#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
HNRNPCL1	343069	broad.mit.edu	37	1	12907709	12907709	+	Missense_Mutation	SNP	C	C	T	rs4026148		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:12907709C>T	ENST00000317869.6	-	2	659	c.434G>A	c.(433-435)cGt>cAt	p.R145H		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	145						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R145H(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TAGACGTTGACGTTTCGAGGG	0.483																																						uc010obf.2																			1	Substitution - Missense(1)	p.R145H(1)	endometrium(1)								c.(433-435)cGt>cAt		Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.							119.0	123.0	121.0					1																	12907709		2202	4299	6501	SO:0001583	missense	649330						nucleic acid binding|nucleotide binding	g.chr1:12907709C>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.434G>A	1.37:g.12907709C>T	ENSP00000365370:p.Arg145His					LOC649330_uc009vno.2_Missense_Mutation_p.R145H	p.R145H	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN			1	660	-			145					B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.434G>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	7.204	0.594122	0.13875	.	.	ENSG00000179172	ENST00000317869	T	0.17528	2.27	0.943	-1.24	0.09435	.	0.090746	0.39146	U	0.001453	T	0.13670	0.0331	M	0.64997	1.995	0.25247	N	0.989707	B	0.28636	0.218	B	0.26094	0.066	T	0.13176	-1.0519	10	0.54805	T	0.06	.	4.4164	0.11459	0.0:0.5144:0.0:0.4856	rs4026148	145	O60812	HNRCL_HUMAN	H	145	ENSP00000365370:R145H	ENSP00000365370:R145H	R	-	2	0	HNRNPCL1	12830296	1.000000	0.71417	0.000000	0.03702	0.003000	0.03518	3.319000	0.51983	-0.205000	0.10219	-0.482000	0.04802	CGT		0.483	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631	
HNRNPCL1	343069	broad.mit.edu	37	1	12907886	12907886	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:12907886G>A	ENST00000317869.6	-	2	482	c.257C>T	c.(256-258)gCa>gTa	p.A86V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	86	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TTTTGGCTCTGCAGCCAGGTT	0.488																																						uc010obf.2																			0											c.(256-258)gCa>gTa		Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.							126.0	126.0	126.0					1																	12907886		2203	4300	6503	SO:0001583	missense	649330						nucleic acid binding|nucleotide binding	g.chr1:12907886G>A	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.257C>T	1.37:g.12907886G>A	ENSP00000365370:p.Ala86Val					LOC649330_uc009vno.2_Missense_Mutation_p.A86V	p.A86V	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN			1	483	-			86					B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.257C>T	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.026608	0.35797	.	.	ENSG00000179172	ENST00000317869	T	0.40476	1.03	1.09	0.0897	0.14460	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.306697	0.23030	U	0.052742	T	0.20292	0.0488	N	0.12182	0.205	0.34094	D	0.661066	B	0.14012	0.009	B	0.16722	0.016	T	0.06679	-1.0813	10	0.41790	T	0.15	.	5.4367	0.16486	0.2228:0.0:0.7772:0.0	.	86	O60812	HNRCL_HUMAN	V	86	ENSP00000365370:A86V	ENSP00000365370:A86V	A	-	2	0	HNRNPCL1	12830473	0.220000	0.23631	0.550000	0.28217	0.004000	0.04260	-0.077000	0.11394	0.039000	0.15632	-0.482000	0.04802	GCA		0.488	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631	
HSPG2	3339	broad.mit.edu	37	1	22216489	22216489	+	Nonsense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:22216489G>A	ENST00000374695.3	-	6	638	c.559C>T	c.(559-561)Cga>Tga	p.R187*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	187	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCCAGGCGTCGGAACTGGAAT	0.612																																						uc009vqd.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(559-561)Cga>Tga		Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	Becaplermin(DB00102)|Palifermin(DB00039)						113.0	104.0	107.0					1																	22216489		2203	4300	6503	SO:0001587	stop_gained	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22216489G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.559C>T	1.37:g.22216489G>A	ENSP00000363827:p.Arg187*					HSPG2_uc001bfj.3_Nonsense_Mutation_p.R187*|HSPG2_uc009vqe.1_Silent_p.S85S	p.R187*	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	5	599	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	187			SEA.		Q16287|Q5SZI3|Q9H3V5	Nonsense_Mutation	SNP	ENST00000374695.3	37	c.559C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371172	0.82573	.	.	ENSG00000142798	ENST00000374695;ENST00000439717	.	.	.	5.53	4.56	0.56223	.	0.000000	0.32935	N	0.005480	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.393	0.60834	0.0:0.0:0.8338:0.1662	.	.	.	.	X	187;153	.	ENSP00000363827:R187X	R	-	1	2	HSPG2	22089076	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.924000	0.63418	2.879000	0.98667	0.650000	0.86243	CGA		0.612	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
SLC2A1	6513	broad.mit.edu	37	1	43396355	43396355	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:43396355C>T	ENST00000426263.3	-	4	636	c.458G>A	c.(457-459)cGt>cAt	p.R153H	SLC2A1_ENST00000372500.3_Missense_Mutation_p.R153H|SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	153			R -> C (in GLUT1DS1; 44% of wild-type glucose uptake activity). {ECO:0000269|PubMed:12325075, ECO:0000269|PubMed:15622525}.|R -> H (in GLUT1DS2). {ECO:0000269|PubMed:20129935}.		carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CAGGGCCCCACGAAGGGCTGT	0.647																																						uc001cik.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	GRCh37	CM077636	SLC2A1	M		c.(457-459)cGt>cAt		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	Etomidate(DB00292)						34.0	32.0	33.0					1																	43396355		2203	4300	6503	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43396355C>T	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.458G>A	1.37:g.43396355C>T	ENSP00000416293:p.Arg153His						p.R153H	NM_006516	NP_006507	P11166	GTR1_HUMAN			3	983	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	153		R -> C (in GLUT1DS1; 44% of wild-type glucose uptake activity).|R -> H (in GLUT1DS2).			A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.458G>A	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231153	0.95207	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000439722;ENST00000372500	D;D;D	0.82433	-1.61;-1.61;-1.61	5.49	5.49	0.81192	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95037	0.8393	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96970	0.9708	10	0.87932	D	0	.	16.8737	0.86046	0.0:1.0:0.0:0.0	.	153	P11166	GTR1_HUMAN	H	153;153;118;58;153	ENSP00000416293:R153H;ENSP00000395521:R58H;ENSP00000361578:R153H	ENSP00000361578:R153H	R	-	2	0	SLC2A1	43168942	1.000000	0.71417	0.786000	0.31890	0.993000	0.82548	7.480000	0.81109	2.572000	0.86782	0.542000	0.68232	CGT		0.647	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516	
