#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
UBR4	23352	broad.mit.edu	37	1	19484449	19484449	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:19484449G>A	ENST00000375254.3	-	40	5647	c.5620C>T	c.(5620-5622)Cgg>Tgg	p.R1874W	UBR4_ENST00000375217.2_Missense_Mutation_p.R1874W|UBR4_ENST00000375267.2_Missense_Mutation_p.R1874W|UBR4_ENST00000375226.2_Missense_Mutation_p.R1874W	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1874					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TAATTCATCCGCACATTCTCA	0.537																																						uc001bbi.3																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(5620-5622)Cgg>Tgg		Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.							188.0	167.0	174.0					1																	19484449		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19484449G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5620C>T	1.37:g.19484449G>A	ENSP00000364403:p.Arg1874Trp					UBR4_uc001bbl.1_5'Flank|UBR4_uc001bbm.1_Missense_Mutation_p.R1085W	p.R1874W	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	39	5624	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1874					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.5620C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128577	0.77549	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.34072	1.41;1.41;1.4;1.38	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.57323	-0.7831	10	0.87932	D	0	.	13.5324	0.61629	0.0:0.0:0.8443:0.1557	.	1874	Q5T4S7	UBR4_HUMAN	W	1874;1874;1874;1874;584;1090	ENSP00000364403:R1874W;ENSP00000364416:R1874W;ENSP00000364365:R1874W;ENSP00000364374:R1874W	ENSP00000364365:R1874W	R	-	1	2	UBR4	19357036	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.227000	0.51262	2.386000	0.81285	0.591000	0.81541	CGG		0.537	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
A3GALT2	127550	broad.mit.edu	37	1	33772995	33772995	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:33772995C>T	ENST00000442999.3	-	5	394	c.395G>A	c.(394-396)gGc>gAc	p.G132D	RP11-415J8.3_ENST00000457957.2_RNA|RP11-415J8.3_ENST00000588828.1_RNA|A3GALT2_ENST00000330379.5_Missense_Mutation_p.G77D	NM_001080438.1	NP_001073907.1			alpha 1,3-galactosyltransferase 2														Myeloproliferative disorder(586;0.0393)				CACGCTCTGGCCCGCCATGAA	0.697																																																									0																				39.0	40.0	40.0					1																	33772995		2008	4137	6145	SO:0001583	missense	127550							g.chr1:33772995C>T		CCDS60080.1	1p35.1	2013-09-05	2013-03-11	2013-03-11	ENSG00000184389	ENSG00000184389		"""Glycosyltransferase family 6 domain containing"""	30005	protein-coding gene	gene with protein product	"""iGb3 synthase"", ""isoglobotriaosylceramide synthase"""		"""alpha 1,3-galactosyltransferase 2, pseudogene"""	A3GALT2P		10854427, 18630988	Standard	NM_001080438		Approved	IGBS3S	uc031plq.1		OTTHUMG00000004125	ENST00000442999.3:c.395G>A	1.37:g.33772995C>T	ENSP00000475261:p.Gly132Asp					ZNF362 (6675 upstream) : PHC2 (16229 downstream)																			Missense_Mutation	SNP	ENST00000442999.3	37																																																																																						0.697	A3GALT2-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000011861.3	NM_001080438	
ERICH3	127254	broad.mit.edu	37	1	75038513	75038513	+	Missense_Mutation	SNP	C	C	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:75038513C>G	ENST00000326665.5	-	14	3099	c.2881G>C	c.(2881-2883)Gac>Cac	p.D961H	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		961	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GATGCTGTGTCCTCCATGGGT	0.522																																						uc001dgg.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2881-2883)Gac>Cac		Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.							148.0	140.0	143.0					1																	75038513		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038513C>G																												ENST00000326665.5:c.2881G>C	1.37:g.75038513C>G	ENSP00000322609:p.Asp961His						p.D961H	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			13	3100	-			961			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2881G>C	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.439456	0.25900	.	.	ENSG00000178965	ENST00000326665	T	0.30182	1.54	5.13	-0.165	0.13355	.	.	.	.	.	T	0.08403	0.0209	L	0.40543	1.245	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.35649	-0.9780	9	0.45353	T	0.12	-2.7246	5.2309	0.15422	0.0:0.3681:0.2515:0.3804	.	961	Q5RHP9	CA173_HUMAN	H	961	ENSP00000322609:D961H	ENSP00000322609:D961H	D	-	1	0	C1orf173	74811101	0.001000	0.12720	0.000000	0.03702	0.032000	0.12392	0.343000	0.19944	-0.046000	0.13446	0.462000	0.41574	GAC		0.522	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
ERICH3	127254	broad.mit.edu	37	1	75055650	75055650	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:75055650C>A	ENST00000326665.5	-	12	2059	c.1841G>T	c.(1840-1842)aGt>aTt	p.S614I	C1orf173_ENST00000420661.2_Missense_Mutation_p.S417I|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		614	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCTGGCACTTTCATCTGT	0.448																																						uc001dgg.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(1840-1842)aGt>aTt		Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.							92.0	88.0	89.0					1																	75055650		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75055650C>A																												ENST00000326665.5:c.1841G>T	1.37:g.75055650C>A	ENSP00000322609:p.Ser614Ile					CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.S408I	p.S614I	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			11	2060	-			614			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1841G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953281	0.53293	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.19105	2.6;2.17	5.26	2.19	0.27852	.	.	.	.	.	T	0.16811	0.0404	L	0.52573	1.65	0.09310	N	1	D;D	0.71674	0.993;0.998	P;D	0.63381	0.804;0.914	T	0.06110	-1.0845	9	0.40728	T	0.16	-0.0141	4.3734	0.11258	0.0:0.5858:0.2057:0.2085	.	417;614	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	I	614;417	ENSP00000322609:S614I;ENSP00000398581:S417I	ENSP00000322609:S614I	S	-	2	0	C1orf173	74828238	0.000000	0.05858	0.157000	0.22605	0.293000	0.27360	0.403000	0.20982	1.215000	0.43411	0.637000	0.83480	AGT		0.448	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
NGF	4803	broad.mit.edu	37	1	115828831	115828831	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:115828831G>A	ENST00000369512.2	-	3	754	c.586C>T	c.(586-588)Cac>Tac	p.H196Y	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	196					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GAGTTCCAGTGCTTTGAGTCA	0.517																																						uc021osd.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(586-588)Cac>Tac		Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	Clenbuterol(DB01407)						92.0	89.0	90.0					1																	115828831		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115828831G>A		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.586C>T	1.37:g.115828831G>A	ENSP00000358525:p.His196Tyr					NGF_uc001efu.1_Missense_Mutation_p.H196Y	p.H196Y	NM_002506	NP_002497	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	0	586	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	196					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.586C>T	CCDS882.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575336	0.65878	.	.	ENSG00000134259	ENST00000369512	T	0.69806	-0.43	4.9	4.9	0.64082	Nerve growth factor-related (5);Nerve growth factor conserved site (1);	0.101468	0.64402	D	0.000003	T	0.75117	0.3806	M	0.64567	1.98	0.58432	D	0.999999	D	0.76494	0.999	D	0.66979	0.948	T	0.78406	-0.2216	10	0.87932	D	0	-21.2001	17.1926	0.86883	0.0:0.0:1.0:0.0	.	196	P01138	NGF_HUMAN	Y	196	ENSP00000358525:H196Y	ENSP00000358525:H196Y	H	-	1	0	NGF	115630354	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.499000	0.73683	2.426000	0.82243	0.455000	0.32223	CAC		0.517	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506	
SPTA1	6708	broad.mit.edu	37	1	158641934	158641934	+	Missense_Mutation	SNP	C	C	T	rs372937123		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:158641934C>T	ENST00000368147.4	-	11	1583	c.1403G>A	c.(1402-1404)cGt>cAt	p.R468H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	468					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R468H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGACGATGACGCTCGTCCCA	0.438																																						uc001fst.1																			1	Substitution - Missense(1)	p.R468H(2)|p.E467K(1)|p.R468C(1)	lung(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1402-1404)cGt>cAt		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.		C	HIS/ARG	1,3921		0,1,1960	111.0	107.0	108.0		1403	4.1	0.1	1		108	0,8320		0,0,4160	no	missense	SPTA1	NM_003126.2	29	0,1,6120	TT,TC,CC		0.0,0.0255,0.0082	possibly-damaging	468/2420	158641934	1,12241	1961	4160	6121	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158641934C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1403G>A	1.37:g.158641934C>T	ENSP00000357129:p.Arg468His						p.R468H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			10	1602	-	all_hematologic(112;0.0378)		468					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1403G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592462	0.86953	2.55E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.61392	0.11;0.11	5.0	4.09	0.47781	.	0.265080	0.20210	N	0.096925	T	0.67832	0.2935	M	0.86178	2.8	0.43868	D	0.996474	D	0.61697	0.99	P	0.62435	0.902	T	0.72906	-0.4150	10	0.54805	T	0.06	.	12.173	0.54169	0.0:0.9174:0.0:0.0826	.	468	P02549	SPTA1_HUMAN	H	468	ENSP00000357130:R468H;ENSP00000357129:R468H	ENSP00000357129:R468H	R	-	2	0	SPTA1	156908558	1.000000	0.71417	0.108000	0.21378	0.069000	0.16628	4.128000	0.57951	1.335000	0.45486	0.655000	0.94253	CGT		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
BRINP3	339479	broad.mit.edu	37	1	190067205	190067205	+	Silent	SNP	C	C	T	rs562180986		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:190067205C>T	ENST00000367462.3	-	8	2475	c.2244G>A	c.(2242-2244)gcG>gcA	p.A748A	BRINP3_ENST00000534846.1_Silent_p.A646A	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	748					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TGGCATTAAACGCCTGCAGAG	0.423																																						uc001gse.1																			0		p.Q747P(1)|p.A748V(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(2242-2244)gcG>gcA		Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.							141.0	138.0	139.0					1																	190067205		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190067205C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2244G>A	1.37:g.190067205C>T						FAM5C_uc010pot.1_Silent_p.A646A	p.A748A	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			7	2476	-	Prostate(682;0.198)		748					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.2244G>A	CCDS1373.1																																																																																				0.423	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
OBSCN	84033	broad.mit.edu	37	1	228466482	228466482	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:228466482G>A	ENST00000422127.1	+	26	6996	c.6952G>A	c.(6952-6954)Gcc>Acc	p.A2318T	RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.A1165T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A2318T|OBSCN_ENST00000570156.2_Missense_Mutation_p.A2747T|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2318	Ig-like 23.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCGGGCCAGCGCCCAGGTGCG	0.637																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(6952-6954)Gcc>Acc		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							37.0	45.0	43.0					1																	228466482		2091	4215	6306	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228466482G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6952G>A	1.37:g.228466482G>A	ENSP00000409493:p.Ala2318Thr					OBSCN_uc001hsn.3_Missense_Mutation_p.A2318T|OBSCN_uc001hsp.1_Missense_Mutation_p.A17T|OBSCN_uc001hsq.1_5'Flank	p.A2318T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			25	6996	+		Prostate(94;0.0405)	2318			Ig-like 23.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.6952G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625513	0.87560	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.66995	-0.24;-0.24;-0.24	3.92	3.92	0.45320	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.80391	0.4614	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78411	-0.2214	10	0.14656	T	0.56	.	16.1074	0.81234	0.0:0.0:1.0:0.0	.	2318;2318;2318	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	T	2318;2318;1165;17	ENSP00000284548:A2318T;ENSP00000409493:A2318T;ENSP00000352613:A1165T	ENSP00000284548:A2318T	A	+	1	0	OBSCN	226533105	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.440000	0.97547	2.044000	0.60594	0.289000	0.19496	GCC		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OR2M4	26245	broad.mit.edu	37	1	248403138	248403138	+	Missense_Mutation	SNP	A	A	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:248403138A>T	ENST00000306687.1	+	1	908	c.908A>T	c.(907-909)aAg>aTg	p.K303M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	303					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCACTACAGAAGGTACTGAAG	0.398																																						uc010pzh.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(907-909)aAg>aTg		Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.							56.0	53.0	54.0					1																	248403138		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248403138A>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.908A>T	1.37:g.248403138A>T	ENSP00000306688:p.Lys303Met						p.K303M	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	908	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		303					Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.908A>T	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.073506	0.36566	.	.	ENSG00000171180	ENST00000306687	T	0.43294	0.95	3.34	2.22	0.28083	.	0.000000	0.43747	D	0.000532	T	0.65133	0.2662	H	0.95004	3.61	0.09310	N	1	D	0.76494	0.999	D	0.67231	0.95	T	0.56402	-0.7985	10	0.72032	D	0.01	.	3.824	0.08846	0.6909:0.0:0.1169:0.1922	.	303	Q96R27	OR2M4_HUMAN	M	303	ENSP00000306688:K303M	ENSP00000306688:K303M	K	+	2	0	OR2M4	246469761	0.001000	0.12720	0.011000	0.14972	0.005000	0.04900	0.960000	0.29253	1.499000	0.48617	0.443000	0.29094	AAG		0.398	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504	
VSTM4	196740	broad.mit.edu	37	10	50285318	50285318	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr10:50285318G>A	ENST00000332853.4	-	4	603	c.580C>T	c.(580-582)Ctc>Ttc	p.L194F		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGCATGAAGAGCAGAATGCTG	0.532																																						uc001jhf.2																			0		p.L193V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.(580-582)Ctc>Ttc		Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.							142.0	111.0	121.0					10																	50285318		2203	4300	6503	SO:0001583	missense	196740					integral to membrane|plasma membrane		g.chr10:50285318G>A	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.580C>T	10.37:g.50285318G>A	ENSP00000331062:p.Leu194Phe						p.L194F	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN			3	609	-			194					B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	c.580C>T	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.195046	0.78902	.	.	ENSG00000165633	ENST00000332853	T	0.11821	2.74	5.4	5.4	0.78164	.	0.351985	0.29015	N	0.013418	T	0.32556	0.0833	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.00320	-1.1820	10	0.51188	T	0.08	-23.3941	16.2124	0.82170	0.0:0.0:1.0:0.0	.	194	Q8IW00	VSTM4_HUMAN	F	194	ENSP00000331062:L194F	ENSP00000331062:L194F	L	-	1	0	VSTM4	49955324	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	5.379000	0.66196	2.814000	0.96858	0.655000	0.94253	CTC		0.532	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984	
PTEN	5728	broad.mit.edu	37	10	89717704	89717704	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr10:89717704delC	ENST00000371953.3	+	7	2086	c.729delC	c.(727-729)ttcfs	p.F243fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	243	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.F243fs*9(1)|p.R234fs*9(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTTTGAGTTCCCTCAGCCGT	0.423		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		50	Whole gene deletion(37)|Deletion - Frameshift(11)|Deletion - In frame(1)|Unknown(1)	p.0?(37)|p.E242fs*15(10)|p.R55fs*1(5)|p.F243fs*9(2)|p.N212fs*1(2)|p.E242*(2)|p.Y27fs*1(2)|p.E242fs*1(2)|p.G165_*404del(1)|p.?(1)|p.F243S(1)|p.R234fs*9(1)|p.E242K(1)|p.G165_K342del(1)|p.F243fs*13(1)	prostate(16)|central_nervous_system(10)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(727-729)ttcfs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							145.0	124.0	131.0					10																	89717704		2203	4300	6503	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717704delC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.729delC	10.37:g.89717704delC	ENSP00000361021:p.Phe243fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.F243fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1761	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	243			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.729delC	CCDS31238.1																																																																																				0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
MRGPRE	116534	broad.mit.edu	37	11	3249597	3249597	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:3249597C>T	ENST00000389832.5	-	2	739	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	MRGPRE_ENST00000436689.2_Missense_Mutation_p.A144T|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGTGAGGGCGCACACACAG	0.711																																						uc021qcj.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(430-432)Gcc>Acc		Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.							10.0	16.0	14.0					11																	3249597		2153	4236	6389	SO:0001583	missense	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249597C>T	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.433G>A	11.37:g.3249597C>T	ENSP00000374482:p.Ala145Thr					MRGPRE_uc001lxq.4_Missense_Mutation_p.A144T	p.A144T	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	430	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	144					Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37	c.430G>A		.	.	.	.	.	.	.	.	.	.	c	9.431	1.085606	0.20390	.	.	ENSG00000184350	ENST00000436689;ENST00000389832	.	.	.	3.61	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.166960	0.27645	U	0.018460	T	0.37517	0.1006	L	0.38649	1.16	0.09310	N	1	D	0.65815	0.995	P	0.60415	0.874	T	0.10613	-1.0622	9	0.27785	T	0.31	-8.7991	5.3355	0.15955	0.0:0.7044:0.0:0.2956	.	144	Q86SM8	MRGRE_HUMAN	T	145;144	.	ENSP00000374482:A144T	A	-	1	0	MRGPRE	3206173	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.451000	0.21779	0.588000	0.29660	0.484000	0.47621	GCC		0.711	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536	
