.105000	0.19272	-1.820000	0.01714	0.093000	0.17368	0.306000	0.20318	GCG		0.448	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		33	167	0	0	0	0.769981	0	33	167				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln		Somatic				MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.H4205Q	NM_018406.6	NP_060876.5	WXS	Illumina GAIIx	Phase_I	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	4	0	0	0	0.115264	0	2	4				
GPR142	350383	broad.mit.edu	37	17	72368005	72368005	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr17:72368005G>A	ENST00000335666.4	+	4	703	c.655G>A	c.(655-657)Gga>Aga	p.G219R		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	219						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCTCCTGCAGGGAGCAGTGCT	0.632																																						ENST00000335666.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(655-657)Gga>Aga		G protein-coupled receptor 142							75.0	59.0	64.0					17																	72368005		2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368005G>A	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.655G>A	17.37:g.72368005G>A	ENSP00000335158:p.Gly219Arg		Somatic					p.G219R	NM_181790.1	NP_861455.1	WXS	Illumina GAIIx	Phase_I	Q7Z601	GP142_HUMAN			4	703	+			219					A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.655G>A	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989299	0.74589	.	.	ENSG00000257008	ENST00000335666	T	0.71817	-0.6	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.121437	0.56097	D	0.000023	T	0.74520	0.3727	L	0.36672	1.1	0.41702	D	0.989407	D;D	0.76494	0.999;0.998	D;D	0.73380	0.967;0.98	T	0.71009	-0.4716	10	0.30854	T	0.27	-16.8992	11.5207	0.50549	0.0853:0.0:0.9147:0.0	.	219;1181	Q7Z601;Q8NGB0	GP142_HUMAN;.	R	219	ENSP00000335158:G219R	ENSP00000335158:G219R	G	+	1	0	GPR142	69879600	1.000000	0.71417	0.992000	0.48379	0.922000	0.55478	4.201000	0.58439	2.708000	0.92522	0.650000	0.86243	GGA		0.632	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		11	38	0	0	0	0.411799	0	11	38				
DOK4	55715	broad.mit.edu	37	16	57508842	57508842	+	Silent	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr16:57508842C>T	ENST00000340099.4	-	6	833	c.462G>A	c.(460-462)gaG>gaA	p.E154E	DOK4_ENST00000566936.1_Silent_p.E154E|DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000569548.1_Silent_p.E154E	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	154	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GCAGCTTGCACTCGCCATACA	0.607																																						ENST00000566936.1																			0				kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						c.(460-462)gaG>gaA		docking protein 4							128.0	110.0	116.0					16																	57508842		2198	4300	6498	SO:0001819	synonymous_variant	55715						insulin receptor binding	g.chr16:57508842C>T	BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"""Pleckstrin homology (PH) domain containing"""	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.462G>A	16.37:g.57508842C>T			Somatic				DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000569548.1_Silent_p.E154E|DOK4_ENST00000340099.4_Silent_p.E154E	p.E154E			WXS	Illumina GAIIx	Phase_I	Q8TEW6	DOK4_HUMAN			5	759	-			154			IRS-type PTB.		O75209|Q9BTP2|Q9NVV3	Silent	SNP	ENST00000340099.4	37	c.462G>A	CCDS10783.1																																																																																				0.607	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3			10	54	0	0	0	0.361761	0	10	54				
CLASP1	23332	broad.mit.edu	37	2	122363357	122363357	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr2:122363357C>T	ENST00000263710.4	-	2	504	c.115G>A	c.(115-117)Gac>Aac	p.D39N	CLASP1_ENST00000397587.3_Missense_Mutation_p.D39N|CLASP1_ENST00000409078.3_Missense_Mutation_p.D39N|Y_RNA_ENST00000410535.1_RNA|CLASP1_ENST00000455322.2_Missense_Mutation_p.D39N|CLASP1_ENST00000541377.1_Missense_Mutation_p.D39N	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	39					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGCTCAAGGTCAGCAGACTTC	0.478																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(115-117)Gac>Aac		cytoplasmic linker associated protein 1							164.0	163.0	163.0					2																	122363357		2018	4181	6199	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122363357C>T	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.115G>A	2.37:g.122363357C>T	ENSP00000263710:p.Asp39Asn		Somatic				CLASP1_ENST00000455322.2_Missense_Mutation_p.D39N|CLASP1_ENST00000541377.1_Missense_Mutation_p.D39N|CLASP1_ENST00000409078.3_Missense_Mutation_p.D39N|CLASP1_ENST00000397587.3_Missense_Mutation_p.D39N	p.D39N	NM_015282.2	NP_056097.1	WXS	Illumina GAIIx	Phase_I	Q7Z460	CLAP1_HUMAN			2	504	-	Renal(3;0.0496)		39					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.115G>A		.	.	.	.	.	.	.	.	.	.	C	27.9	4.869865	0.91587	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000409078	T;T;T;T;T	0.68025	-0.3;2.25;2.25;2.25;2.25	4.96	4.96	0.65561	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76463	0.3991	M	0.80982	2.52	0.80722	D	1	P;P;P;P	0.52316	0.952;0.873;0.799;0.835	P;P;B;B	0.49477	0.612;0.517;0.318;0.394	T	0.80906	-0.1173	10	0.62326	D	0.03	-3.6912	18.3979	0.90505	0.0:1.0:0.0:0.0	.	39;39;39;39	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	N	39	ENSP00000263710:D39N;ENSP00000389372:D39N;ENSP00000380717:D39N;ENSP00000441625:D39N;ENSP00000386442:D39N	ENSP00000263710:D39N	D	-	1	0	CLASP1	122079827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.578000	0.87016	0.563000	0.77884	GAC		0.478	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		23	93	0	0	0	0.608945	0	23	93				