CDKN2C	1031	broad.mit.edu	37	1	51439609	51439610	+	Frame_Shift_Ins	INS	-	-	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:51439609_51439610insA	ENST00000262662.1	+	4	2208_2209	c.174_175insA	c.(175-177)agafs	p.R59fs	CDKN2C_ENST00000396148.1_Frame_Shift_Ins_p.R59fs|CDKN2C_ENST00000371761.3_Frame_Shift_Ins_p.R59fs			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	59					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		GACTGCTACTTAGAGGTGCTAA	0.441			D		"""glioma, MM"""																																Melanoma(47;50 1155 4767 22863 47597)	uc001csf.3				Rec	yes		1	1p32	1031	D	"""cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"""			"""O, L"""			"""glioma, MM"""		12	Whole gene deletion(11)|Unknown(1)	p.0?(11)|p.?(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)	central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23						c.(172-177)cttagafs		Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	1031				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr1:51439609_51439610insA	BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"""Ankyrin repeat domain containing"""	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.175dupA	1.37:g.51439610_51439610dupA	ENSP00000262662:p.Arg59fs					CDKN2C_uc001csg.3_Frame_Shift_Ins_p.L58fs	p.L58fs	NM_001262	NP_523240	P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	2	2149_2150	+			58					Q8TB83	Frame_Shift_Ins	INS	ENST00000262662.1	37	c.174_175insA	CCDS555.1																																																																																				0.441	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262	
MTX1	4580	broad.mit.edu	37	1	155184421	155184421	+	IGR	SNP	G	G	A	rs577102665		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:155184421G>A	ENST00000368376.3	+	0	1632				GBAP1_ENST00000486869.1_RNA|RP11-263K19.6_ENST00000455788.1_RNA	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1						cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGTCCGGGTCGTTCTTCTGAC	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19188	0.0		0.0	False		,,,				2504	0.0					uc001fjd.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26						c.(1027-1029)aaC>aaT		Homo sapiens glucosidase, beta, acid pseudogene 1 (GBAP1), non-coding RNA.	Alglucerase(DB00088)|Imiglucerase(DB00053)																																			SO:0001628	intergenic_variant	2630	Gaucher disease type I			carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155184421G>A		CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708		1.37:g.155184421G>A						GBA_uc001fjf.4_Silent_p.N304N|GBA_uc001fje.4_Silent_p.N265N	p.N343N			P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		9	1173	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		481		Y -> C (in GD; type 2; 16% of normal activity; increases susceptibility to proteolytic degradation).			B1AVR9|B1AVS0|B2R9P4|Q9BUU3	Silent	SNP	ENST00000368376.3	37	c.1029C>T	CCDS1100.1																																																																																				0.582	MTX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086844.1	NM_198883	
GPR52	9293	broad.mit.edu	37	1	174417940	174417940	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:174417940C>T	ENST00000367685.2	+	1	729	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	231					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						CAAAATTTGCCGTCAGCACAC	0.463																																					Ovarian(92;924 1390 1930 16467 40583)	uc010pmu.1																			0				breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20								Synthetic construct Homo sapiens gateway clone IMAGE:100022628 3' read GPR52 mRNA.							196.0	181.0	186.0					1																	174417940		2203	4300	6503	SO:0001583	missense	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417940C>T	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.691C>T	1.37:g.174417940C>T	ENSP00000356658:p.Arg231Cys					RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron|GPR52_uc001gka.1_Missense_Mutation_p.R231C				Q9Y2T5	GPR52_HUMAN			0		-								O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	ENST00000367685.2	37	c.395G>A	CCDS30941.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410478	0.62399	.	.	ENSG00000203737	ENST00000367685	T	0.42900	0.96	6.16	6.16	0.99307	GPCR, rhodopsin-like superfamily (1);	0.089581	0.47093	D	0.000250	T	0.54983	0.1892	L	0.48174	1.505	0.49130	D	0.999757	D	0.89917	1.0	P	0.60173	0.87	T	0.53690	-0.8403	10	0.87932	D	0	-9.9631	15.5636	0.76269	0.1378:0.8622:0.0:0.0	.	231	Q9Y2T5	GPR52_HUMAN	C	231	ENSP00000356658:R231C	ENSP00000356658:R231C	R	+	1	0	GPR52	172684563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.562000	0.67346	2.937000	0.99478	0.650000	0.86243	CGT		0.463	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684	