OR8K3	219473	broad.mit.edu	37	11	56086025	56086025	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:56086025G>A	ENST00000312711.1	+	1	243	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GACCCAAAATGTTAGTAAATT	0.353																																						uc010rjf.2																			0				central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(241-243)atG>atA		Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.							104.0	109.0	108.0					11																	56086025		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086025G>A	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.243G>A	11.37:g.56086025G>A	ENSP00000323555:p.Met81Ile						p.M81I	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			0	243	+	Esophageal squamous(21;0.00448)		81					Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.243G>A	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	G	6.028	0.373622	0.11409	.	.	ENSG00000181689	ENST00000312711	T	0.05513	3.43	4.65	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.10165	0.0249	M	0.73319	2.225	0.21184	N	0.999767	B	0.23735	0.09	B	0.27262	0.078	T	0.13629	-1.0502	10	0.87932	D	0	.	9.9528	0.41649	0.0:0.2772:0.5801:0.1427	.	81	Q8NH51	OR8K3_HUMAN	I	81	ENSP00000323555:M81I	ENSP00000323555:M81I	M	+	3	0	OR8K3	55842601	0.446000	0.25665	0.921000	0.36526	0.001000	0.01503	1.151000	0.31651	1.289000	0.44618	-0.195000	0.12781	ATG		0.353	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202	
MAP4K2	5871	broad.mit.edu	37	11	64557670	64557670	+	Silent	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:64557670G>A	ENST00000294066.2	-	29	2329	c.2238C>T	c.(2236-2238)atC>atT	p.I746I	MAP4K2_ENST00000377350.3_Silent_p.I738I	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	746	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CCACAGTCTCGATGGGGAAAT	0.617																																						uc001obh.3																			0				cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						c.(2236-2238)atC>atT		Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.							101.0	93.0	95.0					11																	64557670		2201	4297	6498	SO:0001819	synonymous_variant	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64557670G>A	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.2238C>T	11.37:g.64557670G>A						MAP4K2_uc001obi.3_Silent_p.I738I	p.I746I	NM_004579	NP_004570	Q12851	M4K2_HUMAN			28	2330	-			746			CNH.		Q86VU3	Silent	SNP	ENST00000294066.2	37	c.2238C>T	CCDS8082.1																																																																																				0.617	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579	
NXPE4	54827	broad.mit.edu	37	11	114453106	114453106	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:114453106C>A	ENST00000375478.3	-	3	914	c.734G>T	c.(733-735)aGg>aTg	p.R245M	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	245						extracellular vesicular exosome (GO:0070062)											GTGTTGAGGCCTCACACAGTA	0.438																																						uc001ppc.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(733-735)aGg>aTg		Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.							126.0	124.0	125.0					11																	114453106		2091	4233	6324	SO:0001583	missense	54827					extracellular region		g.chr11:114453106C>A	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.734G>T	11.37:g.114453106C>A	ENSP00000364627:p.Arg245Met					FAM55D_uc001ppd.3_Intron	p.R245M	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)	2	915	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	245					Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.734G>T	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736414	0.49045	.	.	ENSG00000137634	ENST00000375478	T	0.12672	2.66	5.16	0.0255	0.14146	.	0.341952	0.26704	N	0.022921	T	0.27349	0.0671	M	0.79805	2.47	0.26325	N	0.977605	D	0.55385	0.971	P	0.56343	0.796	T	0.07501	-1.0769	10	0.52906	T	0.07	.	8.4975	0.33136	0.0:0.3946:0.0:0.6054	.	245	Q6UWF7	FA55D_HUMAN	M	245	ENSP00000364627:R245M	ENSP00000364627:R245M	R	-	2	0	FAM55D	113958316	0.568000	0.26635	0.022000	0.16811	0.712000	0.41017	0.006000	0.13152	-0.181000	0.10619	-0.469000	0.05056	AGG		0.438	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678	
KRT4	3851	broad.mit.edu	37	12	53207484	53207484	+	Missense_Mutation	SNP	G	G	T	rs201805600		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr12:53207484G>T	ENST00000551956.1	-	1	851	c.359C>A	c.(358-360)aCc>aAc	p.T120N	KRT4_ENST00000458244.2_Missense_Mutation_p.T100N|KRT4_ENST00000293774.4_Missense_Mutation_p.T194N			P19013	K2C4_HUMAN	keratin 4	134	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GTGGAGGGGGGTGAGCAAGCT	0.587																																					Pancreas(190;284 2995 41444 45903)	uc001saz.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(580-582)aCc>aAc		Homo sapiens keratin 4 (KRT4), mRNA.		G	ASN/THR	0,4404		0,0,2202	95.0	105.0	102.0		359	4.9	1.0	12		102	2,8598	2.2+/-6.3	0,2,4298	yes	missense	KRT4	NM_002272.3	65	0,2,6500	TT,TG,GG		0.0233,0.0,0.0154	probably-damaging	120/521	53207484	2,13002	2202	4300	6502	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53207484G>T		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.359C>A	12.37:g.53207484G>T	ENSP00000448220:p.Thr120Asn						p.T194N	NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN			0	581	-			120					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.581C>A	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	G	17.58	3.423968	0.62733	0.0	2.33E-4	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	T;T;T	0.75821	-0.97;-0.97;-0.97	4.88	4.88	0.63580	.	0.000000	0.47852	D	0.000206	T	0.76033	0.3931	L	0.48218	1.51	0.31260	N	0.692959	D	0.58268	0.982	P	0.56088	0.791	T	0.77122	-0.2704	10	0.49607	T	0.09	.	10.1581	0.42836	0.0:0.1247:0.6326:0.2427	.	134	P19013	K2C4_HUMAN	N	120;194;100	ENSP00000448220:T120N;ENSP00000293774:T194N;ENSP00000387904:T100N	ENSP00000293774:T194N	T	-	2	0	KRT4	51493751	0.914000	0.31030	0.999000	0.59377	0.947000	0.59692	1.851000	0.39338	2.636000	0.89361	0.585000	0.79938	ACC		0.587	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	
OR6C1	390321	broad.mit.edu	37	12	55714593	55714593	+	Silent	SNP	G	G	A	rs375702387		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr12:55714593G>A	ENST00000379668.2	+	1	248	c.210G>A	c.(208-210)tcG>tcA	p.S70S		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TAGAAATTTCGTTCACAACCG	0.383																																						uc010spi.2																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(208-210)tcG>tcA		Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.		A		1,4403	2.1+/-5.4	0,1,2201	58.0	59.0	59.0		210	-2.9	0.5	12		59	0,8600		0,0,4300	no	coding-synonymous	OR6C1	NM_001005182.1		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		70/313	55714593	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55714593G>A	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.210G>A	12.37:g.55714593G>A							p.S70S	NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN			0	210	+			70					B2RNM0	Silent	SNP	ENST00000379668.2	37	c.210G>A	CCDS31818.1																																																																																				0.383	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182	
PAH	5053	broad.mit.edu	37	12	103246614	103246614	+	Missense_Mutation	SNP	T	T	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr12:103246614T>A	ENST00000553106.1	-	7	1293	c.821A>T	c.(820-822)aAg>aTg	p.K274M	PAH_ENST00000551988.1_5'Flank|PAH_ENST00000307000.2_Missense_Mutation_p.K269M	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	274			K -> E (in dbSNP:rs142934616). {ECO:0000269|PubMed:11461196}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ATACATGGGCTTGGATCCATG	0.562																																						uc001tjq.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27						c.(820-822)aAg>aTg		Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						142.0	134.0	137.0					12																	103246614		2203	4300	6503	SO:0001583	missense	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103246614T>A	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.821A>T	12.37:g.103246614T>A	ENSP00000448059:p.Lys274Met						p.K274M	NM_000277	NP_000268	P00439	PH4H_HUMAN			6	1294	-			274		K -> E.			Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	c.821A>T	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.485114	0.44147	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99574	-6.2;-6.2	5.73	4.59	0.56863	Aromatic amino acid hydroxylase, C-terminal (3);	0.090793	0.85682	D	0.000000	D	0.98197	0.9404	L	0.38733	1.17	0.58432	D	0.999999	B	0.17038	0.02	B	0.21151	0.033	D	0.97004	0.9731	10	0.46703	T	0.11	-28.2793	11.8687	0.52509	0.0:0.0683:0.0:0.9317	.	274	P00439	PH4H_HUMAN	M	274;269	ENSP00000448059:K274M;ENSP00000303500:K269M	ENSP00000303500:K269M	K	-	2	0	PAH	101770744	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	3.469000	0.53093	1.000000	0.39049	-0.374000	0.07098	AAG		0.562	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1		
EXOSC8	11340	broad.mit.edu	37	13	37580266	37580266	+	Missense_Mutation	SNP	A	A	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr13:37580266A>C	ENST00000389704.3	+	7	624	c.359A>C	c.(358-360)cAg>cCg	p.Q120P	EXOSC8_ENST00000489088.1_3'UTR	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	120					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		CAGATAATTCAGAAAGAGGAC	0.318																																						uc001uwa.3																			0				biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7						c.(358-360)cAg>cCg		Homo sapiens exosome component 8 (EXOSC8), mRNA.							55.0	56.0	56.0					13																	37580266		2201	4300	6501	SO:0001583	missense	11340				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding	g.chr13:37580266A>C	AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"""CBP-interacting protein 3"", ""Opa interacting protein 2"""	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.359A>C	13.37:g.37580266A>C	ENSP00000374354:p.Gln120Pro					EXOSC8_uc001uvz.2_Non-coding_Transcript	p.Q120P	NM_181503	NP_852480	Q96B26	EXOS8_HUMAN		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)	6	624	+		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	120					O43480|Q5TBA5	Missense_Mutation	SNP	ENST00000389704.3	37	c.359A>C	CCDS31958.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.905340	0.33628	.	.	ENSG00000120699	ENST00000389704;ENST00000379809	T	0.40476	1.03	6.17	3.6	0.41247	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.593783	0.20033	N	0.100673	T	0.20333	0.0489	N	0.04018	-0.295	0.28833	N	0.897029	B;B	0.17038	0.0;0.02	B;B	0.20767	0.0;0.031	T	0.10870	-1.0611	10	0.56958	D	0.05	-0.6383	6.8485	0.24003	0.4373:0.3641:0.0:0.1986	.	92;120	Q5JXM0;Q96B26	.;EXOS8_HUMAN	P	120;92	ENSP00000374354:Q120P	ENSP00000369137:Q92P	Q	+	2	0	EXOSC8	36478266	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.227000	0.32576	1.124000	0.41980	0.533000	0.62120	CAG		0.318	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044535.2	NM_181503	
FANCM	57697	broad.mit.edu	37	14	45605251	45605251	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:45605251G>A	ENST00000267430.5	+	1	102	c.17G>A	c.(16-18)aGa>aAa	p.R6K	FANCM_ENST00000542564.2_Missense_Mutation_p.R6K|FKBP3_ENST00000396062.3_5'Flank|FKBP3_ENST00000216330.3_5'Flank|FANCM_ENST00000556036.1_Missense_Mutation_p.R6K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	6					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GGACGGCAAAGAACGCTTTTT	0.582								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.4																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(16-18)aGa>aAa	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.							58.0	58.0	58.0					14																	45605251		2172	4247	6419	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45605251G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.17G>A	14.37:g.45605251G>A	ENSP00000267430:p.Arg6Lys					FANCM_uc001wwc.2_Missense_Mutation_p.R6K|FANCM_uc010anf.3_Missense_Mutation_p.R6K|FKBP3_uc010tqf.2_5'Flank	p.R6K	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			0	116	+			6					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.17G>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341347	0.60963	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.13420	2.66;2.59;2.68	4.68	3.79	0.43588	.	0.054513	0.64402	D	0.000001	T	0.11024	0.0269	L	0.43923	1.385	0.28744	N	0.901796	P;P;B	0.38677	0.642;0.642;0.42	B;B;B	0.35353	0.201;0.201;0.09	T	0.11084	-1.0602	10	0.59425	D	0.04	.	7.2262	0.26016	0.1971:0.0:0.8029:0.0	.	6;6;6	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	K	6	ENSP00000450596:R6K;ENSP00000267430:R6K;ENSP00000442493:R6K	ENSP00000267430:R6K	R	+	2	0	FANCM	44675001	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	3.707000	0.54838	1.192000	0.43071	0.462000	0.41574	AGA		0.582	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
NAA30	122830	broad.mit.edu	37	14	57858239	57858239	+	Silent	SNP	T	T	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:57858239T>G	ENST00000556492.1	+	2	718	c.564T>G	c.(562-564)tcT>tcG	p.S188S	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	188					metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						GGCTGCTGTCTTCGTCCCTGA	0.657																																						uc001xcx.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						c.(562-564)tcT>tcG		Homo sapiens N(alpha)-acetyltransferase 30, NatC catalytic subunit (NAA30), mRNA.							24.0	30.0	28.0					14																	57858239		2199	4292	6491	SO:0001819	synonymous_variant	122830					cytoplasm	peptide alpha-N-acetyltransferase activity	g.chr14:57858239T>G	AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	19844	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 35"", ""N-acetyltransferase 12"", ""N-acetyltransferase 12 (GCN5-related, putative)"""	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.564T>G	14.37:g.57858239T>G						NAA30_uc010trk.2_Intron|NAA30_uc010aow.3_Intron	p.S188S	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN			1	718	+			188					Q0IIN2	Silent	SNP	ENST00000556492.1	37	c.564T>G	CCDS32088.1																																																																																				0.657	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713	
ACOT1	641371	broad.mit.edu	37	14	74004293	74004293	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:74004293C>T	ENST00000311148.4	+	1	476	c.168C>T	c.(166-168)acC>acT	p.T56T	HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000560393.1_Intron|ACOT1_ENST00000557556.1_Silent_p.T56T|HEATR4_ENST00000334988.2_Intron	NM_001037161.1	NP_001032238.1	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	56					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		GCGCCGACACCCTTGGCGAGC	0.746																																						uc001xol.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(166-168)acC>acT		Homo sapiens acyl-CoA thioesterase 1 (ACOT1), mRNA.																																				SO:0001819	synonymous_variant	641371				acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	g.chr14:74004293C>T	DQ082754	CCDS32117.1	14q24.3	2013-09-20			ENSG00000184227	ENSG00000184227		"""Acyl CoA thioesterases"""	33128	protein-coding gene	gene with protein product		614313				16103133, 16940157	Standard	NM_001037161		Approved	ACH2, CTE-1, LACH2		Q86TX2	OTTHUMG00000171607	ENST00000311148.4:c.168C>T	14.37:g.74004293C>T						HEATR4_uc021rwe.1_Intron|HEATR4_uc021rwf.1_Intron|ACOT2_uc010tuc.2_Silent_p.T56T	p.T56T	NM_001037161	NP_001032238	P49753	ACOT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)	0	366	+			118					A1L173|Q3I5F9	Silent	SNP	ENST00000311148.4	37	c.168C>T	CCDS32117.1																																																																																				0.746	ACOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414432.1	NM_001037161	
TSHR	7253	broad.mit.edu	37	14	81610003	81610003	+	Missense_Mutation	SNP	G	G	T	rs536364705	byFrequency	TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:81610003G>T	ENST00000541158.2	+	11	1923	c.1601G>T	c.(1600-1602)cGc>cTc	p.R534L	TSHR_ENST00000298171.2_Missense_Mutation_p.R534L|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	534					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CGGAAGATCCGCCTCAGGCAC	0.562			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															uc001xvd.1			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(1600-1602)cGc>cTc		Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	Thyrotropin Alfa(DB00024)						475.0	320.0	372.0					14																	81610003		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81610003G>T	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1601G>T	14.37:g.81610003G>T	ENSP00000441235:p.Arg534Leu						p.R534L	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	9	1757	+			534					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.1601G>T	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365759	0.61513	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.38077	1.16;1.16	5.37	3.52	0.40303	.	0.203543	0.52532	D	0.000079	T	0.63686	0.2532	H	0.95611	3.695	0.49130	D	0.999758	D	0.54601	0.967	P	0.56343	0.796	T	0.74337	-0.3698	10	0.62326	D	0.03	.	11.8316	0.52299	0.1443:0.0:0.8557:0.0	.	534	F5GYU5	.	L	534;181;534	ENSP00000441235:R534L;ENSP00000298171:R534L	ENSP00000298171:R534L	R	+	2	0	TSHR	80679756	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	3.787000	0.55439	1.267000	0.44247	0.491000	0.48974	CGC		0.562	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369	
IFI27	3429	broad.mit.edu	37	14	94582172	94582172	+	Missense_Mutation	SNP	C	C	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:94582172C>G	ENST00000555744.1	+	4	355	c.167C>G	c.(166-168)gCg>gGg	p.A56G	IFI27_ENST00000298902.5_Missense_Mutation_p.A56G|IFI27_ENST00000557098.1_Missense_Mutation_p.A11G|IFI27_ENST00000557634.1_Missense_Mutation_p.A46G|IFI27_ENST00000448882.1_Missense_Mutation_p.A59G|IFI27_ENST00000444961.1_Missense_Mutation_p.A59G			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	56					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		TTCACTGCGGCGGGAATCGCC	0.642																																					GBM(128;797 1667 20895 29868 47129)	uc021sba.1																			0				breast(1)|lung(3)	4						c.(166-168)gCg>gGg		Homo sapiens interferon, alpha-inducible protein 27 (IFI27), transcript variant 1, mRNA.							28.0	22.0	24.0					14																	94582172		2201	4299	6500	SO:0001583	missense	3429				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion		g.chr14:94582172C>G	X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949			5397	protein-coding gene	gene with protein product		600009				8358738	Standard	NM_005532		Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	ENST00000555744.1:c.167C>G	14.37:g.94582172C>G	ENSP00000451956:p.Ala56Gly					IFI27_uc001ycn.1_Non-coding_Transcript	p.A56G	NM_001130080	NP_001123552	P40305	IFI27_HUMAN		Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)	3	290	+			56					Q53YA6|Q6IEC1|Q96BK3	Silent	SNP	ENST00000555744.1	37	c.167C>G	CCDS32148.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213442	0.39102	.	.	ENSG00000165949	ENST00000554448;ENST00000444961;ENST00000448882;ENST00000557098;ENST00000554800;ENST00000556544;ENST00000298902;ENST00000557634;ENST00000555744	T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	3.52	2.63	0.31362	.	0.416911	0.25372	N	0.031147	T	0.33177	0.0854	L	0.46670	1.46	0.21675	N	0.999598	P	0.38711	0.643	B	0.43623	0.425	T	0.13548	-1.0505	10	0.51188	T	0.08	.	6.9608	0.24595	0.0:0.8741:0.0:0.1259	.	56	P40305	IFI27_HUMAN	G	56;59;59;11;56;56;56;46;56	ENSP00000451370:A56G;ENSP00000413536:A59G;ENSP00000410901:A59G;ENSP00000450753:A11G;ENSP00000451875:A56G;ENSP00000298902:A56G;ENSP00000452560:A46G;ENSP00000451956:A56G	ENSP00000298902:A56G	A	+	2	0	IFI27	93651925	0.005000	0.15991	0.008000	0.14137	0.002000	0.02628	1.565000	0.36386	1.055000	0.40461	0.563000	0.77884	GCG		0.642	IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412889.1	NM_005532	