GOLGB1	2804	broad.mit.edu	37	3	121415891	121415891	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr3:121415891C>T	ENST00000340645.5	-	13	3589	c.3464G>A	c.(3463-3465)aGt>aAt	p.S1155N	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S1160N	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1155					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCAGTGTTCACTACTACCTGT	0.438																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(3478-3480)aGt>aAt		golgin B1							139.0	132.0	135.0					3																	121415891		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121415891C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3464G>A	3.37:g.121415891C>T	ENSP00000341848:p.Ser1155Asn		Somatic				GOLGB1_ENST00000340645.5_Missense_Mutation_p.S1155N	p.S1160N	NM_001256486.1	NP_001243415.1	WXS	Illumina GAIIx	Phase_I	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	3589	-			1155					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.3479G>A	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.974|0.974	-0.699081|-0.699081	0.03279|0.03279	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.22743|.	2.52;2.52;1.94|.	5.9|5.9	1.99|1.99	0.26369|0.26369	.|.	0.312106|.	0.27664|.	N|.	0.018368|.	T|T	0.15089|0.15089	0.0364|0.0364	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.16802|.	0.0;0.0;0.019;0.0;0.0|.	B;B;B;B;B|.	0.20767|.	0.001;0.001;0.031;0.001;0.001|.	T|T	0.24368|0.24368	-1.0162|-1.0162	10|5	0.16896|.	T|.	0.51|.	.|.	3.1835|3.1835	0.06593|0.06593	0.1417:0.5678:0.1371:0.1534|0.1417:0.5678:0.1371:0.1534	.|.	1080;1119;1160;1160;1155|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	N|M	1155;1160;1119;967|1026	ENSP00000341848:S1155N;ENSP00000377275:S1160N;ENSP00000418231:S1119N|.	ENSP00000341848:S1155N|.	S|V	-|-	2|1	0|0	GOLGB1|GOLGB1	122898581|122898581	0.012000|0.012000	0.17670|0.17670	0.321000|0.321000	0.25320|0.25320	0.165000|0.165000	0.22458|0.22458	0.683000|0.683000	0.25349|0.25349	0.072000|0.072000	0.16694|0.16694	0.650000|0.650000	0.86243|0.86243	AGT|GTG		0.438	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		71	265	0	0	0	0.870114	0	71	265				
DPEP3	64180	broad.mit.edu	37	16	68009728	68009728	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr16:68009728G>T	ENST00000268793.4	-	10	1855	c.1482C>A	c.(1480-1482)taC>taA	p.Y494*	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	469					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CTGGAACAAGGTATGGGGAGG	0.602																																						ENST00000268793.4																			0				breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20						c.(1480-1482)taC>taA		dipeptidase 3							90.0	86.0	87.0					16																	68009728		2198	4300	6498	SO:0001587	stop_gained	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68009728G>T	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1482C>A	16.37:g.68009728G>T	ENSP00000268793:p.Tyr494*		Somatic					p.Y494*	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	WXS	Illumina GAIIx	Phase_I	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	10	1855	-		Ovarian(137;0.192)	469					B3KQ48|Q6PEZ5|Q6UXE4	Nonsense_Mutation	SNP	ENST00000268793.4	37	c.1482C>A	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	G	35	5.523172	0.96431	.	.	ENSG00000141096	ENST00000268793	.	.	.	3.8	-0.758	0.11049	.	2.808830	0.00710	N	0.000823	.	.	.	.	.	.	0.39909	D	0.974008	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.392	0.5383	0.00640	0.2532:0.1913:0.36:0.1954	.	.	.	.	X	494	.	ENSP00000268793:Y494X	Y	-	3	2	DPEP3	66567229	0.000000	0.05858	0.000000	0.03702	0.478000	0.33099	-0.369000	0.07533	-0.083000	0.12618	0.655000	0.94253	TAC		0.602	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		5	36	1	0	8.12818e-05	0.248553	8.61588e-05	5	36				
PPBP	5473	broad.mit.edu	37	4	74853010	74853010	+	Silent	SNP	T	T	C			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr4:74853010T>C	ENST00000296028.3	-	3	459	c.366A>G	c.(364-366)gcA>gcG	p.A122A		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	122					blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|defense response to bacterium (GO:0042742)|glucose transport (GO:0015758)|immune response (GO:0006955)|leukocyte migration involved in inflammatory response (GO:0002523)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell division (GO:0051781)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	glucose transmembrane transporter activity (GO:0005355)			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			ATTCATCACCTGCCAATTTTT	0.408																																						ENST00000296028.3																			0				breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10						c.(364-366)gcA>gcG		pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)							107.0	110.0	109.0					4																	74853010		2203	4300	6503	SO:0001819	synonymous_variant	5473				chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity	g.chr4:74853010T>C	M54995	CCDS3563.1	4q12-q13	2013-02-25	2002-08-22		ENSG00000163736	ENSG00000163736		"""Endogenous ligands"""	9240	protein-coding gene	gene with protein product	"""platelet basic protein"", ""beta-thromboglobulin"", ""connective tissue-activating peptide III"", ""neutrophil-activating peptide-2"""	121010		THBGB1		1826003	Standard	NM_002704		Approved	SCYB7, TGB, NAP-2-L1, LA-PF4, MDGF, LDGF, Beta-TG, CTAP3, CXCL7, PBP, b-TG1, TGB1, CTAPIII, NAP-2	uc003hhj.3	P02775	OTTHUMG00000130008	ENST00000296028.3:c.366A>G	4.37:g.74853010T>C			Somatic					p.A122A	NM_002704.3	NP_002695.1	WXS	Illumina GAIIx	Phase_I	P02775	CXCL7_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		3	459	-	Breast(15;0.00136)		122					B2R5F3|Q6IBJ8	Silent	SNP	ENST00000296028.3	37	c.366A>G	CCDS3563.1																																																																																				0.408	PPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252281.2	NM_002704		3	142	0	0	0	0.150653	0	3	142				