KIF21B	23046	broad.mit.edu	37	1	200974537	200974537	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:200974537G>A	ENST00000422435.2	-	5	947	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	KIF21B_ENST00000461742.2_Missense_Mutation_p.R211C|KIF21B_ENST00000332129.2_Missense_Mutation_p.R211C|KIF21B_ENST00000360529.5_Missense_Mutation_p.R211C	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	211	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCTGTGGTGCGGGACAGGGCC	0.627																																						uc001gvs.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(631-633)Cgc>Tgc		Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.							104.0	94.0	97.0					1																	200974537		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200974537G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.631C>T	1.37:g.200974537G>A	ENSP00000411831:p.Arg211Cys					KIF21B_uc009wzl.2_Missense_Mutation_p.R211C|KIF21B_uc001gvr.2_Missense_Mutation_p.R211C|KIF21B_uc010ppn.2_Missense_Mutation_p.R211C|KIF21B_uc001gvt.1_5'UTR	p.R211C	NM_001252100	NP_001239029	O75037	KI21B_HUMAN			4	948	-			211			Kinesin-motor.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.631C>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481329	0.84747	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.25	5.25	0.73442	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.94699	0.8290	H	0.98833	4.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.997	D	0.96326	0.9240	10	0.87932	D	0	.	13.775	0.63048	0.0:0.0:0.8465:0.1535	.	211;211;211;211	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	C	211	ENSP00000328494:R211C;ENSP00000353724:R211C;ENSP00000433808:R211C;ENSP00000411831:R211C	ENSP00000328494:R211C	R	-	1	0	KIF21B	199241160	0.997000	0.39634	0.941000	0.38009	0.953000	0.61014	5.263000	0.65507	2.446000	0.82766	0.655000	0.94253	CGC		0.627	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332	
OR2T4	127074	broad.mit.edu	37	1	248525343	248525343	+	Missense_Mutation	SNP	G	G	A	rs141022739		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:248525343G>A	ENST00000366475.1	+	1	461	c.461G>A	c.(460-462)cGc>cAc	p.R154H		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	154						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(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|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;0.0265)			GCCTATGACCGCTACGTGGCC	0.522																																						uc001ieh.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(460-462)cGc>cAc		Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.		G	HIS/ARG	0,4406		0,0,2203	212.0	195.0	201.0		461	3.5	0.2	1	dbSNP_134	201	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR2T4	NM_001004696.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	154/349	248525343	1,13005	2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525343G>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.461G>A	1.37:g.248525343G>A	ENSP00000355431:p.Arg154His						p.R154H	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	461	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		154					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.461G>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964595	0.53507	0.0	1.16E-4	ENSG00000196944	ENST00000366475	T	0.77489	-1.1	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000717	T	0.77896	0.4199	M	0.83483	2.645	0.39073	D	0.960766	B	0.32188	0.359	B	0.27715	0.082	T	0.82208	-0.0571	10	0.62326	D	0.03	.	14.6139	0.68534	0.0:0.0:1.0:0.0	.	154	Q8NH00	OR2T4_HUMAN	H	154	ENSP00000355431:R154H	ENSP00000355431:R154H	R	+	2	0	OR2T4	246591966	1.000000	0.71417	0.175000	0.22980	0.827000	0.46813	7.985000	0.88162	1.469000	0.48083	0.485000	0.47835	CGC		0.522	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696	
CRTAC1	55118	broad.mit.edu	37	10	99683092	99683092	+	Missense_Mutation	SNP	C	C	T	rs374900860		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr10:99683092C>T	ENST00000370597.3	-	4	842	c.487G>A	c.(487-489)Gat>Aat	p.D163N	CRTAC1_ENST00000298819.4_Missense_Mutation_p.D163N|CRTAC1_ENST00000370591.2_Missense_Mutation_p.D163N	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	163						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TTGACCTCATCGCTCAGGATG	0.612																																						uc001kou.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(487-489)Gat>Aat		Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.		C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	106.0	79.0	88.0		487,487	5.2	0.6	10		88	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CRTAC1	NM_001206528.2,NM_018058.6	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	163/646,163/662	99683092	1,13005	2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99683092C>T	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.487G>A	10.37:g.99683092C>T	ENSP00000359629:p.Asp163Asn					CRTAC1_uc001kov.3_Missense_Mutation_p.D163N|CRTAC1_uc001kot.2_5'UTR	p.D163N	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	3	843	-		Colorectal(252;0.24)	163					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.487G>A	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167761	0.78339	0.0	1.16E-4	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	M	0.78223	2.4	0.80722	D	1	P;D	0.89917	0.868;1.0	B;D	0.63488	0.294;0.915	T	0.43861	-0.9365	10	0.20519	T	0.43	-21.7945	18.66	0.91469	0.0:1.0:0.0:0.0	.	163;163	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	N	59;163;163;155;163	ENSP00000408445:D59N;ENSP00000359629:D163N;ENSP00000298819:D163N;ENSP00000310810:D155N;ENSP00000359623:D163N	ENSP00000298819:D163N	D	-	1	0	CRTAC1	99673082	1.000000	0.71417	0.570000	0.28473	0.326000	0.28443	7.552000	0.82192	2.419000	0.82065	0.563000	0.77884	GAT		0.612	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058	
DEAF1	10522	broad.mit.edu	37	11	688025	688025	+	Missense_Mutation	SNP	C	C	T	rs371722695		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:688025C>T	ENST00000382409.3	-	4	1034	c.550G>A	c.(550-552)Ggc>Agc	p.G184S	DEAF1_ENST00000338675.6_Missense_Mutation_p.G184S	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	184					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TTTTCTTGGCCGGGAGCCAGA	0.547																																						uc001lqq.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(550-552)Ggc>Agc		Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.		C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	54.0	62.0	60.0		550	4.8	1.0	11		60	0,8600		0,0,4300	no	missense	DEAF1	NM_021008.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	184/566	688025	1,13005	2203	4300	6503	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:688025C>T	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.550G>A	11.37:g.688025C>T	ENSP00000371846:p.Gly184Ser					DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Missense_Mutation_p.G184S	p.G184S	NM_021008	NP_066288	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	3	1243	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	184					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.550G>A	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531880	0.64972	2.27E-4	0.0	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.63417	-0.04	4.77	4.77	0.60923	.	0.266086	0.31071	N	0.008302	T	0.49287	0.1548	N	0.19112	0.55	0.45995	D	0.998808	D	0.60575	0.988	P	0.46275	0.51	T	0.46076	-0.9217	10	0.07813	T	0.8	-38.5118	16.9509	0.86245	0.0:1.0:0.0:0.0	.	184	O75398	DEAF1_HUMAN	S	184;184;170;107	ENSP00000371846:G184S	ENSP00000341902:G184S	G	-	1	0	DEAF1	678025	0.998000	0.40836	0.971000	0.41717	0.944000	0.59088	4.618000	0.61211	2.349000	0.79799	0.655000	0.94253	GGC		0.547	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008	