MGA	23269	broad.mit.edu	37	15	42032290	42032290	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr15:42032290C>T	ENST00000570161.1	+	13	4474	c.4474C>T	c.(4474-4476)Cgt>Tgt	p.R1492C	MGA_ENST00000389936.4_Missense_Mutation_p.R1492C|MGA_ENST00000566586.1_Missense_Mutation_p.R1492C|MGA_ENST00000219905.7_Missense_Mutation_p.R1492C|MGA_ENST00000545763.1_Missense_Mutation_p.R1492C			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGGAAACCACGTACCCTGTT	0.532																																						uc010ucy.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(4474-4476)Cgt>Tgt		Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.							115.0	115.0	115.0					15																	42032290		2056	4206	6262	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42032290C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.4474C>T	15.37:g.42032290C>T	ENSP00000457035:p.Arg1492Cys					MGA_uc010ucz.2_Missense_Mutation_p.R1492C|MGA_uc010uda.1_Missense_Mutation_p.R108C	p.R1492C	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	13	4655	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1492					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.4474C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332914	0.81801	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.85411	-1.98;-1.95;-1.97	6.17	6.17	0.99709	.	0.703272	0.13302	N	0.398195	D	0.84848	0.5563	N	0.19112	0.55	0.41340	D	0.987292	D;D;D	0.89917	1.0;1.0;1.0	P;P;P	0.62184	0.642;0.899;0.854	D	0.83398	0.0021	10	0.87932	D	0	.	9.6433	0.39853	0.0:0.8857:0.0:0.1143	.	108;1492;1492	B4DVS1;F5H7K2;E7ENI0	.;.;.	C	1492	ENSP00000219905:R1492C;ENSP00000374586:R1492C;ENSP00000442467:R1492C	ENSP00000219905:R1492C	R	+	1	0	MGA	39819582	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.888000	0.48594	2.941000	0.99782	0.655000	0.94253	CGT		0.532	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
LRRK1	79705	broad.mit.edu	37	15	101592102	101592102	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr15:101592102C>T	ENST00000388948.3	+	24	3985	c.3626C>T	c.(3625-3627)cCg>cTg	p.P1209L	LRRK1_ENST00000284395.5_Missense_Mutation_p.P1206L|RP11-505E24.2_ENST00000559857.1_RNA|RP11-505E24.3_ENST00000558979.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCAGACACCCGGACCTCCCC	0.617																																						uc002bwr.3																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(3625-3627)cCg>cTg		Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.							51.0	60.0	57.0					15																	101592102		2029	4188	6217	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101592102C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3626C>T	15.37:g.101592102C>T	ENSP00000373600:p.Pro1209Leu					LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_5'Flank	p.P1209L	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		23	3945	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1209						Missense_Mutation	SNP	ENST00000388948.3	37	c.3626C>T	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059540	0.76074	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.73363	-0.72;-0.74	5.41	5.41	0.78517	.	0.208924	0.40640	N	0.001046	T	0.60366	0.2263	L	0.27053	0.805	0.58432	D	0.999998	P	0.45428	0.858	B	0.30943	0.122	T	0.66748	-0.5845	10	0.48119	T	0.1	.	19.2014	0.93713	0.0:1.0:0.0:0.0	.	1209	Q38SD2	LRRK1_HUMAN	L	1209;1206	ENSP00000373600:P1209L;ENSP00000284395:P1206L	ENSP00000284395:P1206L	P	+	2	0	LRRK1	99409625	1.000000	0.71417	0.956000	0.39512	0.958000	0.62258	4.814000	0.62627	2.541000	0.85698	0.655000	0.94253	CCG		0.617	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
SALL1	6299	broad.mit.edu	37	16	51171034	51171034	+	Missense_Mutation	SNP	C	C	G	rs199701845		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:51171034C>G	ENST00000251020.4	-	3	3997	c.3964G>C	c.(3964-3966)Gtc>Ctc	p.V1322L	SALL1_ENST00000440970.1_Missense_Mutation_p.V1225L|SALL1_ENST00000541611.1_Missense_Mutation_p.V145L|SALL1_ENST00000566102.1_3'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1322					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TAACTCGTGACGATCTCCTTG	0.592																																					GBM(103;1352 1446 1855 4775 8890)	uc021tif.1																			0		p.S1225L(1)|p.S1225S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(3673-3675)Gtc>Ctc		Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.							56.0	48.0	51.0					16																	51171034		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51171034C>G	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3964G>C	16.37:g.51171034C>G	ENSP00000251020:p.Val1322Leu					SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Missense_Mutation_p.V174L	p.V1225L	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	3995	-		all_cancers(37;0.0322)	1322					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.3673G>C	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107720	0.56291	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559;ENST00000541611	T;T;T	0.48522	3.19;3.17;0.81	5.8	5.8	0.92144	.	0.113706	0.64402	D	0.000015	T	0.36358	0.0964	N	0.12182	0.205	0.58432	D	0.999997	B;B	0.31077	0.307;0.229	B;B	0.32864	0.154;0.144	T	0.20306	-1.0279	10	0.45353	T	0.12	.	20.0486	0.97617	0.0:1.0:0.0:0.0	.	1322;145	Q9NSC2;F5H733	SALL1_HUMAN;.	L	1322;1225;1286;145	ENSP00000251020:V1322L;ENSP00000407914:V1225L;ENSP00000442827:V145L	ENSP00000251020:V1322L	V	-	1	0	SALL1	49728535	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.800000	0.85949	2.752000	0.94435	0.643000	0.83706	GTC		0.592	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
GNAO1	2775	broad.mit.edu	37	16	56374784	56374784	+	Intron	SNP	C	C	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:56374784C>G	ENST00000262493.6	+	6	1569				GNAO1_ENST00000262494.7_Missense_Mutation_p.I254M	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TTGACAGCATCTGCAACAACA	0.527																																						uc002eit.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(760-762)atC>atG		Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 2, mRNA.							294.0	289.0	291.0					16																	56374784		2198	4300	6498	SO:0001627	intron_variant	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56374784C>G		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.723+4012C>G	16.37:g.56374784C>G						GNAO1_uc002eiu.4_Intron	p.I254M	NM_138736	NP_620073	P09471	GNAO_HUMAN			6	1659	+		all_neural(199;0.159)	254					P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	c.762C>G	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921315	0.73213	.	.	ENSG00000087258	ENST00000262494	D	0.90676	-2.71	5.02	5.02	0.67125	.	.	.	.	.	D	0.97259	0.9104	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98931	1.0787	9	0.87932	D	0	.	18.3413	0.90307	0.0:1.0:0.0:0.0	.	254	P09471-2	.	M	254	ENSP00000262494:I254M	ENSP00000262494:I254M	I	+	3	3	GNAO1	54932285	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.863000	0.56016	2.332000	0.79248	0.561000	0.74099	ATC		0.527	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988	
PMFBP1	83449	broad.mit.edu	37	16	72158703	72158703	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:72158703G>A	ENST00000537792.1	-	1	49	c.50C>T	c.(49-51)gCc>gTc	p.A17V	PMFBP1_ENST00000237353.10_Missense_Mutation_p.A851V|PMFBP1_ENST00000355636.6_Missense_Mutation_p.A706V|PMFBP1_ENST00000537465.1_Missense_Mutation_p.A856V			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	856						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTTAAGGCGGCCATCTCCTC	0.572											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fcc.4																			0		p.E855*(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(2566-2568)gCc>gTc		Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.							161.0	147.0	152.0					16																	72158703		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72158703G>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000537792.1:c.50C>T	16.37:g.72158703G>A	ENSP00000443366:p.Ala17Val		OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1135	PMFBP1_uc002fcd.3_Missense_Mutation_p.A851V|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.A706V|PMFBP1_uc010cgo.1_Missense_Mutation_p.A147V	p.A856V	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			16	2739	-		Ovarian(137;0.179)	856					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000537792.1	37	c.2567C>T		.	.	.	.	.	.	.	.	.	.	G	7.010	0.556590	0.13436	.	.	ENSG00000118557	ENST00000537792;ENST00000537465;ENST00000237353;ENST00000355636	T;T;T;T	0.50277	0.75;2.6;2.59;2.59	5.09	0.423	0.16463	.	1.675920	0.03139	N	0.166374	T	0.37128	0.0992	L	0.34521	1.04	0.09310	N	1	B;B;B	0.32829	0.386;0.253;0.386	B;B;B	0.31337	0.124;0.128;0.124	T	0.23868	-1.0176	10	0.28530	T	0.3	3.1154	8.0291	0.30454	0.0:0.1483:0.3945:0.4571	.	856;851;856	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	V	17;856;851;706	ENSP00000443366:A17V;ENSP00000443817:A856V;ENSP00000237353:A851V;ENSP00000347854:A706V	ENSP00000237353:A851V	A	-	2	0	PMFBP1	70716204	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.551000	0.23361	0.257000	0.21650	0.655000	0.94253	GCC		0.572	PMFBP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396523.1	NM_031293	
GAN	8139	broad.mit.edu	37	16	81390535	81390535	+	Missense_Mutation	SNP	A	A	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:81390535A>G	ENST00000568107.2	+	4	941	c.779A>G	c.(778-780)gAg>gGg	p.E260G		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	260					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CAGCAAGGGGAGGCGATGCTG	0.493																																					GBM(106;1239 1507 7582 9741 33976)	uc002fgo.3																			0		p.G259G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25						c.(778-780)gAg>gGg		Homo sapiens gigaxonin (GAN), mRNA.							103.0	105.0	104.0					16																	81390535		2202	4300	6502	SO:0001583	missense	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81390535A>G	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.779A>G	16.37:g.81390535A>G	ENSP00000476795:p.Glu260Gly						p.E260G	NM_022041	NP_071324	Q9H2C0	GAN_HUMAN			3	927	+		Colorectal(91;0.153)	260						Missense_Mutation	SNP	ENST00000568107.2	37	c.779A>G	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763705	0.69878	.	.	ENSG00000127688	ENST00000248272	T	0.76060	-0.99	5.75	5.75	0.90469	.	0.208186	0.49305	N	0.000150	T	0.64897	0.2640	N	0.24115	0.695	0.80722	D	1	P	0.49185	0.92	B	0.44278	0.445	T	0.63278	-0.6673	10	0.21014	T	0.42	.	16.0671	0.80891	1.0:0.0:0.0:0.0	.	260	Q9H2C0	GAN_HUMAN	G	260	ENSP00000248272:E260G	ENSP00000248272:E260G	E	+	2	0	GAN	79948036	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	9.202000	0.95026	2.192000	0.70111	0.460000	0.39030	GAG		0.493	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3		
FBXO31	79791	broad.mit.edu	37	16	87367838	87367838	+	Missense_Mutation	SNP	G	G	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:87367838G>C	ENST00000311635.7	-	8	1063	c.1051C>G	c.(1051-1053)Cgg>Ggg	p.R351G	RP11-178L8.4_ENST00000568879.1_Missense_Mutation_p.I14M	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	351					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)	p.R351W(1)|p.R179W(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCTGGATCCGATGCCTCAGG	0.657																																						uc002fjw.3																			2	Substitution - Missense(2)	p.R351W(1)|p.R179W(1)	large_intestine(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(1051-1053)Cgg>Ggg		Homo sapiens F-box protein 31 (FBXO31), mRNA.							61.0	60.0	60.0					16																	87367838		2198	4300	6498	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87367838G>C	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1051C>G	16.37:g.87367838G>C	ENSP00000310841:p.Arg351Gly					FBXO31_uc010vot.2_Missense_Mutation_p.R179G|FBXO31_uc002fjv.3_Missense_Mutation_p.R243G	p.R351G	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	7	1095	-			351					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.1051C>G	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508630	0.44660	.	.	ENSG00000103264	ENST00000311635	T	0.67865	-0.29	5.06	5.06	0.68205	.	0.050672	0.85682	D	0.000000	T	0.62134	0.2403	L	0.41236	1.265	0.50171	D	0.999855	P;P	0.39060	0.526;0.657	B;B	0.40066	0.231;0.318	T	0.61392	-0.7072	10	0.32370	T	0.25	-21.8475	18.4237	0.90602	0.0:0.0:1.0:0.0	.	351;243	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	G	351	ENSP00000310841:R351G	ENSP00000310841:R351G	R	-	1	2	FBXO31	85925339	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	7.649000	0.83500	2.355000	0.79922	0.561000	0.74099	CGG		0.657	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735	
BCL6B	255877	broad.mit.edu	37	17	6929925	6929925	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:6929925C>T	ENST00000293805.5	+	6	1131	c.1039C>T	c.(1039-1041)Cgt>Tgt	p.R347C		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	347					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						TGCCAGTCATCGTACAGTGCA	0.582																																						uc010clt.1																			0				skin(1)	1						c.(1039-1041)Cgt>Tgt		Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.							98.0	106.0	104.0					17																	6929925		2100	4227	6327	SO:0001583	missense	255877					nucleus	zinc ion binding	g.chr17:6929925C>T	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.1039C>T	17.37:g.6929925C>T	ENSP00000293805:p.Arg347Cys					BCL6B_uc002geg.2_Missense_Mutation_p.R347C	p.R347C	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN			5	1101	+			347					Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	c.1039C>T	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799104	0.70567	.	.	ENSG00000161940	ENST00000293805	T	0.07688	3.17	5.95	5.95	0.96441	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.136731	0.52532	D	0.000066	T	0.11665	0.0284	L	0.59436	1.845	0.50313	D	0.999868	P	0.40638	0.725	B	0.38842	0.283	T	0.00529	-1.1687	10	0.72032	D	0.01	.	12.7736	0.57436	0.1637:0.8363:0.0:0.0	.	347	Q8N143	BCL6B_HUMAN	C	347	ENSP00000293805:R347C	ENSP00000293805:R347C	R	+	1	0	BCL6B	6870649	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.398000	0.52579	2.826000	0.97356	0.563000	0.77884	CGT		0.582	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844	
MAP2K3	5606	broad.mit.edu	37	17	21208414	21208414	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:21208414G>A	ENST00000342679.4	+	9	997	c.748G>A	c.(748-750)Gac>Aac	p.D250N	MAP2K3_ENST00000316920.6_Missense_Mutation_p.D221N|MAP2K3_ENST00000361818.5_Missense_Mutation_p.D221N	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TGTCAAGTCCGACGTCTGGAG	0.647																																						uc002gys.3																			0											c.(748-750)Gac>Aac		Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.							165.0	139.0	148.0					17																	21208414		2203	4300	6503	SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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 kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21208414G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.748G>A	17.37:g.21208414G>A	ENSP00000345083:p.Asp250Asn					MAP2K3_uc002gyt.3_Missense_Mutation_p.D221N|MAP2K3_uc021tsq.1_Missense_Mutation_p.D221N|MAP2K3_uc021tsr.1_Missense_Mutation_p.D221N	p.D250N	NM_145109	NP_002747	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	8	1013	+			250			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.748G>A	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887130	0.91814	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	D;D	0.82255	-1.59;-1.59	5.13	5.13	0.70059	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	0.64402	D	0.000001	D	0.93096	0.7802	H	0.99887	4.895	0.80722	D	1	D	0.54207	0.965	P	0.45538	0.484	D	0.96448	0.9332	10	0.87932	D	0	-24.7426	18.5726	0.91142	0.0:0.0:1.0:0.0	.	250	P46734	MP2K3_HUMAN	N	250;221;221;254	ENSP00000345083:D250N;ENSP00000355081:D221N	ENSP00000319139:D254N	D	+	1	0	MAP2K3	21149007	1.000000	0.71417	0.255000	0.24374	0.790000	0.44656	9.690000	0.98676	2.387000	0.81309	0.462000	0.41574	GAC		0.647	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109	
UBBP4	23666	broad.mit.edu	37	17	21731067	21731067	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:21731067delC	ENST00000578713.1	+	1	373	c.369delC	c.(367-369)ggcfs	p.G123fs	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Frame_Shift_Del_p.G123fs					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						TCTTTGCAGGCAAGCAGCTGG	0.542																																						uc002gyy.3																			0		p.A122V(1)|p.G123A(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(367-369)ggcfs		SubName: Full=Uncharacterized protein;																																				SO:0001589	frameshift_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:21731067delC	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.369delC	17.37:g.21731067delC	ENSP00000464265:p.Gly123fs						p.G123fs			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	494	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		275			Ubiquitin-like 2.			Frame_Shift_Del	DEL	ENST00000578713.1	37	c.369delC																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2		
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						uc002gyy.3																			18	Substitution - Missense(18)	p.L149R(18)|p.R148S(1)	endometrium(12)|prostate(6)	breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(445-447)cTg>cGg		SubName: Full=Uncharacterized protein;																																				SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg						p.L149R			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	571	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		301			Ubiquitin-like 2.			Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2		
LGALS9	3965	broad.mit.edu	37	17	25974373	25974373	+	Missense_Mutation	SNP	G	G	A	rs149003631		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:25974373G>A	ENST00000395473.2	+	10	2304	c.836G>A	c.(835-837)cGc>cAc	p.R279H	LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000302228.5_Missense_Mutation_p.R247H|LGALS9_ENST00000310394.5_Missense_Mutation_p.R235H	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	279	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GCTGTGGTCCGCAACACCCAG	0.587																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	uc002gzp.3																			0				endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18						c.(835-837)cGc>cAc		Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	92.0	87.0	88.0		740,836	3.4	1.0	17	dbSNP_134	88	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	LGALS9	NM_002308.3,NM_009587.2	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	247/324,279/356	25974373	2,13004	2203	4300	6503	SO:0001583	missense	3965				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	g.chr17:25974373G>A	AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.836G>A	17.37:g.25974373G>A	ENSP00000378856:p.Arg279His					LGALS9_uc002gzq.3_Missense_Mutation_p.R247H|LGALS9_uc002gzr.3_Missense_Mutation_p.R190H|LGALS9_uc010waa.2_Intron	p.R279H	NM_009587	NP_033665	O00182	LEG9_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	9	954	+	Lung NSC(42;0.0103)		279			Galectin 2.		A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	ENST00000395473.2	37	c.836G>A	CCDS11222.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268327	0.80469	0.0	2.33E-4	ENSG00000168961	ENST00000395473;ENST00000302228;ENST00000310394	T;T;T	0.14144	2.53;2.53;2.53	4.36	3.38	0.38709	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	H	0.97131	3.945	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.996	D;P;P	0.75484	0.986;0.878;0.894	T	0.63102	-0.6712	10	0.72032	D	0.01	.	11.312	0.49368	0.0:0.0:0.8163:0.1837	.	190;247;279	B4DJD7;Q3B8N1;O00182	.;.;LEG9_HUMAN	H	279;247;235	ENSP00000378856:R279H;ENSP00000306228:R247H;ENSP00000312259:R235H	ENSP00000306228:R247H	R	+	2	0	LGALS9	22998500	0.998000	0.40836	1.000000	0.80357	0.880000	0.50808	5.359000	0.66074	1.036000	0.39998	0.467000	0.42956	CGC		0.587	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1	NM_009587	