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	byFrequency	TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr17:45128742T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TAATGATTTTTATTATACTTT	0.328													g|||	2160	0.43131	0.3593	0.4986	5008	,	,		16551	0.3482		0.4861	False		,,,				2504	0.5102					ENST00000575173.1																			0																																																			101927060							g.chr17:45128742T>G																													17.37:g.45128742T>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.328	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	135	0	0	0	0.150653	0	4	135				
VWC2	375567	broad.mit.edu	37	7	49842426	49842426	+	Silent	SNP	C	C	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr7:49842426C>A	ENST00000340652.4	+	3	1372	c.816C>A	c.(814-816)atC>atA	p.I272I		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	272	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GCTGTCCCATCTGCAAAAATG	0.572																																						ENST00000340652.3																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						c.(814-816)atC>atA		von Willebrand factor C domain containing 2							234.0	153.0	181.0					7																	49842426		2203	4300	6503	SO:0001819	synonymous_variant	375567				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		g.chr7:49842426C>A	AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"""brorin"", ""brain-specific chordin-like"""	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.816C>A	7.37:g.49842426C>A			Somatic					p.I272I	NM_198570.3	NP_940972.2	WXS	Illumina GAIIx	Phase_I	Q2TAL6	VWC2_HUMAN			3	1372	+			272			VWFC 2.		Q6UXE2	Silent	SNP	ENST00000340652.4	37	c.816C>A	CCDS5508.1																																																																																				0.572	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	NM_198570		13	59	1	0	1.5842e-08	0.435327	1.78644e-08	13	59				
REV3L	5980	broad.mit.edu	37	6	111709251	111709251	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr6:111709251T>A	ENST00000358835.3	-	9	1354	c.900A>T	c.(898-900)aaA>aaT	p.K300N	REV3L_ENST00000435970.1_Missense_Mutation_p.K222N|REV3L_ENST00000368805.1_Missense_Mutation_p.K300N|REV3L_ENST00000368802.3_Missense_Mutation_p.K300N			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	300					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTTCTGAAATTTTTTTTCAC	0.284								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(664-666)aaA>aaT	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							52.0	55.0	54.0					6																	111709251		2202	4297	6499	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111709251T>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.900A>T	6.37:g.111709251T>A	ENSP00000351697:p.Lys300Asn		Somatic				REV3L_ENST00000358835.3_Missense_Mutation_p.K300N|REV3L_ENST00000368805.1_Missense_Mutation_p.K300N|REV3L_ENST00000368802.3_Missense_Mutation_p.K300N	p.K222N			WXS	Illumina GAIIx	Phase_I	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	10	1482	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	300					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.666A>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	6.315	0.426150	0.11987	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.35	-4.39	0.03611	Ribonuclease H-like (1);	0.711693	0.13104	N	0.413534	T	0.03178	0.0093	N	0.08118	0	0.23478	N	0.997599	B	0.02656	0.0	B	0.01281	0.0	T	0.39292	-0.9621	10	0.26408	T	0.33	.	3.1761	0.06569	0.4939:0.0735:0.2743:0.1583	.	300	O60673	DPOLZ_HUMAN	N	300;300;300;222	ENSP00000357792:K300N;ENSP00000357795:K300N;ENSP00000351697:K300N;ENSP00000402003:K222N	ENSP00000351697:K300N	K	-	3	2	REV3L	111815944	0.802000	0.28943	0.987000	0.45799	0.074000	0.17049	-0.082000	0.11304	-0.290000	0.09025	-0.468000	0.05107	AAA		0.284	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		30	125	0	0	0	0.750413	0	30	125				
MUC2	4583	broad.mit.edu	37	11	1080916	1080916	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr11:1080916C>T	ENST00000441003.2	+	10	1327	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S	MUC2_ENST00000359061.5_Missense_Mutation_p.P434S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	434	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGAGCTGGCCCCCTGTGGCTC	0.637																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(1300-1302)Ccc>Tcc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						63.0	71.0	68.0					11																	1080916		2089	4206	6295	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1080916C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1300C>T	11.37:g.1080916C>T	ENSP00000415183:p.Pro434Ser		Somatic				MUC2_ENST00000359061.5_Missense_Mutation_p.P434S	p.P434S	NM_002457.2	NP_002448.2	WXS	Illumina GAIIx	Phase_I	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	10	1327	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	434			VWFD 2.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.1300C>T		.	.	.	.	.	.	.	.	.	.	C	10.08	1.251877	0.22880	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.58506	0.33;0.33	3.57	0.294	0.15747	.	1.618190	0.05608	N	0.577606	T	0.60971	0.2310	M	0.73319	2.225	0.22954	N	0.99852	B	0.33549	0.417	B	0.42062	0.374	T	0.50947	-0.8767	10	0.24483	T	0.36	.	8.0586	0.30619	0.0:0.611:0.3019:0.0871	.	434	E7EUV1	.	S	434	ENSP00000415183:P434S;ENSP00000351956:P434S	ENSP00000351956:P434S	P	+	1	0	MUC2	1070916	0.000000	0.05858	0.995000	0.50966	0.223000	0.24884	0.319000	0.19522	0.223000	0.20920	0.436000	0.28706	CCC		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		9	54	0	0	0	0.387290	0	9	54				