OR51E1	143503	broad.mit.edu	37	11	4674216	4674216	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:4674216C>T	ENST00000396952.5	+	2	1110	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTGGTGCGGGGGGCTGC	0.557																																						uc021qcq.1																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30						c.(460-462)Cgg>Tgg		Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.							112.0	95.0	101.0					11																	4674216		2201	4298	6499	SO:0001583	missense	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4674216C>T	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.460C>T	11.37:g.4674216C>T	ENSP00000380155:p.Arg154Trp					OR51E1_uc001lzi.4_Missense_Mutation_p.R154W	p.R154W	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	460	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	153					A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	c.460C>T	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780979	0.49891	.	.	ENSG00000180785	ENST00000396952	T	0.71817	-0.6	4.98	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000189	D	0.85062	0.5611	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87261	0.2279	10	0.87932	D	0	.	11.7308	0.51735	0.3182:0.6818:0.0:0.0	.	153	Q8TCB6	O51E1_HUMAN	W	154	ENSP00000380155:R154W	ENSP00000380155:R154W	R	+	1	2	OR51E1	4630792	0.000000	0.05858	0.602000	0.28890	0.534000	0.34807	-0.421000	0.07053	1.313000	0.45069	0.655000	0.94253	CGG		0.557	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430	
OR2AG1	144125	broad.mit.edu	37	11	6807033	6807033	+	Silent	SNP	C	C	G			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:6807033C>G	ENST00000307401.4	+	1	786	c.765C>G	c.(763-765)gcC>gcG	p.A255A		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGGAGCTGCCACATTCATGT	0.488																																						uc001mer.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(763-765)gcC>gcG		Homo sapiens olfactory receptor, family 2, subfamily AG, member 1 (OR2AG1), mRNA.							149.0	132.0	138.0					11																	6807033		2201	4296	6497	SO:0001819	synonymous_variant	144125				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6807033C>G	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.765C>G	11.37:g.6807033C>G							p.A255A	NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	0	786	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	255					B9EKV7|Q6IFG7|Q96R26	Silent	SNP	ENST00000307401.4	37	c.765C>G	CCDS31414.1																																																																																				0.488	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489	
OR4C12	283093	broad.mit.edu	37	11	50004010	50004010	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:50004010A>G	ENST00000335238.4	-	1	61	c.28T>C	c.(28-30)Ttc>Ctc	p.F10L		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ATTAAAATGAATTCAGTCACA	0.338																																						uc010ria.2																			0		p.E9K(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(28-30)Ttc>Ctc		Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.							49.0	46.0	47.0					11																	50004010		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50004010A>G	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.28T>C	11.37:g.50004010A>G	ENSP00000334418:p.Phe10Leu						p.F10L	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			0	62	-			10					B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.28T>C	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	18.89	3.718802	0.68844	.	.	ENSG00000221954	ENST00000335238	T	0.04454	3.62	3.31	3.31	0.37934	.	0.000000	0.44097	U	0.000483	T	0.13586	0.0329	M	0.92169	3.28	0.31534	N	0.660825	P	0.37731	0.607	B	0.40636	0.335	T	0.05733	-1.0867	10	0.56958	D	0.05	.	10.0552	0.42241	1.0:0.0:0.0:0.0	.	10	Q96R67	OR4CC_HUMAN	L	10	ENSP00000334418:F10L	ENSP00000334418:F10L	F	-	1	0	OR4C12	49960586	0.993000	0.37304	0.882000	0.34594	0.785000	0.44390	3.051000	0.49885	1.528000	0.49103	0.325000	0.21440	TTC		0.338	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270	
FIBP	9158	broad.mit.edu	37	11	65655866	65655866	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:65655866G>A	ENST00000338369.2	-	1	136	c.24C>T	c.(22-24)ttC>ttT	p.F8F	FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000357519.4_Silent_p.F8F|FIBP_ENST00000533045.1_Silent_p.F8F|CCDC85B_ENST00000312579.2_5'Flank	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	8					fibroblast growth factor receptor signaling pathway (GO:0008543)|platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		TGTTCCCCACGAAGATGTCCA	0.682											OREG0021090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ogd.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(22-24)ttC>ttT		Homo sapiens fibroblast growth factor (acidic) intracellular binding protein (FIBP), transcript variant 1, mRNA.							43.0	31.0	35.0					11																	65655866		2193	4266	6459	SO:0001819	synonymous_variant	9158				fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding	g.chr11:65655866G>A	AF010187	CCDS8118.1, CCDS8119.1	11q13.1	2006-06-15			ENSG00000172500	ENSG00000172500			3705	protein-coding gene	gene with protein product		608296				9806903	Standard	NM_004214		Approved	FGFIBP	uc001ogd.3	O43427	OTTHUMG00000166846	ENST00000338369.2:c.24C>T	11.37:g.65655866G>A			OREG0021090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085	FIBP_uc001oge.3_Silent_p.F8F|FIBP_uc010roq.1_Silent_p.F8F|FIBP_uc010ror.1_Silent_p.F8F|CCDC85B_uc001ogf.3_5'Flank	p.F8F	NM_198897	NP_942600	O43427	FIBP_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	0	145	-			8					A8K0J7|Q27Q85|Q6IBQ3|Q9HD65	Silent	SNP	ENST00000338369.2	37	c.24C>T	CCDS8119.1																																																																																				0.682	FIBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000391575.2	NM_198897	