SSH2	85464	broad.mit.edu	37	17	27977712	27977712	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:27977712C>A	ENST00000269033.3	-	12	1256	c.1105G>T	c.(1105-1107)Gcg>Tcg	p.A369S	SSH2_ENST00000540801.1_Missense_Mutation_p.A396S|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	369	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCAGTACGCCAGGAGATCC	0.428																																						uc002heo.1																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1105-1107)Gcg>Tcg		Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.							227.0	195.0	206.0					17																	27977712		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27977712C>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1105G>T	17.37:g.27977712C>A	ENSP00000269033:p.Ala369Ser					SSH2_uc010wbh.1_Missense_Mutation_p.A396S|SSH2_uc002hep.1_Missense_Mutation_p.A369S	p.A369S	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			11	1105	-			369			Tyrosine-protein phosphatase.		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.1105G>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570047	0.86542	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	T;T	0.34667	1.35;1.35	5.66	5.66	0.87406	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.052234	0.85682	D	0.000000	T	0.30885	0.0779	N	0.05383	-0.06	0.80722	D	1	B;B;B	0.17465	0.018;0.0;0.022	B;B;B	0.36092	0.138;0.003;0.217	T	0.20974	-1.0259	10	0.45353	T	0.12	-11.5442	20.1253	0.97977	0.0:1.0:0.0:0.0	.	396;369;369	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	S	369;396;369	ENSP00000269033:A369S;ENSP00000444743:A396S	ENSP00000269033:A369S	A	-	1	0	SSH2	25001838	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.776000	0.85560	2.832000	0.97577	0.655000	0.94253	GCG		0.428	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389	
BPTF	2186	broad.mit.edu	37	17	65889772	65889775	+	Frame_Shift_Del	DEL	GACT	GACT	-			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:65889772_65889775delGACT	ENST00000321892.4	+	8	2781_2784	c.2720_2723delGACT	c.(2719-2724)agactgfs	p.RL907fs	BPTF_ENST00000306378.6_Frame_Shift_Del_p.RL781fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.RL907fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.RL768fs			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	907	Interaction with MAZ.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTACTCTGAGACTGACTATCACC	0.412																																						uc002jgf.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2341-2346)agactgfs		Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65889772_65889775delGACT	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2720_2723delGACT	17.37:g.65889776_65889779delGACT	ENSP00000315454:p.Arg907fs					BPTF_uc002jge.3_Frame_Shift_Del_p.R907fs|BPTF_uc010wqm.1_Frame_Shift_Del_p.R844fs	p.R781fs	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		5	2403_2406	+	all_cancers(12;6e-11)		907					Q6NX67|Q7Z7D6|Q9UIG2	Frame_Shift_Del	DEL	ENST00000321892.4	37	c.2342_2345delGACT																																																																																					0.412	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
RNF157	114804	broad.mit.edu	37	17	74157723	74157723	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:74157723G>A	ENST00000269391.6	-	11	1090	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	RNF157_ENST00000319945.6_Missense_Mutation_p.R320W	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	320							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			AGCAGTGCCCGGAAGGCTGTG	0.507																																					GBM(186;507 2120 27388 27773 52994)	uc002jqz.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25						c.(958-960)Cgg>Tgg		Homo sapiens ring finger protein 157 (RNF157), mRNA.							89.0	90.0	90.0					17																	74157723		2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74157723G>A	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.958C>T	17.37:g.74157723G>A	ENSP00000269391:p.Arg320Trp					RNF157_uc002jra.3_Missense_Mutation_p.R320W	p.R320W	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		10	1027	-			320					Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.958C>T	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442656	0.83993	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.79454	-1.27;-1.27	5.9	5.9	0.94986	Zinc finger, RING/FYVE/PHD-type (1);	0.102610	0.64402	D	0.000003	D	0.88138	0.6356	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.88845	0.3315	10	0.87932	D	0	-26.5432	15.887	0.79258	0.0:0.0:0.864:0.136	.	320;320	Q96PX1-2;Q96PX1	.;RN157_HUMAN	W	320;320;282	ENSP00000269391:R320W;ENSP00000321837:R320W	ENSP00000269391:R320W	R	-	1	2	RNF157	71669318	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.344000	0.59354	2.799000	0.96334	0.650000	0.86243	CGG		0.507	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732	
SMAD7	4092	broad.mit.edu	37	18	46447857	46447857	+	Frame_Shift_Del	DEL	G	G	-			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr18:46447857delG	ENST00000262158.2	-	4	1452	c.1166delC	c.(1165-1167)ccgfs	p.P389fs	SMAD7_ENST00000589634.1_Frame_Shift_Del_p.P388fs|SMAD7_ENST00000591805.1_Frame_Shift_Del_p.P174fs|SMAD7_ENST00000585986.1_5'Flank	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	389	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					GCCCGTCCACGGCTGCTGCAT	0.582																																						uc002ldg.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10						c.(1165-1167)ccgfs		Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.							64.0	58.0	60.0					18																	46447857		2203	4300	6503	SO:0001589	frameshift_variant	4092				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:46447857delG	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"""SMADs"""	6773	protein-coding gene	gene with protein product		602932	"""MAD, mothers against decapentaplegic homolog 7 (Drosophila)"", ""SMAD, mothers against DPP homolog 7 (Drosophila)"""	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.1166delC	18.37:g.46447857delG	ENSP00000262158:p.Pro389fs					SMAD7_uc002ldf.3_Frame_Shift_Del_p.P201fs|SMAD7_uc010xde.2_Frame_Shift_Del_p.P174fs|SMAD7_uc021ujr.1_Frame_Shift_Del_p.P388fs	p.P389fs	NM_005904	NP_005895	O15105	SMAD7_HUMAN			3	1453	-	Colorectal(1;0.0518)		389			MH2.		B7Z773|K7EQ10|O14740|Q6DK23	Frame_Shift_Del	DEL	ENST00000262158.2	37	c.1166delC	CCDS11936.1																																																																																				0.582	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904	
LMAN1	3998	broad.mit.edu	37	18	57022568	57022568	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr18:57022568C>A	ENST00000251047.5	-	3	1171	c.454G>T	c.(454-456)Gat>Tat	p.D152Y		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	152	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TCAAAAGAATCAAAAAATATT	0.353																																						uc002lhz.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(454-456)Gat>Tat		Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	Antihemophilic Factor(DB00025)						74.0	67.0	69.0					18																	57022568		2203	4299	6502	SO:0001583	missense	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57022568C>A	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.454G>T	18.37:g.57022568C>A	ENSP00000251047:p.Asp152Tyr					LMAN1_uc010xek.1_Missense_Mutation_p.D152Y	p.D152Y	NM_005570	NP_005561	P49257	LMAN1_HUMAN			2	486	-		Colorectal(73;0.0946)	152			L-type lectin-like.		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	ENST00000251047.5	37	c.454G>T	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518053	0.85495	.	.	ENSG00000074695	ENST00000251047	T	0.74315	-0.83	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93887	0.7176	10	0.87932	D	0	-27.3376	19.3047	0.94157	0.0:1.0:0.0:0.0	.	152;152	B4DVV0;P49257	.;LMAN1_HUMAN	Y	152	ENSP00000251047:D152Y	ENSP00000251047:D152Y	D	-	1	0	LMAN1	55173548	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.267000	0.78462	2.652000	0.90054	0.655000	0.94253	GAT		0.353	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570	
LSR	51599	broad.mit.edu	37	19	35741541	35741541	+	Missense_Mutation	SNP	C	C	T	rs543260729		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr19:35741541C>T	ENST00000361790.3	+	2	736	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	LSR_ENST00000602122.1_Missense_Mutation_p.R193W|LSR_ENST00000347609.4_Missense_Mutation_p.R156W|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Missense_Mutation_p.R193W|LSR_ENST00000354900.3_Missense_Mutation_p.R193W|AC002128.5_ENST00000604161.1_RNA|LSR_ENST00000427250.1_Missense_Mutation_p.R145W	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	193	Ig-like V-type.				embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTACCAGGGCCGGAGGATTAC	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		17171	0.0		0.0	False		,,,				2504	0.001					uc002nyl.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(577-579)Cgg>Tgg		Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.							27.0	26.0	27.0					19																	35741541		2203	4300	6503	SO:0001583	missense	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35741541C>T	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.577C>T	19.37:g.35741541C>T	ENSP00000354575:p.Arg193Trp					LSR_uc010xsr.2_Missense_Mutation_p.R193W|LSR_uc002nym.3_Missense_Mutation_p.R193W|LSR_uc002nyn.3_Missense_Mutation_p.R193W|LSR_uc002nyo.3_Missense_Mutation_p.R193W|LSR_uc002nyp.3_Missense_Mutation_p.R156W	p.R193W	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		1	800	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		193			Ig-like V-type.		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.577C>T	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160572	0.78226	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609;ENST00000427250	T;T;T;T;T	0.77229	-1.01;-0.86;-0.86;-1.08;-1.06	4.74	1.07	0.20283	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86727	0.6002	M	0.84219	2.685	0.31160	N	0.704503	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;0.999;0.999	D	0.85847	0.1401	10	0.87932	D	0	-20.9343	11.674	0.51419	0.4699:0.5301:0.0:0.0	.	150;156;193;193;193;193	Q9BT33;Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;.;LSR_HUMAN	W	193;193;193;156;145	ENSP00000354575:R193W;ENSP00000346976:R193W;ENSP00000354034:R193W;ENSP00000262627:R156W;ENSP00000394479:R145W	ENSP00000262627:R156W	R	+	1	2	LSR	40433381	0.942000	0.31987	0.999000	0.59377	0.974000	0.67602	1.733000	0.38156	0.550000	0.28991	0.561000	0.74099	CGG		0.642	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925	
ATP4A	495	broad.mit.edu	37	19	36046636	36046636	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr19:36046636C>T	ENST00000262623.3	-	13	1976	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	650					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TCCACTGTCTCGCTGCCTTCC	0.622																																						uc002oal.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(1948-1950)Gag>Aag		Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						144.0	134.0	138.0					19																	36046636		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36046636C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1948G>A	19.37:g.36046636C>T	ENSP00000262623:p.Glu650Lys					ATP4A_uc010eee.1_5'UTR	p.E650K	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		12	1977	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		650					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.1948G>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434668	0.83885	.	.	ENSG00000105675	ENST00000262623	T	0.81247	-1.47	4.97	4.97	0.65823	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.64402	D	0.000003	T	0.81216	0.4776	N	0.21545	0.675	0.80722	D	1	D	0.56287	0.975	P	0.59948	0.866	T	0.82506	-0.0423	10	0.51188	T	0.08	.	15.7722	0.78180	0.0:1.0:0.0:0.0	.	650	P20648	ATP4A_HUMAN	K	650	ENSP00000262623:E650K	ENSP00000262623:E650K	E	-	1	0	ATP4A	40738476	1.000000	0.71417	0.989000	0.46669	0.416000	0.31233	7.651000	0.83577	2.595000	0.87683	0.462000	0.41574	GAG		0.622	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704	
MYT1L	23040	broad.mit.edu	37	2	1926184	1926184	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:1926184C>T	ENST00000399161.2	-	10	2104	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	MYT1L_ENST00000428368.2_Missense_Mutation_p.A453T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	453					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCTTCCATGGCCATCTTCTCC	0.537																																						uc002qxe.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1357-1359)Gcc>Acc		Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.							182.0	176.0	178.0					2																	1926184		2004	4160	6164	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926184C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1357G>A	2.37:g.1926184C>T	ENSP00000382114:p.Ala453Thr					MYT1L_uc002qxd.3_Missense_Mutation_p.A453T|MYT1L_uc010ewl.2_Non-coding_Transcript	p.A453T	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	9	2184	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	453					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1357G>A		.	.	.	.	.	.	.	.	.	.	C	16.67	3.186730	0.57909	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.46063	0.88;0.88	5.91	5.91	0.95273	.	0.096900	0.64402	D	0.000001	T	0.36193	0.0958	L	0.29908	0.895	0.80722	D	1	P;P	0.43938	0.728;0.822	B;B	0.38225	0.196;0.268	T	0.17077	-1.0381	10	0.52906	T	0.07	-35.969	20.2936	0.98544	0.0:1.0:0.0:0.0	.	453;453	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	T	453;401;453	ENSP00000382114:A453T;ENSP00000396103:A453T	ENSP00000295067:A401T	A	-	1	0	MYT1L	1905191	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	3.179000	0.50887	2.801000	0.96364	0.655000	0.94253	GCC		0.537	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
FAM98A	25940	broad.mit.edu	37	2	33810356	33810356	+	Silent	SNP	G	G	A	rs34080556		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:33810356G>A	ENST00000238823.8	-	8	1184	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000441530.2_Silent_p.Y153Y			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	349	Gly-rich.						poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CTCGTCCTCCGTATGAGGAAT	0.597																																						uc002rpa.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24						c.(1042-1044)taC>taT		Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.							135.0	114.0	121.0					2																	33810356		2203	4300	6503	SO:0001819	synonymous_variant	25940							g.chr2:33810356G>A		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.1044C>T	2.37:g.33810356G>A						FAM98A_uc010yne.1_Silent_p.Y153Y|FAM98A_uc010ynd.1_Silent_p.Y179Y|FAM98A_uc002roz.1_Silent_p.Y186Y	p.Y348Y	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN			7	1118	-	all_hematologic(175;0.115)		349			Gly-rich.		B2RNA2|Q9Y3Y6	Silent	SNP	ENST00000238823.8	37	c.1044C>T	CCDS33179.1																																																																																				0.597	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475	
SNRNP200	23020	broad.mit.edu	37	2	96957584	96957584	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:96957584G>A	ENST00000323853.5	-	17	2292	c.2215C>T	c.(2215-2217)Cgg>Tgg	p.R739W	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	739	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.R739W(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CACATGTCCCGGATGGCCCTG	0.557																																						uc002svu.3																			1	Substitution - Missense(1)	p.R739W(2)	ovary(1)	breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(2215-2217)Cgg>Tgg		Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.							65.0	61.0	63.0					2																	96957584		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96957584G>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2215C>T	2.37:g.96957584G>A	ENSP00000317123:p.Arg739Trp						p.R739W	NM_014014	NP_054733	O75643	U520_HUMAN			16	2347	-			739			Helicase C-terminal 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.2215C>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482628	0.84747	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.76316	-1.01	6.17	6.17	0.99709	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91195	0.7226	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	D	0.93031	0.6448	10	0.87932	D	0	-17.1617	12.9695	0.58505	0.0:0.0:0.7432:0.2568	.	739	O75643	U520_HUMAN	W	739;414	ENSP00000317123:R739W	ENSP00000317123:R739W	R	-	1	2	SNRNP200	96321311	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.263000	0.51546	2.941000	0.99782	0.655000	0.94253	CGG		0.557	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014	
ST6GAL2	84620	broad.mit.edu	37	2	107460248	107460248	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:107460248C>T	ENST00000409382.3	-	2	796	c.186G>A	c.(184-186)atG>atA	p.M62I	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.M62I|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.M62I|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	62					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTGCGGCGCCCATGATGGCCC	0.711																																						uc002tdq.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(184-186)atG>atA		Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.							14.0	18.0	16.0					2																	107460248		2181	4279	6460	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460248C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.186G>A	2.37:g.107460248C>T	ENSP00000386942:p.Met62Ile					ST6GAL2_uc002tdr.3_Missense_Mutation_p.M62I|ST6GAL2_uc002tds.3_Missense_Mutation_p.M62I	p.M62I	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN			1	305	-			62					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.186G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785865	0.90282	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.41758	2.08;2.08;0.99	5.64	5.64	0.86602	.	0.180153	0.64402	D	0.000014	T	0.44117	0.1278	L	0.55990	1.75	0.58432	D	0.999999	P;P	0.42941	0.794;0.69	B;B	0.39805	0.31;0.164	T	0.47328	-0.9126	10	0.66056	D	0.02	-48.4448	18.6773	0.91532	0.0:1.0:0.0:0.0	.	62;62	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	I	62	ENSP00000355273:M62I;ENSP00000386942:M62I;ENSP00000387332:M62I	ENSP00000355273:M62I	M	-	3	0	ST6GAL2	106826680	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	3.988000	0.56951	2.654000	0.90174	0.655000	0.94253	ATG		0.711	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528	
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	RNA	SNP	C	C	G	rs17857355	byFrequency	TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:114355998C>G	ENST00000538033.2	+	0	2178							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CCAAGGTGGGCACTTGATGTC	0.612																																						uc002tkh.3																			0											c.(616-618)Cac>Gac		Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																																						375260							g.chr2:114355998C>G			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114355998C>G						WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript	p.H206D							4	674	+									Missense_Mutation	SNP	ENST00000538033.2	37	c.616C>G																																																																																					0.612	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943	