SPTBN1	6711	broad.mit.edu	37	2	54880792	54880792	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr2:54880792C>T	ENST00000356805.4	+	27	5905	c.5624C>T	c.(5623-5625)gCg>gTg	p.A1875V	SPTBN1_ENST00000333896.5_Missense_Mutation_p.A1862V	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1875	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCGGCCTATGCGGGTGACAAG	0.657																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(5584-5586)gCg>gTg		spectrin, beta, non-erythrocytic 1							37.0	41.0	39.0					2																	54880792		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54880792C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5624C>T	2.37:g.54880792C>T	ENSP00000349259:p.Ala1875Val		Somatic				SPTBN1_ENST00000356805.4_Missense_Mutation_p.A1875V	p.A1862V	NM_178313.2	NP_842565.2	WXS	Illumina GAIIx	Phase_I	Q01082	SPTB2_HUMAN	Lung(47;0.24)		26	5970	+			1875			Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.5585C>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	36	5.695934	0.96802	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.35048	1.33;1.33	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.76071	0.945;0.876;0.987	T	0.69702	-0.5074	10	0.87932	D	0	.	19.8715	0.96852	0.0:1.0:0.0:0.0	.	1875;1862;1875	Q01082-2;Q01082-3;Q01082	.;.;SPTB2_HUMAN	V	1875;1862	ENSP00000349259:A1875V;ENSP00000334156:A1862V	ENSP00000334156:A1862V	A	+	2	0	SPTBN1	54734296	1.000000	0.71417	0.412000	0.26496	0.956000	0.61745	7.696000	0.84270	2.714000	0.92807	0.655000	0.94253	GCG		0.657	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			4	78	0	0	0	0.150653	0	4	78				
LRMP	4033	broad.mit.edu	37	12	25232608	25232608	+	Missense_Mutation	SNP	T	T	A	rs147316104	byFrequency	TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr12:25232608T>A	ENST00000354454.3	+	8	984	c.155T>A	c.(154-156)cTg>cAg	p.L52Q	LRMP_ENST00000547044.1_Missense_Mutation_p.L52Q|LRMP_ENST00000548766.1_Missense_Mutation_p.L52Q	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	108					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TTAGAAATTCTGAATATGGCT	0.378																																						ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(154-156)cTg>cAg		lymphoid-restricted membrane protein							111.0	111.0	111.0					12																	25232608		2203	4300	6503	SO:0001583	missense	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25232608T>A		CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.155T>A	12.37:g.25232608T>A	ENSP00000346442:p.Leu52Gln		Somatic				LRMP_ENST00000547044.1_Missense_Mutation_p.L52Q|LRMP_ENST00000548766.1_Missense_Mutation_p.L52Q	p.L52Q	NM_006152.3	NP_006143.2	WXS	Illumina GAIIx	Phase_I	Q12912	LRMP_HUMAN			8	984	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		108					A0AVM2|B4E077|Q8N301	Missense_Mutation	SNP	ENST00000354454.3	37	c.155T>A	CCDS8701.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.408277	0.42715	.	.	ENSG00000118308	ENST00000550945;ENST00000557489;ENST00000354454;ENST00000548766;ENST00000554942;ENST00000547044	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	4.61	4.61	0.57282	.	0.184560	0.26780	N	0.022530	T	0.49236	0.1545	M	0.63428	1.95	0.35842	D	0.826135	D	0.69078	0.997	D	0.71184	0.972	T	0.61579	-0.7034	10	0.87932	D	0	-6.0553	10.5719	0.45204	0.0:0.0:0.0:1.0	.	108	Q12912	LRMP_HUMAN	Q	52	ENSP00000448534:L52Q;ENSP00000452116:L52Q;ENSP00000346442:L52Q;ENSP00000446496:L52Q;ENSP00000450634:L52Q;ENSP00000450246:L52Q	ENSP00000346442:L52Q	L	+	2	0	LRMP	25123875	1.000000	0.71417	0.985000	0.45067	0.078000	0.17371	3.418000	0.52721	2.068000	0.61886	0.528000	0.53228	CTG		0.378	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	NM_006152		21	109	0	0	0	0.729181	0	21	109				
ANKRD11	29123	broad.mit.edu	37	16	89348224	89348224	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr16:89348224C>T	ENST00000301030.4	-	9	5186	c.4726G>A	c.(4726-4728)Ggc>Agc	p.G1576S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.G1576S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1576	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ATCAGGTCGCCGTCCCCCAGG	0.587																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(4726-4728)Ggc>Agc		ankyrin repeat domain 11							68.0	60.0	63.0					16																	89348224		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89348224C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4726G>A	16.37:g.89348224C>T	ENSP00000301030:p.Gly1576Ser		Somatic				ANKRD11_ENST00000378330.2_Missense_Mutation_p.G1576S	p.G1576S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	WXS	Illumina GAIIx	Phase_I	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	5186	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1576			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.4726G>A	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426168	0.83667	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.42513	0.97;0.97	5.08	5.08	0.68730	.	0.136032	0.49305	D	0.000142	T	0.39172	0.1068	N	0.14661	0.345	0.80722	D	1	D	0.63046	0.992	P	0.50617	0.646	T	0.43212	-0.9405	10	0.59425	D	0.04	.	18.0532	0.89356	0.0:1.0:0.0:0.0	.	1576	Q6UB99	ANR11_HUMAN	S	1576	ENSP00000301030:G1576S;ENSP00000367581:G1576S	ENSP00000301030:G1576S	G	-	1	0	ANKRD11	87875725	1.000000	0.71417	0.902000	0.35471	0.821000	0.46438	7.239000	0.78182	2.353000	0.79882	0.462000	0.41574	GGC		0.587	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		13	63	0	0	0	0.411799	0	13	63				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu		Somatic					p.K507E	NM_001137671.1	NP_001131143.1	WXS	Illumina GAIIx	Phase_I	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	135	0	0	0	0.115264	0	3	135				