MMP1	4312	broad.mit.edu	37	11	102663439	102663439	+	Silent	SNP	C	C	T	rs571363149	byFrequency	TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:102663439C>T	ENST00000315274.6	-	7	997	c.930G>A	c.(928-930)ccG>ccA	p.P310P	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	310					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	GCTCAACTTCCGGGTAGAAGG	0.423													C|||	4	0.000798722	0.0	0.0	5008	,	,		18035	0.0		0.0	False		,,,				2504	0.0041					uc001phi.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(928-930)ccG>ccA		Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.							114.0	114.0	114.0					11																	102663439		2203	4299	6502	SO:0001819	synonymous_variant	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102663439C>T	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.930G>A	11.37:g.102663439C>T						LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Silent_p.P244P	p.P310P	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	6	1073	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	310			Hemopexin-like 1.		P08156	Silent	SNP	ENST00000315274.6	37	c.930G>A	CCDS8322.1																																																																																				0.423	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421	
OR8D4	338662	broad.mit.edu	37	11	123777647	123777647	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:123777647G>A	ENST00000321355.2	+	1	539	c.509G>A	c.(508-510)gGa>gAa	p.G170E		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TCTTTCTGTGGATCAAACATC	0.418																																						uc010saa.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(508-510)gGa>gAa		Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.							218.0	214.0	216.0					11																	123777647		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777647G>A	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.509G>A	11.37:g.123777647G>A	ENSP00000325381:p.Gly170Glu						p.G170E	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	0	509	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	170					Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.509G>A	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	G	2.507	-0.313868	0.05422	.	.	ENSG00000181518	ENST00000321355	T	0.38887	1.11	5.81	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.498728	0.16960	N	0.192540	T	0.39226	0.1070	M	0.69463	2.115	0.09310	N	1	B	0.21225	0.053	B	0.30251	0.113	T	0.36212	-0.9757	10	0.20046	T	0.44	.	8.8791	0.35363	0.4661:0.0:0.5339:0.0	.	170	Q8NGM9	OR8D4_HUMAN	E	170	ENSP00000325381:G170E	ENSP00000325381:G170E	G	+	2	0	OR8D4	123282857	0.066000	0.20996	0.000000	0.03702	0.674000	0.39518	0.909000	0.28558	-0.023000	0.13963	0.655000	0.94253	GGA		0.418	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197	
KCNMB4	27345	broad.mit.edu	37	12	70793987	70793987	+	Splice_Site	DEL	A	A	-			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr12:70793987delA	ENST00000258111.4	+	2	795		c.e2-1			NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4						action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	CTATTTTGTTAGTGCTCCTAT	0.333																																						uc001svx.3																			0				kidney(1)|large_intestine(4)|lung(5)	10						c.e2-2		Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 4 (KCNMB4), mRNA.							103.0	104.0	104.0					12																	70793987		2203	4300	6503	SO:0001630	splice_region_variant	27345				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding	g.chr12:70793987delA	AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"""Potassium channels"""	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.337-1A>-	12.37:g.70793987delA							p.C113_splice	NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		2	790	+	Renal(347;0.236)		113					Q8IVR3|Q9NPA4|Q9P0G5	Splice_Site	DEL	ENST00000258111.4	37	c.337_splice	CCDS8997.1																																																																																				0.333	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	NM_014505	Intron
ANKS1B	56899	broad.mit.edu	37	12	100166859	100166859	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr12:100166859G>A	ENST00000547776.2	-	8	968	c.969C>T	c.(967-969)acC>acT	p.T323T	ANKS1B_ENST00000329257.7_Silent_p.T323T|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	323						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTCCAGTGACGGTTTCACCTA	0.323																																						uc001tge.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(967-969)acC>acT		Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.							86.0	81.0	82.0					12																	100166859		1793	4065	5858	SO:0001819	synonymous_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100166859G>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.969C>T	12.37:g.100166859G>A						ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Silent_p.T289T	p.T323T	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	7	1386	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	323					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	c.969C>T	CCDS55872.1																																																																																				0.323	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140	
KDM2B	84678	broad.mit.edu	37	12	121880300	121880300	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr12:121880300C>T	ENST00000377071.4	-	19	3016	c.2944G>A	c.(2944-2946)Gag>Aag	p.E982K	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.E350K|KDM2B_ENST00000377069.4_Missense_Mutation_p.E913K	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	982					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTGGGCTCCTCGCCCTCGCTC	0.687																																						uc001uat.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2944-2946)Gag>Aag		Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.							