TTN	7273	broad.mit.edu	37	2	179454762	179454762	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:179454762C>T	ENST00000591111.1	-	254	56991	c.56767G>A	c.(56767-56769)Gtt>Att	p.V18923I	TTN_ENST00000359218.5_Missense_Mutation_p.V11624I|TTN_ENST00000460472.2_Missense_Mutation_p.V11499I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V11691I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V20564I|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V17996I|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18923	Ig-like 107.				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)			AGGACGTTAACGATGGCTGAA	0.428																																						uc021vsy.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.(53986-53988)Gtt>Att		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							107.0	101.0	103.0					2																	179454762		1916	4133	6049	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179454762C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56767G>A	2.37:g.179454762C>T	ENSP00000465570:p.Val18923Ile					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V11691I|TTN_uc021vta.1_Missense_Mutation_p.V11624I|TTN_uc021vtb.1_Missense_Mutation_p.V11499I	p.V17996I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		252	54211	-			18923			Fibronectin type-III 30.		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.53986G>A		.	.	.	.	.	.	.	.	.	.	C	14.42	2.529795	0.45073	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.99	5.99	0.97316	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68961	0.3058	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.81914	0.995;0.995;0.995;0.995	T	0.68815	-0.5309	9	0.87932	D	0	.	20.4753	0.99175	0.0:1.0:0.0:0.0	.	11499;11624;11691;18923	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	17996;11499;11691;11624;11497	ENSP00000343764:V17996I;ENSP00000434586:V11499I;ENSP00000340554:V11691I;ENSP00000352154:V11624I	ENSP00000340554:V11691I	V	-	1	0	TTN	179163008	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.770000	0.85390	2.844000	0.97970	0.650000	0.86243	GTT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179584862	179584862	+	Missense_Mutation	SNP	A	A	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:179584862A>G	ENST00000591111.1	-	79	22780	c.22556T>C	c.(22555-22557)aTc>aCc	p.I7519T	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I7836T|TTN_ENST00000342992.6_Missense_Mutation_p.I6592T|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13073	Ig-like 57.				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)			ACTCTCTCTGATGACTTCACC	0.448																																						uc021vsy.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.(19774-19776)aTc>aCc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							108.0	101.0	103.0					2																	179584862		1859	4092	5951	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584862A>G	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.22556T>C	2.37:g.179584862A>G	ENSP00000465570:p.Ile7519Thr					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I3253T	p.I6592T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		77	20000	-			7519			Ig-like 47.		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.19775T>C		.	.	.	.	.	.	.	.	.	.	A	13.33	2.204153	0.38905	.	.	ENSG00000155657	ENST00000342992	T	0.68903	-0.36	5.9	5.9	0.94986	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68192	0.2974	M	0.75085	2.285	0.80722	D	1	P	0.36354	0.549	B	0.34536	0.185	T	0.72792	-0.4186	9	0.87932	D	0	.	16.3275	0.82990	1.0:0.0:0.0:0.0	.	7519	Q8WZ42	TITIN_HUMAN	T	6592	ENSP00000343764:I6592T	ENSP00000343764:I6592T	I	-	2	0	TTN	179293107	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.406000	0.80017	2.266000	0.75297	0.528000	0.53228	ATC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ZDBF2	57683	broad.mit.edu	37	2	207173138	207173138	+	Missense_Mutation	SNP	G	G	A	rs190838042		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:207173138G>A	ENST00000374423.3	+	5	4272	c.3886G>A	c.(3886-3888)Gta>Ata	p.V1296I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1296							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V1296I(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTTCAGTCCGTAACTAATAA	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		19220	0.0		0.001	False		,,,				2504	0.0					uc002vbp.2																			2	Substitution - Missense(2)	p.V1296I(3)	large_intestine(2)	endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3886-3888)Gta>Ata		Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.							27.0	27.0	27.0					2																	207173138		1801	4066	5867	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207173138G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3886G>A	2.37:g.207173138G>A	ENSP00000363545:p.Val1296Ile						p.V1296I	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			4	4136	+			1296					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3886G>A	CCDS46501.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	4.891	0.165682	0.09339	.	.	ENSG00000204186	ENST00000374423	T	0.59224	0.28	4.12	1.29	0.21616	.	.	.	.	.	T	0.43100	0.1232	L	0.50333	1.59	0.09310	N	1	P	0.35272	0.493	B	0.29598	0.104	T	0.25950	-1.0117	9	0.38643	T	0.18	.	4.2338	0.10616	0.2105:0.1906:0.5989:0.0	.	1296	Q9HCK1	ZDBF2_HUMAN	I	1296	ENSP00000363545:V1296I	ENSP00000363545:V1296I	V	+	1	0	ZDBF2	206881383	0.104000	0.21937	0.073000	0.20177	0.002000	0.02628	0.770000	0.26618	0.272000	0.22027	-0.143000	0.13931	GTA		0.383	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
SPEG	10290	broad.mit.edu	37	2	220346370	220346370	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:220346370G>A	ENST00000312358.7	+	28	5665	c.5533G>A	c.(5533-5535)Gca>Aca	p.A1845T	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1845	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GAGACCTACCGCAGAAGAGAC	0.458																																						uc010fwg.3																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(5533-5535)Gca>Aca		Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.							112.0	106.0	108.0					2																	220346370		1956	4151	6107	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220346370G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5533G>A	2.37:g.220346370G>A	ENSP00000311684:p.Ala1845Thr						p.A1845T	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	27	5533	+		Renal(207;0.0183)	1845			Protein kinase 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.5533G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.401311	0.62288	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.48522	0.81	4.91	4.91	0.64330	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	0.38778	N	0.001570	T	0.66005	0.2746	M	0.87827	2.91	0.80722	D	1	P	0.46578	0.88	P	0.50490	0.642	T	0.72740	-0.4202	10	0.52906	T	0.07	.	18.4541	0.90714	0.0:0.0:1.0:0.0	.	1845	Q15772	SPEG_HUMAN	T	1845	ENSP00000311684:A1845T	ENSP00000265327:A1845T	A	+	1	0	SPEG	220054614	1.000000	0.71417	0.991000	0.47740	0.721000	0.41392	5.968000	0.70413	2.432000	0.82394	0.561000	0.74099	GCA		0.458	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
DGKD	8527	broad.mit.edu	37	2	234360642	234360642	+	Missense_Mutation	SNP	G	G	A	rs145038453	byFrequency	TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:234360642G>A	ENST00000264057.2	+	18	2212	c.2200G>A	c.(2200-2202)Ggt>Agt	p.G734S	DGKD_ENST00000409813.3_Missense_Mutation_p.G690S	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	734					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TTCCTTACCCGGTGGCTCAGT	0.493													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		17768	0.0		0.0	False		,,,				2504	0.0					uc002vui.1																			0		p.G734fs*12(1)|p.P733S(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(2200-2202)Ggt>Agt		Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	Phosphatidylserine(DB00144)	G	SER/GLY,SER/GLY	6,4400	11.4+/-27.6	0,6,2197	128.0	118.0	122.0		2068,2200	4.8	0.3	2	dbSNP_134	122	0,8600		0,0,4300	yes	missense,missense	DGKD	NM_003648.2,NM_152879.2	56,56	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign,benign	690/1171,734/1215	234360642	6,13000	2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234360642G>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2200G>A	2.37:g.234360642G>A	ENSP00000264057:p.Gly734Ser					DGKD_uc002vuj.1_Missense_Mutation_p.G690S|DGKD_uc010fyh.1_Missense_Mutation_p.G601S|DGKD_uc010fyi.1_Non-coding_Transcript	p.G734S	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	17	2212	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	734					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.2200G>A	CCDS2504.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.06	3.016122	0.54468	0.001362	0.0	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.80738	-1.25;-1.41	4.81	4.81	0.61882	.	0.070722	0.56097	D	0.000023	T	0.78329	0.4266	M	0.74881	2.28	0.48288	D	0.999625	P;P;P	0.44946	0.846;0.591;0.846	B;B;B	0.34536	0.133;0.034;0.185	T	0.80079	-0.1532	10	0.31617	T	0.26	.	18.7723	0.91898	0.0:0.0:1.0:0.0	.	618;690;734	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	S	734;690	ENSP00000264057:G734S;ENSP00000386455:G690S	ENSP00000264057:G734S	G	+	1	0	DGKD	234025381	1.000000	0.71417	0.256000	0.24389	0.787000	0.44495	5.625000	0.67770	2.606000	0.88127	0.637000	0.83480	GGT		0.493	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	
GPR35	2859	broad.mit.edu	37	2	241569721	241569721	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:241569721G>A	ENST00000319838.5	+	6	1294	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	GPR35_ENST00000407714.1_Missense_Mutation_p.V118M|GPR35_ENST00000430267.1_Missense_Mutation_p.V118M|GPR35_ENST00000438013.2_Missense_Mutation_p.V149M|GPR35_ENST00000403859.1_Missense_Mutation_p.V118M	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	118					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CTATGTGGCCGTGCGGCACCC	0.701																																						uc010fzi.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17						c.(445-447)Gtg>Atg		Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.							25.0	22.0	23.0					2																	241569721		2201	4299	6500	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241569721G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.352G>A	2.37:g.241569721G>A	ENSP00000322731:p.Val118Met					GPR35_uc010fzh.2_Missense_Mutation_p.V149M|GPR35_uc021vze.1_Missense_Mutation_p.V118M|GPR35_uc002vzs.2_Missense_Mutation_p.V118M	p.V149M	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	5	1317	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	118					J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.445G>A	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766445	0.49574	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	4.02	2.15	0.27550	GPCR, rhodopsin-like superfamily (1);	0.212634	0.37012	N	0.002290	D	0.85470	0.5704	M	0.87328	2.875	0.32228	N	0.574292	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.983;0.983;0.975	D	0.84184	0.0441	10	0.87932	D	0	-24.4906	3.678	0.08299	0.204:0.2288:0.5672:0.0	.	203;149;118	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	M	118;118;149;118;118	ENSP00000322731:V118M;ENSP00000385140:V118M;ENSP00000415890:V149M;ENSP00000384263:V118M;ENSP00000411788:V118M	ENSP00000322731:V118M	V	+	1	0	GPR35	241218394	0.000000	0.05858	0.993000	0.49108	0.346000	0.29079	0.006000	0.13152	1.020000	0.39573	0.462000	0.41574	GTG		0.701	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382	
DTYMK	1841	broad.mit.edu	37	2	242617899	242617899	+	Frame_Shift_Del	DEL	G	G	-			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:242617899delG	ENST00000305784.2	-	4	703	c.496delC	c.(496-498)cagfs	p.Q166fs		NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	166					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TTCATGAGCTGGTGGAAACAC	0.582																																						uc002wbz.2																			0				NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(496-498)cagfs		Homo sapiens deoxythymidylate kinase (thymidylate kinase) (DTYMK), transcript variant 1, mRNA.							99.0	99.0	99.0					2																	242617899		2203	4296	6499	SO:0001589	frameshift_variant	1841				cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity	g.chr2:242617899delG	X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"""dTMP kinase"", ""thymidylate (dTMP) kinase"""	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.496delC	2.37:g.242617899delG	ENSP00000304802:p.Gln166fs					DTYMK_uc010zpa.2_Frame_Shift_Del_p.Q142fs|DTYMK_uc002wca.2_Non-coding_Transcript|DTYMK_uc010zpb.2_Non-coding_Transcript|DTYMK_uc002wcb.1_5'Flank	p.Q166fs	NM_012145	NP_036277	P23919	KTHY_HUMAN		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	3	681	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	166					B7ZW70|Q6FGX1|Q9BUX4	Frame_Shift_Del	DEL	ENST00000305784.2	37	c.496delC	CCDS2552.1																																																																																				0.582	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257266.2	NM_012145	
PTGIS	5740	broad.mit.edu	37	20	48140704	48140704	+	Missense_Mutation	SNP	C	C	T	rs45571835		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr20:48140704C>T	ENST00000244043.4	-	6	775	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	249					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	CCGGTGGGCCCGCCTGGCCAG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		20019	0.0		0.001	False		,,,				2504	0.0					uc002xut.3																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(745-747)cGg>cAg		Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	Phenylbutazone(DB00812)						95.0	87.0	90.0					20																	48140704		2203	4300	6503	SO:0001583	missense	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48140704C>T		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.746G>A	20.37:g.48140704C>T	ENSP00000244043:p.Arg249Gln					PTGIS_uc010zyi.2_Missense_Mutation_p.R110Q	p.R249Q	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		5	800	-			249					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	37	c.746G>A	CCDS13419.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.20	3.055136	0.55325	.	.	ENSG00000124212	ENST00000244043	T	0.01516	4.81	5.24	4.29	0.51040	.	0.498091	0.21755	N	0.069604	T	0.03871	0.0109	M	0.62088	1.915	0.26958	N	0.965882	D	0.63046	0.992	P	0.51193	0.662	T	0.40701	-0.9549	10	0.21540	T	0.41	-13.7176	9.0893	0.36601	0.0:0.9012:0.0:0.0988	rs45571835	249	Q16647	PTGIS_HUMAN	Q	249	ENSP00000244043:R249Q	ENSP00000244043:R249Q	R	-	2	0	PTGIS	47574111	0.402000	0.25311	0.780000	0.31762	0.227000	0.25037	1.881000	0.39638	2.618000	0.88619	0.655000	0.94253	CGG		0.627	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2		
ATP9A	10079	broad.mit.edu	37	20	50225158	50225158	+	Missense_Mutation	SNP	T	T	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr20:50225158T>C	ENST00000338821.5	-	25	2908	c.2644A>G	c.(2644-2646)Aca>Gca	p.T882A	ATP9A_ENST00000311637.5_Missense_Mutation_p.T746A|ATP9A_ENST00000402822.1_Missense_Mutation_p.T761A	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	882					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTGTAAATTGTGGAGTACCTG	0.507																																						uc002xwg.1																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2644-2646)Aca>Gca		Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.							99.0	89.0	92.0					20																	50225158		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50225158T>C	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2644A>G	20.37:g.50225158T>C	ENSP00000342481:p.Thr882Ala					ATP9A_uc010gih.1_Missense_Mutation_p.T746A|ATP9A_uc002xwf.1_Missense_Mutation_p.T54A	p.T882A	NM_006045	NP_006036	O75110	ATP9A_HUMAN			24	2644	-			882					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.2644A>G	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391025	0.82902	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.88354	-2.37;-2.37;-2.37	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.94401	0.8199	M	0.84433	2.695	0.80722	D	1	D;D	0.56968	0.974;0.978	D;P	0.67725	0.953;0.694	D	0.95243	0.8353	10	0.87932	D	0	-16.9304	14.4744	0.67537	0.0:0.0:0.0:1.0	.	761;882	O75110-2;O75110	.;ATP9A_HUMAN	A	746;882;761	ENSP00000309086:T746A;ENSP00000342481:T882A;ENSP00000385875:T761A	ENSP00000309086:T746A	T	-	1	0	ATP9A	49658565	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	7.953000	0.87836	1.813000	0.52934	0.533000	0.62120	ACA		0.507	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045	
MRGBP	55257	broad.mit.edu	37	20	61430922	61430922	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr20:61430922G>A	ENST00000370487.3	+	5	613	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	OGFR-AS1_ENST00000431361.1_RNA	NM_018270.4	NP_060740.1	Q9NV56	MRGBP_HUMAN	MRG/MORF4L binding protein	181					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	H4/H2A histone acetyltransferase complex (GO:0043189)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AAGCGCAGCCGGGTCACCGAC	0.582																																						uc002ydi.3																			0		p.R181W(2)|p.S180S(1)		endometrium(1)|lung(5)|skin(2)|urinary_tract(3)	11						c.(541-543)cGg>cAg		Homo sapiens chromosome 20 open reading frame 20 (C20orf20), mRNA.							99.0	101.0	101.0					20																	61430922		2203	4300	6503	SO:0001583	missense	55257				chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	H4/H2A histone acetyltransferase complex		g.chr20:61430922G>A	AK001776	CCDS13503.1	20q13.33	2012-10-29	2012-10-29	2012-10-29	ENSG00000101189	ENSG00000101189			15866	protein-coding gene	gene with protein product		611157	"""chromosome 20 open reading frame 20"""	C20orf20		12963728	Standard	NM_018270		Approved	FLJ10914, MRG15BP, Eaf7	uc002ydi.3	Q9NV56	OTTHUMG00000032940	ENST00000370487.3:c.542G>A	20.37:g.61430922G>A	ENSP00000359518:p.Arg181Gln						p.R181Q	NM_018270	NP_060740	Q9NV56	MRGBP_HUMAN			4	613	+	Breast(26;3.65e-08)		181					A8C4L5	Missense_Mutation	SNP	ENST00000370487.3	37	c.542G>A	CCDS13503.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506127	0.85282	.	.	ENSG00000101189	ENST00000370487	.	.	.	5.47	4.51	0.55191	.	0.066126	0.64402	D	0.000007	T	0.47507	0.1449	L	0.32530	0.975	0.52501	D	0.999959	D	0.64830	0.994	P	0.45377	0.478	T	0.52533	-0.8563	9	0.62326	D	0.03	-12.0939	15.5601	0.76237	0.0:0.0:0.8607:0.1393	.	181	Q9NV56	MRGBP_HUMAN	Q	181	.	ENSP00000359518:R181Q	R	+	2	0	C20orf20	60901367	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	7.117000	0.77129	1.274000	0.44362	-0.181000	0.13052	CGG		0.582	MRGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080080.1	NM_018270	
KRTAP10-8	386681	broad.mit.edu	37	21	46032293	46032293	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr21:46032293C>T	ENST00000334662.2	+	1	298	c.276C>T	c.(274-276)gaC>gaT	p.D92D	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	92	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						GCTGCACCGACTCCTGCACAC	0.662																																						uc002zfo.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(274-276)gaC>gaT		Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.							81.0	78.0	79.0					21																	46032293		2203	4300	6503	SO:0001819	synonymous_variant	386681					keratin filament		g.chr21:46032293C>T	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.276C>T	21.37:g.46032293C>T						TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.D92D	NM_198695	NP_941968	P60410	KR108_HUMAN			0	298	+			92			19 X 5 AA repeats of C-C-X(3).		A0JNW4	Silent	SNP	ENST00000334662.2	37	c.276C>T	CCDS13713.1																																																																																				0.662	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695	
IL17RA	23765	broad.mit.edu	37	22	17589233	17589233	+	Missense_Mutation	SNP	T	T	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr22:17589233T>C	ENST00000319363.6	+	13	1257	c.1124T>C	c.(1123-1125)cTg>cCg	p.L375P		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	375					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCCCCACCGCTGAAGCCCAGG	0.637																																						uc002zly.3																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(1123-1125)cTg>cCg		Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.							57.0	60.0	59.0					22																	17589233		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17589233T>C	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1124T>C	22.37:g.17589233T>C	ENSP00000320936:p.Leu375Pro						p.L375P	NM_014339	NP_055154	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	12	1255	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	375					O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1124T>C	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.830244	0.50845	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.08193	3.12	5.81	5.81	0.92471	.	0.126831	0.35739	N	0.003014	T	0.25082	0.0609	M	0.75447	2.3	0.54753	D	0.999984	D;D	0.89917	1.0;0.959	D;P	0.75484	0.986;0.835	T	0.02751	-1.1115	10	0.24483	T	0.36	-25.0016	10.4901	0.44746	0.0:0.0722:0.0:0.9278	.	323;375	D3YTB4;Q96F46	.;I17RA_HUMAN	P	323;375	ENSP00000320936:L375P	ENSP00000320936:L375P	L	+	2	0	IL17RA	15969233	1.000000	0.71417	0.998000	0.56505	0.609000	0.37215	3.768000	0.55295	2.221000	0.72209	0.454000	0.30748	CTG		0.637	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339	