PGR	5241	broad.mit.edu	37	11	100909954	100909954	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr11:100909954G>A	ENST00000325455.5	-	8	4148	c.2695C>T	c.(2695-2697)Cgg>Tgg	p.R899W	PGR_ENST00000534013.1_Missense_Mutation_p.R305W|PGR_ENST00000263463.5_Missense_Mutation_p.R797W	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	899	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CTCAGTGCCCGGGACTGGATA	0.358																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(2695-2697)Cgg>Tgg		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						89.0	88.0	89.0					11																	100909954		2203	4299	6502	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100909954G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2695C>T	11.37:g.100909954G>A	ENSP00000325120:p.Arg899Trp		Somatic				PGR_ENST00000263463.5_Missense_Mutation_p.R797W|PGR_ENST00000534013.1_Missense_Mutation_p.R305W	p.R899W	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	WXS	Illumina GAIIx	Phase_I	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	8	4148	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	899			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.2695C>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868455	0.51588	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463	T;T;D	0.99766	1.27;1.27;-6.69	5.74	4.83	0.62350	Nuclear hormone receptor, ligand-binding (2);	0.200260	0.43416	N	0.000578	D	0.97739	0.9258	N	0.10874	0.06	0.41505	D	0.988303	P;B;B	0.42908	0.793;0.333;0.062	B;B;B	0.25506	0.061;0.031;0.01	D	0.98567	1.0644	10	0.87932	D	0	.	14.7908	0.69841	0.0691:0.0:0.9309:0.0	.	797;899;280	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	W	899;305;797	ENSP00000325120:R899W;ENSP00000436561:R305W;ENSP00000263463:R797W	ENSP00000263463:R797W	R	-	1	2	PGR	100415164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.646000	0.67916	1.435000	0.47434	0.585000	0.79938	CGG		0.358	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			22	94	0	0	0	0.592651	0	22	94				
UROD	7389	broad.mit.edu	37	1	45480162	45480162	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:45480162A>G	ENST00000246337.4	+	7	807	c.688A>G	c.(688-690)Aac>Gac	p.N230D	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	230					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					ACAGCTCTTCAACAAGTTTGC	0.517									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000246337.4																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(688-690)Aac>Gac		uroporphyrinogen decarboxylase							88.0	82.0	84.0					1																	45480162		2203	4300	6503	SO:0001583	missense	7389	Porphyria Cutanea Tarda, Type II	Familial Cancer Database	PCT-II		cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity	g.chr1:45480162A>G	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.688A>G	1.37:g.45480162A>G	ENSP00000246337:p.Asn230Asp		Somatic	OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	UROD_ENST00000494399.1_3'UTR	p.N230D	NM_000374.4	NP_000365.3	WXS	Illumina GAIIx	Phase_I	P06132	DCUP_HUMAN			7	807	+	Acute lymphoblastic leukemia(166;0.155)		230					A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Missense_Mutation	SNP	ENST00000246337.4	37	c.688A>G	CCDS518.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.246|0.246	-1.010279|-1.010279	0.02095|0.02095	.|.	.|.	ENSG00000126088|ENSG00000126088	ENST00000246337;ENST00000372139|ENST00000428106	D|.	0.93811|.	-3.29|.	5.16|5.16	3.97|3.97	0.46021|0.46021	Uroporphyrinogen decarboxylase (URO-D) (1);|.	1.210290|.	0.05290|.	N|.	0.521009|.	T|T	0.09862|0.09862	0.0242|0.0242	N|N	0.01800|0.01800	-0.715|-0.715	0.21220|0.21220	N|N	0.999759|0.999759	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.17776|0.17776	-1.0358|-1.0358	10|5	0.48119|.	T|.	0.1|.	-13.959|-13.959	5.0277|5.0277	0.14393|0.14393	0.5257:0.1478:0.0:0.3265|0.5257:0.1478:0.0:0.3265	.|.	230|.	P06132|.	DCUP_HUMAN|.	D|R	230;169|169	ENSP00000246337:N230D|.	ENSP00000246337:N230D|.	N|Q	+|+	1|2	0|0	UROD|UROD	45252749|45252749	0.087000|0.087000	0.21565|0.21565	0.925000|0.925000	0.36789|0.36789	0.651000|0.651000	0.38670|0.38670	0.958000|0.958000	0.29227|0.29227	2.160000|2.160000	0.67779|0.67779	0.533000|0.533000	0.62120|0.62120	AAC|CAA		0.517	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024803.1	NM_000374		36	115	0	0	0	0.779181	0	36	115				
SPATA45	149643	broad.mit.edu	37	1	213009452	213009453	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr1:213009452_213009453insT	ENST00000332912.3	-	2	146_147	c.39_40insA	c.(37-42)aaacatfs	p.H14fs		NM_001024601.2	NP_001019772.1	Q537H7	SPT45_HUMAN		14										kidney(1)|large_intestine(1)|lung(1)	3						CTTACTCCATGTTTTTTCATTA	0.366																																						ENST00000332912.3																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(37-42)aaatggfs		chromosome 1 open reading frame 227																																				SO:0001589	frameshift_variant	149643							g.chr1:213009452_213009453insT																												ENST00000332912.3:c.40dupA	1.37:g.213009458_213009458dupT	ENSP00000419160:p.His14fs		Somatic					p.W14fs	NM_001024601.2	NP_001019772.1	WXS	Illumina GAIIx	Phase_I	Q537H7	CA227_HUMAN			2	146_147	-			14						Frame_Shift_Ins	INS	ENST00000332912.3	37	c.39_40insA	CCDS31020.1																																																																																				0.366	C1orf227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089672.2			44	225						44	225	---	---	---	---