25.0	29.0	28.0					12																	121880300		2119	4221	6340	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880300C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2944G>A	12.37:g.121880300C>T	ENSP00000366271:p.Glu982Lys					KDM2B_uc010szy.2_Missense_Mutation_p.E422K|KDM2B_uc001uaq.3_Missense_Mutation_p.E422K|KDM2B_uc001uar.3_Missense_Mutation_p.E573K|KDM2B_uc001uas.3_Missense_Mutation_p.E913K|KDM2B_uc021rfd.1_Missense_Mutation_p.E913K|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.E982K|KDM2B_uc001uao.3_Missense_Mutation_p.E230K|KDM2B_uc010szx.2_Missense_Mutation_p.E230K|KDM2B_uc001uap.3_Non-coding_Transcript	p.E982K	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			18	3048	-			982					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.2944G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709271	0.68615	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.23950	2.17;2.46;1.88	5.35	5.35	0.76521	.	1.245110	0.05453	N	0.549762	T	0.34542	0.0901	L	0.55481	1.735	0.80722	D	1	D;B;D;P	0.56035	0.974;0.147;0.97;0.926	B;B;B;B	0.41466	0.358;0.023;0.191;0.138	T	0.46569	-0.9182	10	0.36615	T	0.2	-22.2692	19.0704	0.93134	0.0:1.0:0.0:0.0	.	422;982;913;425	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	K	970;350;913;982;425;985	ENSP00000437821:E350K;ENSP00000366269:E913K;ENSP00000366271:E982K	ENSP00000261824:E985K	E	-	1	0	KDM2B	120364683	0.999000	0.42202	0.976000	0.42696	0.010000	0.07245	3.990000	0.56965	2.501000	0.84356	0.655000	0.94253	GAG		0.687	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590	
PAN3	255967	broad.mit.edu	37	13	28841518	28841518	+	Missense_Mutation	SNP	A	A	C			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr13:28841518A>C	ENST00000380958.3	+	12	1924	c.1772A>C	c.(1771-1773)tAc>tCc	p.Y591S	PAN3_ENST00000282391.5_Missense_Mutation_p.Y279S|PAN3_ENST00000399613.1_Missense_Mutation_p.Y391S	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GCTGATGCCTACTTCACCAAG	0.363																																						uc001urz.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1771-1773)tAc>tCc		Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.							101.0	94.0	96.0					13																	28841518		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28841518A>C	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1772A>C	13.37:g.28841518A>C	ENSP00000370345:p.Tyr591Ser					PAN3_uc010tdo.1_Missense_Mutation_p.Y591S|PAN3_uc001ury.3_Missense_Mutation_p.Y279S|PAN3_uc001urx.3_Missense_Mutation_p.Y391S	p.Y591S	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	11	1924	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	591			Interaction with PAN2.|Protein kinase.			Missense_Mutation	SNP	ENST00000380958.3	37	c.1772A>C	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	A	9.846	1.192264	0.21954	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.39592	1.07;1.07;1.07	5.56	5.56	0.83823	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055702	0.64402	D	0.000001	T	0.21227	0.0511	N	0.03177	-0.4	0.80722	D	1	B;B;B;B	0.20261	0.019;0.043;0.005;0.017	B;B;B;B	0.22753	0.041;0.02;0.004;0.008	T	0.12837	-1.0532	10	0.08381	T	0.77	-11.5191	15.7196	0.77697	1.0:0.0:0.0:0.0	.	591;591;279;537	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	S	591;391;279	ENSP00000370345:Y591S;ENSP00000382522:Y391S;ENSP00000282391:Y279S	ENSP00000282391:Y279S	Y	+	2	0	PAN3	27739518	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.327000	0.79147	2.122000	0.65172	0.528000	0.53228	TAC		0.363	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854	
RXFP2	122042	broad.mit.edu	37	13	32360537	32360537	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr13:32360537C>T	ENST00000298386.2	+	12	1018	c.947C>T	c.(946-948)aCg>aTg	p.T316M	RXFP2_ENST00000380314.1_Missense_Mutation_p.T292M	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	316					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TCTAGCAATACGATAACGGAA	0.358																																						uc001utt.3																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(946-948)aCg>aTg		Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.							122.0	111.0	115.0					13																	32360537		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32360537C>T	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.947C>T	13.37:g.32360537C>T	ENSP00000298386:p.Thr316Met					RXFP2_uc010aba.3_Missense_Mutation_p.T292M	p.T316M	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	11	1018	+		Lung SC(185;0.0262)	316					B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.947C>T	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.527268	0.27299	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.57752	0.38;0.38	5.72	1.32	0.21799	.	0.418879	0.29466	N	0.012063	T	0.24122	0.0584	N	0.05383	-0.06	0.18873	N	0.999987	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.06881	-1.0802	10	0.35671	T	0.21	.	1.9951	0.03455	0.2094:0.0775:0.252:0.4611	.	292;316	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	M	292;316	ENSP00000369670:T292M;ENSP00000298386:T316M	ENSP00000298386:T316M	T	+	2	0	RXFP2	31258537	0.000000	0.05858	0.872000	0.34217	0.879000	0.50718	-0.403000	0.07214	0.419000	0.25927	-0.254000	0.11334	ACG		0.358	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806	
SLCO3A1	28232	broad.mit.edu	37	15	92663774	92663774	+	Silent	SNP	A	A	C			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr15:92663774A>C	ENST00000318445.6	+	5	1303	c.1089A>C	c.(1087-1089)gcA>gcC	p.A363A	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Silent_p.A363A	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	363					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	TGGAGATTGCAGTGGTGGCTG	0.567																																						uc002bqx.2																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1087-1089)gcA>gcC		Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.							213.0	189.0	197.0					15																	92663774		2198	4298	6496	SO:0001819	synonymous_variant	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92663774A>C	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1089A>C	15.37:g.92663774A>C						SLCO3A1_uc002bqy.2_Silent_p.A363A|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.A305A	p.A363A	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		4	1290	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		363					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	37	c.1089A>C	CCDS10371.1																																																																																				0.567	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272	