APOBEC3A	200315	broad.mit.edu	37	22	39355652	39355652	+	Silent	SNP	G	G	A	rs193155851	byFrequency	TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr22:39355652G>A	ENST00000402255.1	+	3	339	c.135G>A	c.(133-135)tcG>tcA	p.S45S	APOBEC3A_ENST00000249116.2_Silent_p.S45S			P31941	ABC3A_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A	45					cellular response to xenobiotic stimulus (GO:0071466)|clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine (GO:0044356)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5	Melanoma(58;0.04)					ATGGCACCTCGGTCAAGATGG	0.532													G|||	3	0.000599042	0.0	0.0014	5008	,	,		19225	0.0		0.001	False		,,,				2504	0.001					uc003awn.2																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(133-135)tcG>tcA		Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (APOBEC3A), transcript variant 1, mRNA.		G		0,4406		0,0,2203	96.0	82.0	87.0		135	0.9	0.0	22		87	2,8598		0,2,4298	no	coding-synonymous	APOBEC3A	NM_145699.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		45/200	39355652	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	200315				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39355652G>A	U03891	CCDS13981.1	22q13.1-q13.2	2014-01-28			ENSG00000128383	ENSG00000128383		"""Apolipoprotein B mRNA editing enzymes"""	17343	protein-coding gene	gene with protein product	"""phorbolin I"""	607109				11863358, 10469298	Standard	NM_145699		Approved	ARP3, PHRBN		P31941	OTTHUMG00000151004	ENST00000402255.1:c.135G>A	22.37:g.39355652G>A						APOBEC3B_uc011aob.1_Silent_p.S27S|APOBEC3B_uc011aoc.1_Silent_p.S45S	p.S45S	NM_145699	NP_663745	Q9UH17	ABC3B_HUMAN			1	305	+	Melanoma(58;0.04)		228					A0AVM1|Q12807|Q5JZ93|Q9UH18	Silent	SNP	ENST00000402255.1	37	c.135G>A	CCDS13981.1																																																																																				0.532	APOBEC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320915.2	NM_145699	
MCAT	27349	broad.mit.edu	37	22	43538975	43538975	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr22:43538975G>A	ENST00000290429.6	-	1	425	c.380C>T	c.(379-381)gCa>gTa	p.A127V	MCAT_ENST00000464244.1_5'UTR|MCAT_ENST00000327555.5_Missense_Mutation_p.A127V	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	127					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GGCCAGCGATGCCACGAAGAT	0.682																																						uc003bdl.1																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(379-381)gCa>gTa		Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial) (MCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							18.0	16.0	17.0					22																	43538975		2199	4298	6497	SO:0001583	missense	27349				fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	g.chr22:43538975G>A	AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.380C>T	22.37:g.43538975G>A	ENSP00000290429:p.Ala127Val					MCAT_uc003bdm.1_Missense_Mutation_p.A127V	p.A127V	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN			0	429	-		Ovarian(80;0.0694)	127					B0QY72|O95510|O95511	Missense_Mutation	SNP	ENST00000290429.6	37	c.380C>T	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500266	0.44455	.	.	ENSG00000100294	ENST00000327555;ENST00000290429	T;T	0.33216	1.42;1.42	4.6	3.53	0.40419	Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase (1);Acyl transferase domain (1);	0.362816	0.29791	N	0.011191	T	0.14442	0.0349	N	0.04959	-0.14	0.41971	D	0.990756	B;B	0.33266	0.164;0.404	B;B	0.30716	0.119;0.02	T	0.13361	-1.0512	10	0.23302	T	0.38	-6.5219	13.2326	0.59951	0.0897:0.0:0.9103:0.0	.	127;127	B0QY72;Q8IVS2	.;FABD_HUMAN	V	127	ENSP00000331306:A127V;ENSP00000290429:A127V	ENSP00000290429:A127V	A	-	2	0	MCAT	41868919	1.000000	0.71417	0.980000	0.43619	0.657000	0.38888	3.905000	0.56333	2.394000	0.81467	0.467000	0.42956	GCA		0.682	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467	
MST1R	4486	broad.mit.edu	37	3	49940449	49940449	+	Silent	SNP	G	G	A	rs200307089		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr3:49940449G>A	ENST00000296474.3	-	1	621	c.594C>T	c.(592-594)taC>taT	p.Y198Y	CTD-2330K9.3_ENST00000419183.1_5'Flank|MST1R_ENST00000344206.4_Silent_p.Y198Y|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	198	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AGGATGCCACGTAGAAATAGG	0.632																																						uc003cxy.4																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(592-594)taC>taT		Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.							26.0	28.0	27.0					3																	49940449		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49940449G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.594C>T	3.37:g.49940449G>A						MST1R_uc011bdc.2_Silent_p.Y198Y|MST1R_uc011bdd.2_Silent_p.Y198Y|MST1R_uc011bde.1_Silent_p.Y198Y|MST1R_uc011bdf.1_Silent_p.Y198Y|MST1R_uc011bdg.2_Silent_p.Y198Y	p.Y198Y	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	0	858	-			198			Sema.		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.594C>T	CCDS2807.1																																																																																				0.632	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1		
FLNB	2317	broad.mit.edu	37	3	58145402	58145402	+	Missense_Mutation	SNP	A	A	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr3:58145402A>C	ENST00000295956.4	+	42	7175	c.7010A>C	c.(7009-7011)gAg>gCg	p.E2337A	FLNB_ENST00000348383.5_Missense_Mutation_p.E2296A|FLNB_ENST00000429972.2_Missense_Mutation_p.E2326A|FLNB_ENST00000358537.3_Missense_Mutation_p.E2313A|FLNB_ENST00000493452.1_Missense_Mutation_p.E2144A|FLNB_ENST00000419752.2_Missense_Mutation_p.E2157A|FLNB_ENST00000357272.4_3'UTR|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000490882.1_Missense_Mutation_p.E2368A	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2337	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CACGTGTCTGAGCTGGAGCCA	0.572																																						uc003djj.2																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(7009-7011)gAg>gCg		Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.							36.0	36.0	36.0					3																	58145402		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58145402A>C	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.7010A>C	3.37:g.58145402A>C	ENSP00000295956:p.Glu2337Ala					FLNB_uc010hne.2_Missense_Mutation_p.E2368A|FLNB_uc003djk.2_Missense_Mutation_p.E2326A|FLNB_uc010hnf.2_Missense_Mutation_p.E2313A|FLNB_uc003djl.2_Missense_Mutation_p.E2157A|FLNB_uc003djm.2_Missense_Mutation_p.E2144A	p.E2337A	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	41	7175	+			2337			Interaction with INPPL1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.7010A>C	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.663973	0.88251	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.87	5.87	0.94306	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.087583	0.85682	D	0.000000	D	0.91389	0.7283	M	0.68317	2.08	0.58432	D	0.999999	D;D;D;P;D;D	0.76494	0.997;0.997;0.999;0.915;0.999;0.999	D;D;D;P;D;D	0.87578	0.967;0.972;0.998;0.557;0.998;0.998	D	0.91169	0.4967	10	0.46703	T	0.11	.	16.332	0.83039	1.0:0.0:0.0:0.0	.	2313;2368;2144;2157;2326;2337	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	A	2337;2368;2313;2326;2296;2144;2157	ENSP00000295956:E2337A;ENSP00000420213:E2368A;ENSP00000351339:E2313A;ENSP00000415599:E2326A;ENSP00000232447:E2296A;ENSP00000418510:E2144A;ENSP00000414532:E2157A	ENSP00000295956:E2337A	E	+	2	0	FLNB	58120442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.251000	0.74343	0.529000	0.55759	GAG		0.572	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
OR5H1	26341	broad.mit.edu	37	3	97852262	97852262	+	Missense_Mutation	SNP	T	T	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr3:97852262T>A	ENST00000354565.2	+	1	721	c.721T>A	c.(721-723)Tgt>Agt	p.C241S	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CTTTTCCACCTGTGGAGCCCA	0.408																																						uc011bgt.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(721-723)Tgt>Agt		Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.							117.0	127.0	123.0					3																	97852262		2203	4299	6502	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852262T>A	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.721T>A	3.37:g.97852262T>A	ENSP00000346575:p.Cys241Ser						p.C241S	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			0	721	+			241						Missense_Mutation	SNP	ENST00000354565.2	37	c.721T>A	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.355764	0.41700	.	.	ENSG00000231192	ENST00000354565	T	0.00369	7.74	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000092	T	0.01592	0.0051	H	0.97732	4.065	0.33617	D	0.604368	D	0.89917	1.0	D	0.97110	1.0	T	0.02398	-1.1165	10	0.87932	D	0	.	10.1009	0.42504	0.0:0.0:0.0:1.0	.	241	A6NKK0	OR5H1_HUMAN	S	241	ENSP00000346575:C241S	ENSP00000346575:C241S	C	+	1	0	OR5H1	99334952	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	7.097000	0.76967	1.481000	0.48307	0.164000	0.16699	TGT		0.408	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338	
CPZ	8532	broad.mit.edu	37	4	8605776	8605776	+	Silent	SNP	C	C	T	rs537441827		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr4:8605776C>T	ENST00000360986.4	+	4	744	c.570C>T	c.(568-570)taC>taT	p.Y190Y	CPZ_ENST00000382480.2_Silent_p.Y53Y|CPZ_ENST00000315782.6_Silent_p.Y179Y|CPZ_ENST00000429646.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	190					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACCACTCCTACGCCCAGATGG	0.706													C|||	1	0.000199681	0.0	0.0	5008	,	,		17551	0.0		0.0	False		,,,				2504	0.001					uc003glm.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(568-570)taC>taT		Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.							28.0	23.0	25.0					4																	8605776		2166	4260	6426	SO:0001819	synonymous_variant	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8605776C>T	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.570C>T	4.37:g.8605776C>T						CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.Y179Y|CPZ_uc003gln.3_Silent_p.Y53Y	p.Y190Y	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN			3	744	+			190					O00520|Q96MX2	Silent	SNP	ENST00000360986.4	37	c.570C>T	CCDS33953.1																																																																																				0.706	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652	
WDR1	9948	broad.mit.edu	37	4	10100717	10100718	+	In_Frame_Ins	INS	-	-	TGCTCC			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr4:10100717_10100718insTGCTCC	ENST00000499869.2	-	4	468_469	c.275_276insGGAGCA	c.(274-276)cac>caGGAGCAc	p.91_92insQE	WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382451.2_Intron|WDR1_ENST00000382452.2_In_Frame_Ins_p.91_92insQE			O75083	WDR1_HUMAN	WD repeat domain 1	91					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		ACTTCAACAGGTGCTCCTTCTG	0.589																																						uc021xlv.1																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(274-276)cac>caGGAGCAc		Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.																																				SO:0001652	inframe_insertion	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10100717_10100718insTGCTCC	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.270_275dupGGAGCA	4.37:g.10100718_10100723dupTGCTCC	ENSP00000427687:p.Glu91_His92insGlnGlu					WDR1_uc021xlw.1_Intron	p.91_92insQE	NM_017491	NP_059830	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	3	558_559	-			91					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	In_Frame_Ins	INS	ENST00000499869.2	37	c.275_276insGGAGCA	CCDS54740.1																																																																																				0.589	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1		
HCN1	348980	broad.mit.edu	37	5	45262443	45262443	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr5:45262443C>T	ENST00000303230.4	-	8	2310	c.2253G>A	c.(2251-2253)ccG>ccA	p.P751P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	751	Gln-rich.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCTGCGGGGACGgctgctgtg	0.637																																						uc003jok.3																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2251-2253)ccG>ccA		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							47.0	48.0	48.0					5																	45262443		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262443C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2253G>A	5.37:g.45262443C>T							p.P751P	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	2278	-			751			Gln-rich.			Silent	SNP	ENST00000303230.4	37	c.2253G>A	CCDS3952.1																																																																																				0.637	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
KCNN2	3781	broad.mit.edu	37	5	113740368	113740368	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr5:113740368C>T	ENST00000512097.3	+	4	1834	c.816C>T	c.(814-816)gtC>gtT	p.V272V	KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Silent_p.V272V			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	272					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	TTGCCAGAGTCATGCTTTTAC	0.393																																						uc003kqo.3																			0		p.V272A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(814-816)gtC>gtT		Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.							134.0	132.0	133.0					5																	113740368		2202	4300	6502	SO:0001819	synonymous_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113740368C>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.816C>T	5.37:g.113740368C>T							p.V272V	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1273	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	272					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	c.816C>T	CCDS4114.1																																																																																				0.393	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614	
MAT2B	27430	broad.mit.edu	37	5	162932707	162932707	+	Silent	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr5:162932707G>A	ENST00000321757.6	+	1	154	c.15G>A	c.(13-15)gaG>gaA	p.E5E	MAT2B_ENST00000280969.5_Intron|MAT2B_ENST00000518095.1_Silent_p.E5E	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	5					cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	TGGGGCGGGAGAAAGAGCTCT	0.706											OREG0017003	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003lzk.3																			0		p.M4I(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14						c.(13-15)gaG>gaA		Homo sapiens methionine adenosyltransferase II, beta (MAT2B), transcript variant 1, mRNA.	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						33.0	26.0	29.0					5																	162932707		2186	4292	6478	SO:0001819	synonymous_variant	27430				extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	g.chr5:162932707G>A	AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	6905	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 23E, member 1"""	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379	ENST00000321757.6:c.15G>A	5.37:g.162932707G>A			OREG0017003	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1828	MAT2B_uc003lzj.3_Intron|MAT2B_uc003lzl.1_Silent_p.E5E	p.E5E	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	0	123	+	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	5					B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	Silent	SNP	ENST00000321757.6	37	c.15G>A	CCDS4365.1																																																																																				0.706	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252749.2	NM_013283	
SLC17A1	6568	broad.mit.edu	37	6	25819769	25819769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr6:25819769G>A	ENST00000244527.4	-	5	614	c.499C>T	c.(499-501)Cga>Tga	p.R167*	SLC17A1_ENST00000427328.1_Nonsense_Mutation_p.R167*|SLC17A1_ENST00000476801.1_Nonsense_Mutation_p.R167*|SLC17A1_ENST00000468082.1_Nonsense_Mutation_p.R167*	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	167					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AGTCGGCCTCGTTCCAGGGGA	0.398																																						uc003nfh.4																			0		p.R167L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						c.(499-501)Cga>Tga		Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.							78.0	83.0	82.0					6																	25819769		2203	4300	6503	SO:0001587	stop_gained	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25819769G>A		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.499C>T	6.37:g.25819769G>A	ENSP00000244527:p.Arg167*					SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.R167*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.R165*	p.R167*	NM_005074	NP_005065	Q14916	NPT1_HUMAN			4	615	-			167					A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Nonsense_Mutation	SNP	ENST00000244527.4	37	c.499C>T	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.740603	0.49045	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	.	.	.	4.86	2.97	0.34412	.	0.413848	0.17806	N	0.161377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2352	0.43280	0.0:0.0:0.6412:0.3588	.	.	.	.	X	167	.	ENSP00000244527:R167X	R	-	1	2	SLC17A1	25927748	0.003000	0.15002	0.035000	0.18076	0.031000	0.12232	0.020000	0.13466	0.514000	0.28300	0.650000	0.86243	CGA		0.398	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2		
PGBD1	84547	broad.mit.edu	37	6	28269724	28269724	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr6:28269724G>A	ENST00000405948.2	+	7	2513	c.2093G>A	c.(2092-2094)tGc>tAc	p.C698Y	PGBD1_ENST00000259883.3_Missense_Mutation_p.C698Y	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	698						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATCAGTCTGTGCTCCAATGCT	0.388																																						uc003nky.3																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(2092-2094)tGc>tAc		Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.							178.0	173.0	175.0					6																	28269724		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269724G>A	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.2093G>A	6.37:g.28269724G>A	ENSP00000385213:p.Cys698Tyr					PGBD1_uc003nkz.3_Missense_Mutation_p.C698Y	p.C698Y	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			6	2513	+			698					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.2093G>A	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890842	0.52014	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.18174	2.23;2.23	4.1	4.1	0.47936	.	0.513144	0.16161	N	0.226741	T	0.23330	0.0564	L	0.51422	1.61	0.32219	N	0.575542	D	0.62365	0.991	D	0.72075	0.976	T	0.01152	-1.1435	10	0.66056	D	0.02	-24.0307	12.0452	0.53475	0.0:0.0:1.0:0.0	.	698	Q96JS3	PGBD1_HUMAN	Y	698	ENSP00000385213:C698Y;ENSP00000259883:C698Y	ENSP00000259883:C698Y	C	+	2	0	PGBD1	28377703	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.535000	0.45685	2.286000	0.76751	0.591000	0.81541	TGC		0.388	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2		