RGPD3	653489	broad.mit.edu	37	2	107041102	107041102	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr2:107041102delT	ENST00000409886.3	-	20	3408	c.3321delA	c.(3319-3321)aaafs	p.K1107fs	RGPD3_ENST00000304514.7_Frame_Shift_Del_p.K1107fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1107	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TAGCACACACTTTTAGTACTT	0.423																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(3319-3321)aafs		RANBP2-like and GRIP domain containing 3							18.0	14.0	15.0					2																	107041102		692	1589	2281	SO:0001589	frameshift_variant	653489				intracellular transport		binding	g.chr2:107041102delT		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3321delA	2.37:g.107041102delT	ENSP00000386588:p.Lys1107fs		Somatic				RGPD3_ENST00000304514.7_Frame_Shift_Del_p.K1107fs	p.K1107fs	NM_001144013.1	NP_001137485.1	WXS	Illumina GAIIx	Phase_I	A6NKT7	RGPD3_HUMAN			20	3408	-			1107			RanBD1 1.		B8ZZM4	Frame_Shift_Del	DEL	ENST00000409886.3	37	c.3321delA	CCDS46379.1																																																																																				0.423	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		9	716						9	716	---	---	---	---
BAP1	8314	broad.mit.edu	37	3	52439196	52439196	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr3:52439196delT	ENST00000460680.1	-	11	1517	c.1046delA	c.(1045-1047)aacfs	p.N349fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.N331fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V335fs*10(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GGGAGTGGGGTTGGGGTGAAC	0.592			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1				Rec	yes		3	3p21.31-p21.2	8314	"""N, Mis, F, S, O"""	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E		"""mesothelioma, uveal melanoma"""	"""uveal melanoma, breast, NSCLC, RCC"""		1	Deletion - Frameshift(1)	p.V335fs*10(1)	skin(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1045-1047)acfs		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)							101.0	109.0	106.0					3																	52439196		2203	4300	6503	SO:0001589	frameshift_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52439196delT	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1046delA	3.37:g.52439196delT	ENSP00000417132:p.Asn349fs		Somatic				BAP1_ENST00000296288.5_Frame_Shift_Del_p.N331fs	p.N349fs	NM_004656.2	NP_004647.1	WXS	Illumina GAIIx	Phase_I	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	11	1517	-			349					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	c.1046delA	CCDS2853.1																																																																																				0.592	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			41	143						41	143	---	---	---	---
ZBTB11	27107	broad.mit.edu	37	3	101378845	101378846	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr3:101378845_101378846delCA	ENST00000312938.4	-	6	2407_2408	c.1827_1828delTG	c.(1825-1830)agtgccfs	p.A610fs	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	610					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(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CGCAAAGAGGCACTGTACTGAA	0.361																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1825-1830)agccfs		zinc finger and BTB domain containing 11																																				SO:0001589	frameshift_variant	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101378845_101378846delCA	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1827_1828delTG	3.37:g.101378845_101378846delCA	ENSP00000326200:p.Ala610fs		Somatic					p.SA609fs	NM_014415.3	NP_055230.2	WXS	Illumina GAIIx	Phase_I	O95625	ZBT11_HUMAN			6	2407_2408	-			609					Q2NKP9	Frame_Shift_Del	DEL	ENST00000312938.4	37	c.1827_1828delTG	CCDS2943.1																																																																																				0.361	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		20	127						20	127	---	---	---	---
KLHL24	54800	broad.mit.edu	37	3	183381405	183381407	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr3:183381405_183381407delTCT	ENST00000454652.2	+	5	1466_1468	c.1080_1082delTCT	c.(1078-1083)gctcta>gca	p.L361del	KLHL24_ENST00000476808.1_In_Frame_Del_p.L361del|KLHL24_ENST00000242810.6_In_Frame_Del_p.L361del	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	361						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CAGTCTGTGCTCTAAGGAATGAC	0.35																																						ENST00000454652.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1078-1083)gca>gc		kelch-like family member 24																																				SO:0001651	inframe_deletion	54800					axon|cytoplasm|perikaryon		g.chr3:183381405_183381407delTCT		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1080_1082delTCT	3.37:g.183381405_183381407delTCT	ENSP00000395012:p.Leu361del		Somatic				KLHL24_ENST00000476808.1_In_Frame_Del_p.AL360del|KLHL24_ENST00000242810.6_In_Frame_Del_p.AL360del	p.AL360del			WXS	Illumina GAIIx	Phase_I	Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		5	1466_1468	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		360					A5PLN8|Q9H620|Q9NXT9	In_Frame_Del	DEL	ENST00000454652.2	37	c.1080_1082delTCT	CCDS3246.1																																																																																				0.350	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		31	106						31	106	---	---	---	---