CERS3	204219	broad.mit.edu	37	15	101013181	101013181	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr15:101013181C>T	ENST00000394113.1	-	11	1376	c.686G>A	c.(685-687)cGc>cAc	p.R229H	CERS3_ENST00000538112.2_Missense_Mutation_p.R229H|CERS3_ENST00000284382.4_Missense_Mutation_p.R229H|CERS3_ENST00000560944.1_Intron			Q8IU89	CERS3_HUMAN	ceramide synthase 3	229	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.R229H(1)									GGTCCCACTGCGAATATAATT	0.433																																						uc002bwa.3																			1	Substitution - Missense(1)	p.R229H(1)	large_intestine(1)								c.(718-720)cGc>cAc		Homo sapiens ceramide synthase 3 (CERS3), mRNA.							116.0	100.0	105.0					15																	101013181		2203	4300	6503	SO:0001583	missense	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:101013181C>T		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.686G>A	15.37:g.101013181C>T	ENSP00000377672:p.Arg229His					CERS3_uc002bvz.3_Missense_Mutation_p.R229H|CERS3_uc002bwb.3_Missense_Mutation_p.R229H	p.R240H	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN			10	1290	-			229			TLC.		Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	c.719G>A	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215021	0.95104	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.86097	-2.07;-2.07	5.92	5.92	0.95590	TRAM/LAG1/CLN8 homology domain (3);	0.097175	0.64402	D	0.000001	D	0.93598	0.7956	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93419	0.6775	10	0.54805	T	0.06	-7.9321	19.0795	0.93177	0.0:1.0:0.0:0.0	.	229	Q8IU89	CERS3_HUMAN	H	229;240;229	ENSP00000284382:R229H;ENSP00000437640:R229H	ENSP00000284382:R229H	R	-	2	0	CERS3	98830704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.620000	0.74224	2.795000	0.96236	0.655000	0.94253	CGC		0.433	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842	
PDIA2	64714	broad.mit.edu	37	16	334899	334899	+	Missense_Mutation	SNP	G	G	A	rs141542731	byFrequency	TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr16:334899G>A	ENST00000219406.6	+	4	580	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	PDIA2_ENST00000404312.1_Missense_Mutation_p.A185T|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	188					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CGAGGACGTGGCCACCTTCTT	0.672													g|||	8	0.00159744	0.0	0.0014	5008	,	,		16585	0.0		0.006	False		,,,				2504	0.001					uc002cgn.1																			0				breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17						c.(562-564)Gcc>Acc		Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA.		G	THR/ALA	7,4111		0,7,2052	43.0	50.0	48.0		562	3.8	0.8	16	dbSNP_134	48	98,8272		0,98,4087	yes	missense	PDIA2	NM_006849.2	58	0,105,6139	AA,AG,GG		1.1708,0.17,0.8408	possibly-damaging	188/526	334899	105,12383	2059	4185	6244	SO:0001583	missense	64714				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	g.chr16:334899G>A	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.562G>A	16.37:g.334899G>A	ENSP00000219406:p.Ala188Thr					LUC7L_uc021szo.1_Intron|PDIA2_uc002cgo.1_Missense_Mutation_p.A188T|PDIA2_uc010bqt.1_Missense_Mutation_p.A33T	p.A188T	NM_006849	NP_006840	Q13087	PDIA2_HUMAN			8	1670	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	188					A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	c.562G>A	CCDS42089.1	9	0.004120879120879121	0	0.0	4	0.011049723756906077	0	0.0	5	0.006596306068601583	g	9.501	1.103229	0.20632	0.0017	0.011708	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.28895	1.59;1.59	3.75	3.75	0.43078	Thioredoxin-like fold (2);	0.322570	0.28736	N	0.014301	T	0.22126	0.0533	L	0.55481	1.735	0.09310	N	1	B	0.23249	0.082	B	0.33568	0.166	T	0.23226	-1.0194	10	0.66056	D	0.02	.	5.2577	0.15555	0.1147:0.2124:0.6729:0.0	.	188	Q13087	PDIA2_HUMAN	T	188;157;185	ENSP00000219406:A188T;ENSP00000384410:A185T	ENSP00000219406:A188T	A	+	1	0	PDIA2	274900	0.384000	0.25164	0.792000	0.32020	0.564000	0.35744	2.460000	0.45031	1.925000	0.55765	0.457000	0.33378	GCC		0.672	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849	
MYH13	8735	broad.mit.edu	37	17	10212612	10212612	+	Missense_Mutation	SNP	C	C	T	rs142532419	byFrequency	TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr17:10212612C>T	ENST00000418404.3	-	34	5271	c.5108G>A	c.(5107-5109)cGc>cAc	p.R1703H	MYH13_ENST00000252172.4_Missense_Mutation_p.R1703H|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1703					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGACAGCCTGCGGGTCCGCTC	0.667													C|||	5	0.000998403	0.003	0.0	5008	,	,		17664	0.0		0.001	False		,,,				2504	0.0					uc002gmk.1																			0		p.R1703S(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(5107-5109)cGc>cAc		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.		C	HIS/ARG	0,4232		0,0,2116	26.0	28.0	27.0		5108	3.5	1.0	17	dbSNP_134	27	2,8470		0,2,4234	yes	missense	MYH13	NM_003802.2	29	0,2,6350	TT,TC,CC		0.0236,0.0,0.0157	probably-damaging	1703/1939	10212612	2,12702	2116	4236	6352	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10212612C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5108G>A	17.37:g.10212612C>T	ENSP00000404570:p.Arg1703His						p.R1703H	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			34	5198	-			1703					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5108G>A	CCDS45613.1	6	0.0027472527472527475	3	0.006097560975609756	0	0.0	0	0.0	3	0.00395778364116095	C	25.4	4.637184	0.87760	0.0	2.36E-4	ENSG00000006788	ENST00000252172	D	0.84873	-1.91	4.45	3.46	0.39613	Myosin tail (1);	.	.	.	.	D	0.93337	0.7876	H	0.98218	4.175	0.40050	D	0.975768	D	0.89917	1.0	D	0.91635	0.999	D	0.95052	0.8188	9	0.87932	D	0	.	14.1534	0.65401	0.1509:0.8491:0.0:0.0	.	1703	Q9UKX3	MYH13_HUMAN	H	1703	ENSP00000252172:R1703H	ENSP00000252172:R1703H	R	-	2	0	MYH13	10153337	0.984000	0.35163	0.999000	0.59377	0.960000	0.62799	4.708000	0.61859	1.207000	0.43291	0.655000	0.94253	CGC		0.667	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