TREML2	79865	broad.mit.edu	37	6	41166020	41166020	+	Missense_Mutation	SNP	G	G	A	rs386700523		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr6:41166020G>A	ENST00000483722.1	-	2	388	c.203C>T	c.(202-204)gCc>gTc	p.A68V		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	68	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGACTCGGGCAAAGCCAGG	0.572																																						uc010jxm.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(202-204)gCc>gTc		Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.							132.0	130.0	131.0					6																	41166020		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41166020G>A	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.203C>T	6.37:g.41166020G>A	ENSP00000418767:p.Ala68Val						p.A68V	NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN			1	382	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		68			Ig-like V-type.		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.203C>T	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	7.073	0.568641	0.13560	.	.	ENSG00000112195	ENST00000483722	T	0.65732	-0.17	4.75	1.43	0.22495	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.870478	0.09855	N	0.747087	T	0.25382	0.0617	N	0.12182	0.205	0.21220	N	0.999756	B	0.30146	0.27	B	0.28385	0.089	T	0.27739	-1.0065	10	0.66056	D	0.02	-2.4265	12.5187	0.56046	0.0:0.6053:0.3947:0.0	.	68	Q5T2D2	TRML2_HUMAN	V	68	ENSP00000418767:A68V	ENSP00000418767:A68V	A	-	2	0	TREML2	41273998	0.099000	0.21834	0.343000	0.25615	0.014000	0.08584	0.177000	0.16801	0.482000	0.27582	0.563000	0.77884	GCC		0.572	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807	
RPF2	84154	broad.mit.edu	37	6	111329240	111329240	+	Splice_Site	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr6:111329240G>A	ENST00000441448.2	+	7	485		c.e7-1		RNU6-906P_ENST00000384700.1_RNA	NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)							nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TTTTTTTTTAGAACAGTAAAT	0.259																																						uc003pun.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						c.e7-1		Homo sapiens ribosome production factor 2 homolog (S. cerevisiae) (RPF2), mRNA.							32.0	37.0	35.0					6																	111329240		2202	4297	6499	SO:0001630	splice_region_variant	84154					nucleolus	protein binding	g.chr6:111329240G>A	AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.394-1G>A	6.37:g.111329240G>A						RPF2_uc003puo.3_Splice_Site_p.N69_splice	p.N132_splice	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN			7	413	+			132			Brix.		Q5VXN1|Q8N4A1	Splice_Site	SNP	ENST00000441448.2	37	c.394_splice	CCDS5088.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228199	0.58777	.	.	ENSG00000197498	ENST00000441448;ENST00000368864;ENST00000425871	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3904	0.87428	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPF2	111435933	1.000000	0.71417	0.988000	0.46212	0.770000	0.43624	8.216000	0.89764	2.270000	0.75569	0.557000	0.71058	.		0.259	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194	Intron
AKAP9	10142	broad.mit.edu	37	7	91674419	91674419	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:91674419C>T	ENST00000359028.2	+	22	5521	c.5296C>T	c.(5296-5298)Ctt>Ttt	p.L1766F	AKAP9_ENST00000356239.3_Missense_Mutation_p.L1754F|AKAP9_ENST00000358100.2_Missense_Mutation_p.L1766F			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1766					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCGCCATGTCCTTGGGATTCT	0.423			T	BRAF	papillary thyroid																																	uc003ulg.3				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(5260-5262)Ctt>Ttt		Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.							113.0	115.0	114.0					7																	91674419		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91674419C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5296C>T	7.37:g.91674419C>T	ENSP00000351922:p.Leu1766Phe					AKAP9_uc003ulf.3_Missense_Mutation_p.L1754F|AKAP9_uc003uli.3_Missense_Mutation_p.L1379F	p.L1754F	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	5485	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1766					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.5260C>T		.	.	.	.	.	.	.	.	.	.	C	15.30	2.793502	0.50102	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.03553	3.9;3.9;3.89	4.54	4.54	0.55810	.	0.000000	0.37393	N	0.002109	T	0.15825	0.0381	M	0.71581	2.175	0.43868	D	0.996471	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.997	T	0.00423	-1.1748	10	0.38643	T	0.18	.	14.4235	0.67200	0.0:0.8518:0.1482:0.0	.	1766;1754;1754	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	F	1754;1766;1766;1766	ENSP00000348573:L1754F;ENSP00000351922:L1766F;ENSP00000350813:L1766F	ENSP00000348573:L1754F	L	+	1	0	AKAP9	91512355	0.898000	0.30612	1.000000	0.80357	0.996000	0.88848	1.301000	0.33447	2.520000	0.84964	0.650000	0.86243	CTT		0.423	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
PPP1R3A	5506	broad.mit.edu	37	7	113519263	113519263	+	Silent	SNP	A	A	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:113519263A>G	ENST00000284601.3	-	4	1952	c.1884T>C	c.(1882-1884)aaT>aaC	p.N628N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	628					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAAGATAATCATTCCTCAAAA	0.388																																						uc010ljy.1																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1882-1884)aaT>aaC		Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.							82.0	80.0	81.0					7																	113519263		2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519263A>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1884T>C	7.37:g.113519263A>G							p.N628N	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			3	1915	-			628					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.1884T>C	CCDS5759.1																																																																																				0.388	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
TRPV6	55503	broad.mit.edu	37	7	142573411	142573411	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:142573411G>A	ENST00000359396.3	-	8	1177	c.932C>T	c.(931-933)aCg>aTg	p.T311M	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	311					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTTCACCGGCGTCTGGTCCAG	0.592																																						uc003wbx.2																			0		p.Q310E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(931-933)aCg>aTg		Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.							69.0	73.0	72.0					7																	142573411		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142573411G>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.932C>T	7.37:g.142573411G>A	ENSP00000352358:p.Thr311Met					TRPV6_uc003wbw.1_Missense_Mutation_p.T97M|TRPV6_uc010lou.1_Missense_Mutation_p.T182M	p.T311M	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			7	1161	-	Melanoma(164;0.059)		311					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.932C>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694303	0.88830	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.42900	0.96	4.71	4.71	0.59529	.	0.048712	0.85682	D	0.000000	T	0.70298	0.3208	M	0.90019	3.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.72625	0.978	T	0.76302	-0.3009	10	0.51188	T	0.08	-19.2089	16.8604	0.86016	0.0:0.0:1.0:0.0	.	311	Q9H1D0	TRPV6_HUMAN	M	311;143	ENSP00000352358:T311M	ENSP00000310825:T143M	T	-	2	0	TRPV6	142283533	1.000000	0.71417	0.957000	0.39632	0.939000	0.58152	7.622000	0.83099	2.458000	0.83093	0.655000	0.94253	ACG		0.592	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	
OR2F1	26211	broad.mit.edu	37	7	143657660	143657660	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:143657660C>T	ENST00000392899.1	+	1	634	c.597C>T	c.(595-597)atC>atT	p.I199I	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	199					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGGTCACCATCATGGTGTCTA	0.478																																						uc003wds.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34						c.(595-597)atC>atT		Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.							220.0	193.0	202.0					7																	143657660		2203	4300	6503	SO:0001819	synonymous_variant	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657660C>T	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.597C>T	7.37:g.143657660C>T							p.I199I	NM_012369	NP_036501	Q13607	OR2F1_HUMAN			0	641	+	Melanoma(164;0.0903)		199					A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Silent	SNP	ENST00000392899.1	37	c.597C>T	CCDS5887.1																																																																																				0.478	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1		
CNTNAP2	26047	broad.mit.edu	37	7	146741054	146741054	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:146741054C>T	ENST00000361727.3	+	4	974	c.458C>T	c.(457-459)cCg>cTg	p.P153L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	153	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTACAGCATCCGATTATTGCC	0.423										HNSCC(39;0.1)																												uc003weu.2																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(457-459)cCg>cTg		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.							182.0	158.0	166.0					7																	146741054		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146741054C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.458C>T	7.37:g.146741054C>T	ENSP00000354778:p.Pro153Leu	HNSCC(39;0.1)					p.P153L	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		3	974	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	153			F5/8 type C.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.458C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	8.688	0.906809	0.17833	.	.	ENSG00000174469	ENST00000361727	D	0.98150	-4.75	5.37	5.37	0.77165	Concanavalin A-like lectin/glucanase (1);Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.417749	0.19905	N	0.103424	D	0.98226	0.9413	H	0.98005	4.125	0.27927	N	0.938043	B	0.27351	0.176	B	0.27608	0.081	D	0.95837	0.8863	10	0.87932	D	0	.	12.746	0.57281	0.1643:0.8357:0.0:0.0	.	153	Q9UHC6	CNTP2_HUMAN	L	153	ENSP00000354778:P153L	ENSP00000354778:P153L	P	+	2	0	CNTNAP2	146371987	0.000000	0.05858	0.118000	0.21660	0.045000	0.14185	0.828000	0.27435	2.512000	0.84698	0.462000	0.41574	CCG		0.423	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
DLC1	10395	broad.mit.edu	37	8	12946050	12946050	+	Missense_Mutation	SNP	T	T	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:12946050T>C	ENST00000276297.4	-	16	4647	c.4238A>G	c.(4237-4239)cAg>cGg	p.Q1413R	DLC1_ENST00000520226.1_Missense_Mutation_p.Q902R|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Missense_Mutation_p.Q976R|DLC1_ENST00000512044.2_Missense_Mutation_p.Q1010R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1413	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTGGACATACTGGTAAATTTC	0.423																																						uc003wwm.2																			0		p.Y1412C(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(4237-4239)cAg>cGg		Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.							159.0	147.0	151.0					8																	12946050		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12946050T>C	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.4238A>G	8.37:g.12946050T>C	ENSP00000276297:p.Gln1413Arg					DLC1_uc003wwk.1_Missense_Mutation_p.Q976R|DLC1_uc003wwl.1_Missense_Mutation_p.Q1010R|DLC1_uc011kxx.1_Missense_Mutation_p.Q902R	p.Q1413R	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			15	4682	-			1413			START.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.4238A>G	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.693883	0.88735	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.9	4.9	0.64082	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	M	0.72894	2.215	0.80722	D	1	P;D;D	0.89917	0.873;1.0;0.998	P;D;D	0.78314	0.596;0.99;0.991	T	0.57481	-0.7804	10	0.56958	D	0.05	.	15.0149	0.71576	0.0:0.0:0.0:1.0	.	1413;1010;976	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	R	1413;976;352;1010;902	ENSP00000276297:Q1413R;ENSP00000351797:Q976R;ENSP00000422595:Q1010R;ENSP00000428028:Q902R	ENSP00000276297:Q1413R	Q	-	2	0	DLC1	12990421	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.668000	0.83897	2.182000	0.69389	0.528000	0.53228	CAG		0.423	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
ADAM2	2515	broad.mit.edu	37	8	39607192	39607192	+	Silent	SNP	A	A	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:39607192A>G	ENST00000265708.4	-	17	1972	c.1869T>C	c.(1867-1869)gaT>gaC	p.D623D	ADAM2_ENST00000379853.2_Silent_p.D467D|ADAM2_ENST00000521880.1_Silent_p.D560D|ADAM2_ENST00000347580.4_Silent_p.D604D	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	623	EGF-like.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTACACCTCTATCATTGCATT	0.368																																						uc003xnj.3																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1867-1869)gaT>gaC		Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.							155.0	142.0	146.0					8																	39607192		2203	4300	6503	SO:0001819	synonymous_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39607192A>G	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1869T>C	8.37:g.39607192A>G						ADAM2_uc003xnk.3_Silent_p.D604D|ADAM2_uc011lck.2_Silent_p.D560D|ADAM2_uc003xnl.3_Silent_p.D467D	p.D623D	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	16	1944	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	623			EGF-like.		P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	c.1869T>C	CCDS34884.1																																																																																				0.368	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	
TTPA	7274	broad.mit.edu	37	8	63985639	63985639	+	Silent	SNP	T	T	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:63985639T>C	ENST00000260116.4	-	2	244	c.213A>G	c.(211-213)aaA>aaG	p.K71K	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	71					embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	TATAATAGTTTTTTAGTAACT	0.338																																						uc003xux.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15						c.(211-213)aaA>aaG		Homo sapiens tocopherol (alpha) transfer protein (TTPA), mRNA.	Vitamin E(DB00163)						59.0	60.0	59.0					8																	63985639		2203	4300	6503	SO:0001819	synonymous_variant	7274				lipid metabolic process		transporter activity|vitamin E binding	g.chr8:63985639T>C	BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.213A>G	8.37:g.63985639T>C							p.K71K	NM_000370	NP_000361	P49638	TTPA_HUMAN			1	245	-	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)	71					Q71V64	Silent	SNP	ENST00000260116.4	37	c.213A>G	CCDS6178.1																																																																																				0.338	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378460.1	NM_000370	
REXO1L1P	254958	broad.mit.edu	37	8	86567341	86567341	+	IGR	SNP	G	G	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:86567341G>T	ENST00000379010.2	-	0	7032					NM_172239.4	NP_758439.4														endometrium(1)|lung(4)	5						ACGCGGGTCAGCTCCAGGCCA	0.567																																						uc003ydl.1																			0				endometrium(1)|lung(4)	5						c.(478-480)Ctg>Atg		Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.																																				SO:0001628	intergenic_variant	254958					cytoplasm|nucleus	exonuclease activity|nucleic acid binding	g.chr8:86567341G>T																													8.37:g.86567341G>T							p.L160M	NM_172239	NP_758439	Q8IX06	GOR_HUMAN			0	565	-			517						Missense_Mutation	SNP	ENST00000379010.2	37	c.478C>A																																																																																					0.567	REXO1L1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381106.1		
RIMS2	9699	broad.mit.edu	37	8	105263256	105263256	+	Silent	SNP	G	G	A	rs143698299		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:105263256G>A	ENST00000436393.2	+	27	3991	c.3750G>A	c.(3748-3750)ccG>ccA	p.P1250P	RIMS2_ENST00000339750.2_Silent_p.P168P|RIMS2_ENST00000406091.3_Silent_p.P1232P|RIMS2_ENST00000507740.1_Silent_p.P1046P|RIMS2_ENST00000262231.10_Silent_p.P1071P			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1294					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCAAGCACCGTATGTAAAAG	0.408										HNSCC(12;0.0054)			A|||	1	0.000199681	0.0	0.0	5008	,	,		18235	0.0		0.001	False		,,,				2504	0.0					uc003yls.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(3748-3750)ccG>ccA		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.		A	,	1,3745		0,1,1872	102.0	89.0	93.0		3696,3138	-10.7	0.0	8	dbSNP_134	93	1,8231		0,1,4115	no	coding-synonymous,coding-synonymous	RIMS2	NM_001100117.2,NM_014677.4	,	0,2,5987	AA,AG,GG		0.0121,0.0267,0.0167	,	1232/1350,1046/1164	105263256	2,11976	1873	4116	5989	SO:0001819	synonymous_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105263256G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3750G>A	8.37:g.105263256G>A		HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Silent_p.P1232P|RIMS2_uc003ylw.2_Silent_p.P1239P|RIMS2_uc003ylq.3_Silent_p.P1046P|RIMS2_uc003ylr.3_Silent_p.P1071P	p.P1250P	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		26	3991	+			1294					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37	c.3750G>A																																																																																					0.408	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
CPSF1	29894	broad.mit.edu	37	8	145624415	145624415	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:145624415G>A	ENST00000349769.3	-	16	1575	c.1481C>T	c.(1480-1482)cCc>cTc	p.P494L	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	494					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTCCGGCTCGGGGCTGTTCTG	0.692																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1480-1482)cCc>cTc		Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.							13.0	13.0	13.0					8																	145624415		2195	4287	6482	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145624415G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1481C>T	8.37:g.145624415G>A	ENSP00000339353:p.Pro494Leu						p.P494L	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		15	1556	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		494					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.1481C>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065166	0.55432	.	.	ENSG00000071894	ENST00000349769	T	0.41065	1.01	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	L	0.40543	1.245	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.12477	-1.0546	10	0.14656	T	0.56	-14.9985	16.5721	0.84615	0.0:0.0:1.0:0.0	.	494	Q10570	CPSF1_HUMAN	L	494	ENSP00000339353:P494L	ENSP00000339353:P494L	P	-	2	0	CPSF1	145595223	1.000000	0.71417	0.974000	0.42286	0.718000	0.41266	5.564000	0.67359	2.522000	0.85027	0.561000	0.74099	CCC		0.692	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291	
SPATA31A7	26165	broad.mit.edu	37	9	65507531	65507531	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr9:65507531G>A	ENST00000355045.2	-	3	312	c.284C>T	c.(283-285)tCg>tTg	p.S95L	SPATA31A7_ENST00000491812.2_5'UTR	NM_015667.2	NP_056482.2	Q8IWB4	S31A7_HUMAN	SPATA31 subfamily A, member 7	95					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAGCAGGTCCGAAGTCTCCTC	0.627																																						uc004adx.4																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						c.(283-285)tCg>tTg		Homo sapiens family with sequence similarity 75, member A7 (FAM75A7), mRNA.							23.0	26.0	25.0					9																	65507531		980	2421	3401	SO:0001583	missense	727905					integral to membrane		g.chr9:65507531G>A		CCDS75838.1	9q12	2014-04-11	2012-10-12	2012-10-12	ENSG00000234734	ENSG00000276040			32007	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A7"""	FAM75A7		20850414	Standard	NM_015667		Approved	OTTHUMG00000013196		Q8IWB4	OTTHUMG00000188536	ENST00000355045.2:c.284C>T	9.37:g.65507531G>A	ENSP00000347153:p.Ser95Leu						p.S95L	NM_015667	NP_056482	Q8IWB4	F75A7_HUMAN			2	313	-			95					Q5TZK4|Q9Y4Q5	Missense_Mutation	SNP	ENST00000355045.2	37	c.284C>T	CCDS43825.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.834394	0.00579	.	.	ENSG00000234734	ENST00000355045	T	0.03745	3.82	1.58	-3.15	0.05233	.	3.286340	0.00937	N	0.002794	T	0.01287	0.0042	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42103	-0.9471	10	0.25751	T	0.34	.	0.6768	0.00868	0.1749:0.2373:0.1736:0.4142	.	95	Q8IWB4	F75A7_HUMAN	L	95	ENSP00000347153:S95L	ENSP00000347153:S95L	S	-	2	0	FAM75A7	65247351	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-5.715000	0.00103	-1.950000	0.01030	-3.555000	0.00030	TCG		0.627	SPATA31A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036952.1	NM_015667	