CXXC4	80319	broad.mit.edu	37	4	105412438	105412439	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr4:105412438_105412439insTT	ENST00000426831.1	-	1	28_29	c.14_15insAA	c.(13-15)aacfs	p.N5fs	CXXC4_ENST00000394767.2_Frame_Shift_Ins_p.N174fs|AC093628.1_ENST00000606234.1_RNA|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	5					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TCTGGGAGTCGTTTCGGTGGTG	0.673																																						ENST00000394767.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(520-522)agafs		CXXC finger protein 4																																				SO:0001589	frameshift_variant	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412438_105412439insTT		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.13_14dupAA	4.37:g.105412439_105412440dupTT	ENSP00000412267:p.Asn5fs		Somatic				CXXC4_ENST00000426831.1_Frame_Shift_Ins_p.R5fs|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA	p.R174fs	NM_025212.2	NP_079488.2	WXS	Illumina GAIIx	Phase_I	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	971_972	-			5						Frame_Shift_Ins	INS	ENST00000426831.1	37	c.521_522insAA																																																																																					0.673	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		22	114						22	114	---	---	---	---
SLC6A19	340024	broad.mit.edu	37	5	1214127	1214129	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr5:1214127_1214129delCTT	ENST00000304460.10	+	6	890_892	c.834_836delCTT	c.(832-837)tccttc>tcc	p.F279del		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	279					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCTTCTTCTCCTTCTCCCTGGCC	0.64																																						ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(832-837)tcc>tc		solute carrier family 6 (neutral amino acid transporter), member 19																																				SO:0001651	inframe_deletion	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1214127_1214129delCTT	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.834_836delCTT	5.37:g.1214127_1214129delCTT	ENSP00000305302:p.Phe279del		Somatic					p.SF278del	NM_001003841.2	NP_001003841.1	WXS	Illumina GAIIx	Phase_I	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		6	890_892	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		278					A8K446	In_Frame_Del	DEL	ENST00000304460.10	37	c.834_836delCTT	CCDS34130.1																																																																																				0.640	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		23	149						23	149	---	---	---	---
BSNDP4	106481726	broad.mit.edu	37	7	57698565	57698566	+	RNA	INS	-	-	TGGG	rs367832782		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr7:57698565_57698566insTGGG	ENST00000605139.1	-	0	416																											CACAGGAGACCTGGGCTGCAGG	0.584																																						ENST00000605139.1																			0																																																			0							g.chr7:57698565_57698566insTGGG																													7.37:g.57698566_57698569dupTGGG			Somatic								WXS	Illumina GAIIx	Phase_I					0	416	-									RNA	INS	ENST00000605139.1	37																																																																																						0.584	RP11-368M16.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000468775.1			3	4						3	4	---	---	---	---
LOC403323	403323	broad.mit.edu	37	9	66545695	66545695	+	lincRNA	DEL	A	A	-	rs368616794|rs199855162|rs56683069		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr9:66545695delA	ENST00000445604.2	-	0	669																											CTGTAAGAGGAAAAAAAAACA	0.373																																						ENST00000445604.2																			0																																																			403323							g.chr9:66545695delA																													9.37:g.66545695delA			Somatic								WXS	Illumina GAIIx	Phase_I					0	669	-									RNA	DEL	ENST00000445604.2	37																																																																																						0.373	RP11-262H14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037074.2			4	8						4	8	---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17474797	17474797	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr11:17474797delG	ENST00000389817.3	-	7	1113	c.1045delC	c.(1045-1047)caafs	p.Q349fs	ABCC8_ENST00000302539.4_Frame_Shift_Del_p.Q349fs			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	349	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AGGAACTCTTGGGATGAGACA	0.468																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1045-1047)aafs		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						141.0	129.0	133.0					11																	17474797		2200	4293	6493	SO:0001589	frameshift_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17474797delG	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1045delC	11.37:g.17474797delG	ENSP00000374467:p.Gln349fs		Somatic				ABCC8_ENST00000389817.3_Frame_Shift_Del_p.Q349fs	p.Q349fs	NM_000352.3	NP_000343.2	WXS	Illumina GAIIx	Phase_I	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	7	1170	-			349			ABC transmembrane type-1 1.		A6NMX8|E3UYX6|O75948|Q16583	Frame_Shift_Del	DEL	ENST00000389817.3	37	c.1045delC	CCDS31437.1																																																																																				0.468	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		24	100						24	100	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2706417	2706417	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr12:2706417delG	ENST00000347598.4	+	21	2815	c.2815delG	c.(2815-2817)gttfs	p.V939fs	CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399603.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000344100.3_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399595.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399649.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399638.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399597.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399634.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399617.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399621.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399606.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000406454.3_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000402845.3_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000335762.5_Frame_Shift_Del_p.V964fs|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399655.1_Frame_Shift_Del_p.V939fs	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	939					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTTGATATTGTTTTTACCAC	0.493																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(2815-2817)ttfs		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						182.0	185.0	184.0					12																	2706417		1873	4103	5976	SO:0001589	frameshift_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2706417delG	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2815delG	12.37:g.2706417delG	ENSP00000266376:p.Val939fs		Somatic				CACNA1C_ENST00000399597.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000344100.3_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399649.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399617.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399634.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000406454.3_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399595.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399603.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000402845.3_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000335762.5_Frame_Shift_Del_p.V964fs|CACNA1C_ENST00000399606.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399621.1_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000347598.4_Frame_Shift_Del_p.V939fs|CACNA1C_ENST00000399638.1_Frame_Shift_Del_p.V939fs	p.V939fs	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	WXS	Illumina GAIIx	Phase_I	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	21	3080	+			939					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Frame_Shift_Del	DEL	ENST00000347598.4	37	c.2815delG	CCDS44788.1																																																																																				0.493	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		31	208						31	208	---	---	---	---
LINC00987	100499405	broad.mit.edu	37	12	9392739	9392740	+	lincRNA	INS	-	-	TCTTCCTCCTCC	rs71045240|rs71265059		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr12:9392739_9392740insTCTTCCTCCTCC	ENST00000427111.3	+	0	141_142					NR_036466.1				long intergenic non-protein coding RNA 987																		caccatcaccttcttcctcccc	0.545														354	0.0706869	0.0272	0.1455	5008	,	,		14189	0.0813		0.0706	False		,,,				2504	0.0654					ENST00000427111.3																			0																																																			100499405							g.chr12:9392739_9392740insTCTTCCTCCTCC	AK126248		12p13.31	2013-07-04			ENSG00000237248	ENSG00000237248		"""Long non-coding RNAs"""	48911	non-coding RNA	RNA, long non-coding							Standard	NR_036466		Approved				OTTHUMG00000168332		12.37:g.9392739_9392740insTCTTCCTCCTCC			Somatic						NR_036466.1		WXS	Illumina GAIIx	Phase_I					0	141_142	+									RNA	INS	ENST00000427111.3	37																																																																																						0.545	LINC00987-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000399347.1			5	3						5	3	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25417973	25417973	+	RNA	DEL	C	C	-			TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr15:25417973delC	ENST00000441592.2	+	0	0				SNORD115-1_ENST00000364961.1_RNA|SNORD115-2_ENST00000362842.1_RNA|SNHG14_ENST00000553149.1_RNA|SNORD115-3_ENST00000363100.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		ATCCCTGTCTCTGCACTTGTC	0.602																																						ENST00000549301.1																			0																																																			104472715							g.chr15:25417973delC			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25417973delC			Somatic				SNHG14_ENST00000553149.1_RNA				WXS	Illumina GAIIx	Phase_I					0	503	+									RNA	DEL	ENST00000441592.2	37																																																																																						0.602	SNHG14-009	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126736.3			8	49						8	49	---	---	---	---
RP4-734C18.1	0	broad.mit.edu	37	20	11256440	11256441	+	lincRNA	INS	-	-	CTTTCTTG	rs201780436		TCGA-CJ-4869-01A-02D-1429-08	TCGA-CJ-4869-11A-01D-1429-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d9e0a3-a4c7-4ee3-a8a9-cea569ebb219	1dc07306-c09f-4d8e-884c-d016908fd841	g.chr20:11256440_11256441insCTTTCTTG	ENST00000444792.1	-	0	303																											tccctcccttcctttctttctt	0.475																																						ENST00000444792.1																			0																																																			0							g.chr20:11256440_11256441insCTTTCTTG																													20.37:g.11256440_11256441insCTTTCTTG			Somatic								WXS	Illumina GAIIx	Phase_I					0	303	-									RNA	INS	ENST00000444792.1	37																																																																																						0.475	RP4-734C18.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078015.1			3	6						3	6	---	---	---	---