PGM5	5239	broad.mit.edu	37	9	70999452	70999452	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr9:70999452C>A	ENST00000396396.1	+	3	792	c.563C>A	c.(562-564)cCa>cAa	p.P188Q	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.P188Q	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	188					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						AAATTCAAACCATTCAGAGGT	0.378																																						uc004agr.3																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(562-564)cCa>cAa		Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.							57.0	56.0	57.0					9																	70999452		2203	4299	6502	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:70999452C>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.563C>A	9.37:g.70999452C>A	ENSP00000379678:p.Pro188Gln						p.P188Q	NM_021965	NP_068800	Q15124	PGM5_HUMAN			2	792	+			188					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.563C>A	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	17.15	3.316067	0.60524	.	.	ENSG00000154330	ENST00000396396;ENST00000396392	T;T	0.62941	-0.01;-0.01	4.36	4.36	0.52297	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.115767	0.64402	U	0.000015	T	0.66548	0.2800	L	0.29908	0.895	0.80722	D	1	D	0.63046	0.992	P	0.61722	0.893	T	0.68731	-0.5331	10	0.46703	T	0.11	.	16.0032	0.80310	0.0:1.0:0.0:0.0	.	188	Q15124	PGM5_HUMAN	Q	188	ENSP00000379678:P188Q;ENSP00000379674:P188Q	ENSP00000379674:P188Q	P	+	2	0	PGM5	70189272	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.647000	0.83462	2.108000	0.64289	0.573000	0.79308	CCA		0.378	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965	
WNK2	65268	broad.mit.edu	37	9	96079849	96079849	+	Silent	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr9:96079849G>A	ENST00000297954.4	+	29	6675	c.6675G>A	c.(6673-6675)gcG>gcA	p.A2225A	WNK2_ENST00000427277.2_Silent_p.A1800A|WNK2_ENST00000395477.2_Silent_p.A2188A|WNK2_ENST00000471076.1_3'UTR|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000349097.3_Silent_p.A1837A|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2225					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGCCCCCAGCGCCCGGCCCTC	0.647																																						uc004ati.1																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(6673-6675)gcG>gcA		Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.							71.0	64.0	67.0					9																	96079849		2203	4300	6503	SO:0001819	synonymous_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96079849G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6675G>A	9.37:g.96079849G>A						WNK2_uc011lud.1_Silent_p.A2188A|WNK2_uc004atj.3_Silent_p.A2188A|WNK2_uc004atk.3_Silent_p.A1713A	p.A2225A	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			28	6675	+			2225					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37	c.6675G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	1.105|1.105	-0.659938|-0.659938	0.03454|0.03454	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730;ENST00000448251	T|.	0.61859|.	0.07|.	5.8|5.8	-7.3|-7.3	0.01446|0.01446	.|.	0.891771|.	0.09390|.	N|.	0.808668|.	T|T	0.28167|0.28167	0.0695|0.0695	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.31447|0.31447	-0.9943|-0.9943	7|4	0.23891|.	T|.	0.37|.	.|.	9.7361|9.7361	0.40388|0.40388	0.5466:0.0949:0.3585:0.0|0.5466:0.0949:0.3585:0.0	.|.	.|.	.|.	.|.	T|H	1680|2184;985	ENSP00000414622:A1680T|.	ENSP00000414622:A1680T|.	A|R	+|+	1|2	0|0	WNK2|WNK2	95119670|95119670	0.061000|0.061000	0.20836|0.20836	0.000000|0.000000	0.03702|0.03702	0.030000|0.030000	0.12068|0.12068	0.288000|0.288000	0.18939|0.18939	-2.221000|-2.221000	0.00728|0.00728	-0.753000|-0.753000	0.03488|0.03488	GCC|CGC		0.647	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648	
CHDC2	286464	broad.mit.edu	37	X	36103466	36103466	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:36103466C>T	ENST00000313548.4	+	5	638	c.452C>T	c.(451-453)tCg>tTg	p.S151L		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	151						integral component of membrane (GO:0016021)											TCATCAACCTCGCCACCCCAA	0.338																																						uc004ddk.1																			0		p.S151S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						c.(451-453)tCg>tTg		Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.							83.0	82.0	82.0					X																	36103466		2202	4300	6502	SO:0001583	missense	286464					integral to membrane		g.chrX:36103466C>T	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.452C>T	X.37:g.36103466C>T	ENSP00000324767:p.Ser151Leu						p.S151L	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			4	638	+			151						Missense_Mutation	SNP	ENST00000313548.4	37	c.452C>T	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	C	8.867	0.948452	0.18356	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.25	-2.54	0.06307	.	1.579760	0.03966	N	0.290871	T	0.16769	0.0403	N	0.12182	0.205	0.09310	N	1	B	0.23490	0.086	B	0.12156	0.007	T	0.06661	-1.0814	9	0.33141	T	0.24	-0.532	0.5047	0.00585	0.2557:0.2902:0.1237:0.3304	.	151	Q8N9S7	CX059_HUMAN	L	151	.	ENSP00000324767:S151L	S	+	2	0	CXorf59	36013387	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.078000	0.14761	-0.850000	0.04152	-0.190000	0.12839	TCG		0.338	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695	
FAM47C	442444	broad.mit.edu	37	X	37028621	37028621	+	Missense_Mutation	SNP	G	G	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:37028621G>T	ENST00000358047.3	+	1	2190	c.2138G>T	c.(2137-2139)aGt>aTt	p.S713I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	713										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGGGTGTCCAGTCTCCACGCG	0.647																																						uc004ddl.2																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2137-2139)aGt>aTt		Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.							46.0	45.0	45.0					X																	37028621		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37028621G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2138G>T	X.37:g.37028621G>T	ENSP00000367913:p.Ser713Ile						p.S713I	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			0	2190	+			713					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2138G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	5.235	0.228865	0.09916	.	.	ENSG00000198173	ENST00000358047	T	0.19938	2.11	0.99	-1.98	0.07480	.	.	.	.	.	T	0.18509	0.0444	L	0.43923	1.385	0.09310	N	1	P	0.40332	0.713	B	0.44315	0.446	T	0.10706	-1.0618	9	0.37606	T	0.19	.	4.8992	0.13766	0.1982:0.2179:0.5839:0.0	.	713	Q5HY64	FA47C_HUMAN	I	713	ENSP00000367913:S713I	ENSP00000367913:S713I	S	+	2	0	FAM47C	36938542	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.869000	0.00721	-2.348000	0.00619	-2.405000	0.00223	AGT		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
DGKK	139189	broad.mit.edu	37	X	50146548	50146548	+	RNA	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:50146548C>A	ENST00000376025.2	-	0	1185							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.D172N(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CACTTGCAGTCTTTGCTTGCT	0.458																																						uc010njr.2																			1	Substitution - Missense(1)	p.D172N(1)	large_intestine(1)	central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1126-1128)Gac>Tac		Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.							138.0	135.0	136.0					X																	50146548		1960	4156	6116			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50146548C>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50146548C>A							p.D376Y	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			5	1170	-	Ovarian(276;0.236)		376					B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37	c.1126G>T																																																																																					0.458	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742	
MED12	9968	broad.mit.edu	37	X	70342412	70342412	+	Missense_Mutation	SNP	G	G	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:70342412G>C	ENST00000374080.3	+	9	1335	c.1303G>C	c.(1303-1305)Gtt>Ctt	p.V435L	MED12_ENST00000333646.6_Missense_Mutation_p.V435L|MED12_ENST00000374102.1_Missense_Mutation_p.V435L			Q93074	MED12_HUMAN	mediator complex subunit 12	435					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGACAGGCAGTTGAAGTTCG	0.468			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.3				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(1303-1305)Gtt>Ctt		Homo sapiens mediator complex subunit 12 (MED12), mRNA.							69.0	67.0	68.0					X																	70342412		1963	4142	6105	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70342412G>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1303G>C	X.37:g.70342412G>C	ENSP00000363193:p.Val435Leu					MED12_uc011mpq.1_Missense_Mutation_p.V435L|MED12_uc004dyz.3_Missense_Mutation_p.V435L|MED12_uc004dza.3_Missense_Mutation_p.V282L|MED12_uc022byq.1_5'Flank	p.V435L	NM_005120	NP_005111	Q93074	MED12_HUMAN			8	1502	+	Renal(35;0.156)		435					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.1303G>C	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.097731	0.76870	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	4.85	4.85	0.62838	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.63546	0.2520	M	0.81942	2.565	0.80722	D	1	D;P;D;D	0.67145	0.994;0.951;0.996;0.995	D;P;D;D	0.85130	0.914;0.755;0.997;0.965	T	0.69661	-0.5085	10	0.72032	D	0.01	-12.4808	17.2392	0.87008	0.0:0.0:1.0:0.0	.	435;282;435;435	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	L	435;435;435;435;403	ENSP00000333125:V435L;ENSP00000363215:V435L;ENSP00000363193:V435L;ENSP00000414203:V403L	ENSP00000333125:V435L	V	+	1	0	MED12	70259137	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.983000	0.93477	2.251000	0.74343	0.502000	0.49764	GTT		0.468	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	
FGF16	8823	broad.mit.edu	37	X	76711875	76711875	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:76711875C>T	ENST00000439435.1	+	2	212	c.212C>T	c.(211-213)aCg>aTg	p.T71M				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of brown fat cell proliferation (GO:0070349)|response to temperature stimulus (GO:0009266)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(1)|lung(2)	4						GACAGTATTACGTGGCCCTGA	0.463																																						uc011mqp.2																			0				NS(1)|breast(1)|lung(2)	4						c.(211-213)taC>taT		Homo sapiens fibroblast growth factor 16 (FGF16), mRNA.							96.0	91.0	93.0					X																	76711875		1900	4122	6022	SO:0001583	missense	8823				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity	g.chrX:76711875C>T	AB009391	CCDS75996.1	Xq21.1	2014-01-31			ENSG00000196468	ENSG00000196468			3672	protein-coding gene	gene with protein product		300827	"""metacarpal 4-5 fusion"""	MF4		9473496, 11474196, 23709756	Standard	NM_003868		Approved		uc011mqp.2	O43320	OTTHUMG00000013133	ENST00000439435.1:c.212C>T	X.37:g.76711875C>T	ENSP00000399324:p.Thr71Met						p.Y71Y	NM_003868	NP_003859	O43320	FGF16_HUMAN			1	213	+			162						Silent	SNP	ENST00000439435.1	37	c.213C>T		.	.	.	.	.	.	.	.	.	.	C	2.002	-0.429243	0.04701	.	.	ENSG00000196468	ENST00000439435	.	.	.	5.4	1.86	0.25419	.	.	.	.	.	T	0.40791	0.1131	.	.	.	.	.	.	.	.	.	.	.	.	T	0.48603	-0.9021	3	.	.	.	.	6.9713	0.24650	0.0:0.3999:0.0:0.6001	.	.	.	.	M	71	.	.	T	+	2	0	FGF16	76598531	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	0.683000	0.25349	0.699000	0.31761	-0.340000	0.08031	ACG		0.463	FGF16-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036814.1	NM_003868	
ATP7A	538	broad.mit.edu	37	X	77264612	77264612	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:77264612C>T	ENST00000341514.6	+	7	1876	c.1721C>T	c.(1720-1722)aCg>aTg	p.T574M	ATP7A_ENST00000343533.5_Missense_Mutation_p.T574M|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	574	HMA 6. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.T574M(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AGGGGAATGACGTGTGCCTCC	0.388																																						uc004ecx.4																			2	Substitution - Missense(2)	p.T574M(3)	endometrium(2)	breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(1720-1722)aCg>aTg		Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.							188.0	188.0	188.0					X																	77264612		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77264612C>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1721C>T	X.37:g.77264612C>T	ENSP00000345728:p.Thr574Met					ATP7A_uc004ecw.2_Missense_Mutation_p.T574M	p.T574M	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			6	1881	+			574			HMA 6.		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.1721C>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285399	0.80803	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.87334	-2.24;-2.24	5.1	5.1	0.69264	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.95825	0.8641	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.989	D	0.97432	1.0016	10	0.87932	D	0	-7.0025	17.8114	0.88617	0.0:1.0:0.0:0.0	.	574;584	Q04656;Q59HD1	ATP7A_HUMAN;.	M	574;574;584	ENSP00000343026:T574M;ENSP00000345728:T574M	ENSP00000345728:T574M	T	+	2	0	ATP7A	77151268	1.000000	0.71417	0.975000	0.42487	0.949000	0.60115	7.445000	0.80570	2.138000	0.66242	0.462000	0.41574	ACG		0.388	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052	
TAF7L	54457	broad.mit.edu	37	X	100531023	100531023	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:100531023C>A	ENST00000372907.3	-	11	1260	c.1249G>T	c.(1249-1251)Gat>Tat	p.D417Y	TAF7L_ENST00000324762.6_Missense_Mutation_p.D257Y|TAF7L_ENST00000372905.2_Missense_Mutation_p.D257Y|TAF7L_ENST00000356784.1_Missense_Mutation_p.D331Y	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	417					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ATGATGAGATCCTTCTGTCTT	0.353																																					Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1249-1251)Gat>Tat		Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.							194.0	160.0	172.0					X																	100531023		2203	4299	6502	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100531023C>A	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1249G>T	X.37:g.100531023C>A	ENSP00000361998:p.Asp417Tyr					TAF7L_uc004eha.3_Missense_Mutation_p.D257Y|TAF7L_uc004ehc.2_Missense_Mutation_p.D331Y	p.D417Y	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN			10	1275	-			417					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.1249G>T	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	c	15.07	2.725473	0.48833	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.25085	3.69;1.82;1.82;3.69	4.6	-6.23	0.02052	.	1.220760	0.05903	N	0.630304	T	0.26122	0.0637	M	0.67700	2.07	0.09310	N	1	P;P	0.47302	0.893;0.834	B;B	0.43445	0.342;0.42	T	0.29027	-1.0025	10	0.59425	D	0.04	0.0314	6.2873	0.21041	0.0:0.3734:0.2089:0.4177	.	417;257	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	Y	417;257;257;331	ENSP00000361998:D417Y;ENSP00000361996:D257Y;ENSP00000320283:D257Y;ENSP00000349235:D331Y	ENSP00000320283:D257Y	D	-	1	0	TAF7L	100417679	0.037000	0.19845	0.000000	0.03702	0.835000	0.47333	-0.358000	0.07641	-2.196000	0.00751	0.464000	0.42555	GAT		0.353	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2		
SRPK3	26576	broad.mit.edu	37	X	153050273	153050273	+	Silent	SNP	A	A	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:153050273A>G	ENST00000370101.3	+	12	1363	c.1317A>G	c.(1315-1317)gaA>gaG	p.E439E	IDH3G_ENST00000497043.1_5'Flank|SRPK3_ENST00000489426.1_Silent_p.E506E|SRPK3_ENST00000370104.1_Silent_p.E438E|SRPK3_ENST00000370100.1_Silent_p.E364E|SRPK3_ENST00000393786.3_Silent_p.E405E|SRPK3_ENST00000370108.3_Silent_p.E406E	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	439	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGGCGCCGAATACGGCCCCC	0.692																																					Esophageal Squamous(167;766 3400 32156)	uc004fik.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13						c.(1513-1515)gaA>gaG		Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.							36.0	36.0	36.0					X																	153050273		2200	4295	6495	SO:0001819	synonymous_variant	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153050273A>G	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.1317A>G	X.37:g.153050273A>G						SRPK3_uc004fim.3_Silent_p.E405E|SRPK3_uc004fil.3_Silent_p.E439E|SRPK3_uc004fin.3_Silent_p.E438E|SRPK3_uc010nul.3_Silent_p.E363E	p.E505E	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN			17	3940	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		439			Protein kinase.		Q13583|Q4F970|Q562F5|Q9UM62	Silent	SNP	ENST00000370101.3	37	c.1515A>G	CCDS35441.1	.	.	.	.	.	.	.	.	.	.	A	0.509	-0.867255	0.02590	.	.	ENSG00000184343	ENST00000458681	.	.	.	4.52	1.57	0.23409	.	.	.	.	.	T	0.50888	0.1642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37174	-0.9717	4	.	.	.	-29.3796	4.5375	0.12040	0.3019:0.2653:0.4328:0.0	.	.	.	.	V	39	.	.	I	+	1	0	SRPK3	152703467	0.218000	0.23608	0.469000	0.27204	0.007000	0.05969	-0.384000	0.07389	0.365000	0.24400	-0.693000	0.03709	ATA		0.692	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370	
MTCP1	4515	broad.mit.edu	37	X	154294043	154294043	+	Nonsense_Mutation	SNP	G	G	A	rs376244277		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:154294043G>A	ENST00000369476.3	-	3	706	c.127C>T	c.(127-129)Cga>Tga	p.R43*	MTCP1_ENST00000482244.1_5'UTR|CMC4_ENST00000369479.1_5'Flank|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000362018.2_Nonsense_Mutation_p.R43*	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	43					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCTGGACTCGTGCCCTTAGG	0.458			T	TRA@	T cell prolymphocytic leukemia																																	uc004fmz.2				Dom	yes		X	Xq28	4515	T	mature T-cell proliferation 1			L	TRA@		T cell prolymphocytic leukemia		0				large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(127-129)Cga>Tga		Homo sapiens mature T-cell proliferation 1 (MTCP1), nuclear gene encoding mitochondrial protein, mRNA.							85.0	80.0	82.0					X																	154294043		1988	4144	6132	SO:0001587	stop_gained	4515				cell proliferation			g.chrX:154294043G>A		CCDS44027.1	Xq28	2011-10-10			ENSG00000214827	ENSG00000214827			7423	protein-coding gene	gene with protein product		300116				8361760, 8634440, 9691281	Standard	NM_001018025		Approved	P13MTCP1, p8MTCP1	uc004fmz.2	P56278	OTTHUMG00000156241	ENST00000369476.3:c.127C>T	X.37:g.154294043G>A	ENSP00000358488:p.Arg43*					MTCP1NB_uc004fmy.3_Intron	p.R43*	NM_001018025	NP_001018025	P56278	MTCP1_HUMAN			2	753	-	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		43					Q5HYP2	Nonsense_Mutation	SNP	ENST00000369476.3	37	c.127C>T	CCDS44027.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886978	0.91814	.	.	ENSG00000214827	ENST00000369476;ENST00000362018	.	.	.	5.66	4.79	0.61399	.	0.137757	0.34291	N	0.004085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-8.0364	12.3107	0.54927	0.0:0.0:0.8306:0.1694	.	.	.	.	X	43	.	ENSP00000355058:R43X	R	-	1	2	MTCP1	153947237	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	4.380000	0.59581	1.257000	0.44085	-0.237000	0.12165	CGA		0.458	MTCP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058776.1	NM_001018025	