STAT5A	6776	broad.mit.edu	37	17	40458321	40458321	+	Silent	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr17:40458321C>T	ENST00000345506.4	+	14	2178	c.1536C>T	c.(1534-1536)aaC>aaT	p.N512N	STAT5A_ENST00000588868.1_Silent_p.N481N|STAT5A_ENST00000590949.1_Silent_p.N512N|STAT5A_ENST00000452307.2_Silent_p.N512N|STAT5A_ENST00000546010.2_Silent_p.N482N|STAT5A_ENST00000587646.1_5'UTR	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	512					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AGGCGCTCAACATGAAATTCA	0.572																																						uc002hzj.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1534-1536)aaC>aaT		Homo sapiens signal transducer and activator of transcription 5A (STAT5A), mRNA.							92.0	81.0	85.0					17																	40458321		2203	4300	6503	SO:0001819	synonymous_variant	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40458321C>T	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1536C>T	17.37:g.40458321C>T						STAT5A_uc010cya.2_Silent_p.N512N|STAT5A_uc010cyb.2_Silent_p.N481N|STAT5A_uc010cyc.2_Silent_p.N482N|STAT5A_uc010cyd.1_5'UTR|STAT5A_uc010cye.1_5'UTR	p.N512N	NM_003152	NP_003143	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	13	2178	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	512					Q1KLZ6	Silent	SNP	ENST00000345506.4	37	c.1536C>T	CCDS11424.1																																																																																				0.572	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152	
MPP3	4356	broad.mit.edu	37	17	41888484	41888484	+	Missense_Mutation	SNP	T	T	G			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr17:41888484T>G	ENST00000398389.4	-	17	1510	c.1345A>C	c.(1345-1347)Aac>Cac	p.N449H	MPP3_ENST00000475450.1_5'Flank|MPP3_ENST00000398393.1_Missense_Mutation_p.N474H	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	449	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		ACGTACTTGTTGTGATGTAAG	0.483																																						uc002ieh.3																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1420-1422)Aac>Cac		Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.							106.0	103.0	104.0					17																	41888484		1913	4131	6044	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41888484T>G		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1345A>C	17.37:g.41888484T>G	ENSP00000381425:p.Asn449His					MPP3_uc002iei.4_Missense_Mutation_p.N449H|MPP3_uc002iej.3_Non-coding_Transcript	p.N474H	NM_001932	NP_001923	Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	14	1681	-		Breast(137;0.00394)	449			Guanylate kinase-like.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.1420A>C	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.045165	0.36085	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.19394	2.15;2.15	5.38	4.28	0.50868	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.145203	0.64402	N	0.000009	T	0.26919	0.0659	L	0.42744	1.35	0.47584	D	0.999462	P;P	0.44344	0.635;0.833	P;P	0.53760	0.461;0.734	T	0.03008	-1.1083	10	0.12103	T	0.63	.	11.1754	0.48596	0.0:0.0:0.1539:0.8461	.	449;474	Q13368;D3DX46	MPP3_HUMAN;.	H	474;449	ENSP00000381430:N474H;ENSP00000381425:N449H	ENSP00000381425:N449H	N	-	1	0	MPP3	39244010	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.685000	0.46959	1.023000	0.39654	0.533000	0.62120	AAC		0.483	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932	
ASXL3	80816	broad.mit.edu	37	18	31320334	31320334	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr18:31320334G>A	ENST00000269197.5	+	11	2966	c.2966G>A	c.(2965-2967)cGg>cAg	p.R989Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	989					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAGTCAACCCGGAACATATCA	0.433																																						uc010dmg.1																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(2965-2967)cGg>cAg		Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.							37.0	37.0	37.0					18																	31320334		1859	4101	5960	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31320334G>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2966G>A	18.37:g.31320334G>A	ENSP00000269197:p.Arg989Gln					ASXL3_uc002kxq.2_Missense_Mutation_p.R696Q	p.R989Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			10	3021	+			989					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.2966G>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647670	0.47258	.	.	ENSG00000141431	ENST00000269197	T	0.56275	0.47	5.93	5.06	0.68205	.	1.008390	0.07969	N	0.983687	T	0.33381	0.0861	N	0.20807	0.61	0.40487	D	0.980509	P	0.39352	0.669	B	0.20955	0.032	T	0.05550	-1.0878	10	0.30078	T	0.28	.	11.1621	0.48522	0.14:0.0:0.86:0.0	.	989	Q9C0F0	ASXL3_HUMAN	Q	989	ENSP00000269197:R989Q	ENSP00000269197:R989Q	R	+	2	0	ASXL3	29574332	1.000000	0.71417	0.046000	0.18839	0.389000	0.30415	6.597000	0.74118	1.515000	0.48885	0.655000	0.94253	CGG		0.433	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		
ZNF516	9658	broad.mit.edu	37	18	74154420	74154420	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr18:74154420G>T	ENST00000443185.2	-	3	908	c.591C>A	c.(589-591)caC>caA	p.H197Q	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TGAACGGCTTGTGCGCCTGGT	0.667																																						uc021ulp.1																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(589-591)caC>caA		Homo sapiens zinc finger protein 516 (ZNF516), mRNA.							25.0	27.0	26.0					18																	74154420		2151	4249	6400	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154420G>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.591C>A	18.37:g.74154420G>T	ENSP00000394757:p.His197Gln						p.H197Q	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	909	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	197						Missense_Mutation	SNP	ENST00000443185.2	37	c.591C>A		.	.	.	.	.	.	.	.	.	.	G	17.28	3.350709	0.61183	.	.	ENSG00000101493	ENST00000443185	T	0.01527	4.8	4.53	3.65	0.41850	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.214248	0.40908	D	0.000982	T	0.09247	0.0228	.	.	.	0.48632	D	0.999682	D	0.89917	1.0	D	0.91635	0.999	T	0.01524	-1.1333	9	0.66056	D	0.02	-2.0813	12.9392	0.58333	0.0791:0.0:0.9209:0.0	.	197	Q92618	ZN516_HUMAN	Q	197	ENSP00000394757:H197Q	ENSP00000394757:H197Q	H	-	3	2	ZNF516	72283408	0.991000	0.36638	0.998000	0.56505	0.880000	0.50808	0.095000	0.15127	1.267000	0.44247	-0.140000	0.14226	CAC		0.667	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643	
CCDC105	126402	broad.mit.edu	37	19	15132195	15132195	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr19:15132195G>A	ENST00000292574.3	+	4	987	c.905G>A	c.(904-906)cGg>cAg	p.R302Q		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	302						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GAAGCCAAGCGGTTGTTGGTC	0.597																																						uc002nae.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(904-906)cGg>cAg		Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.							74.0	54.0	61.0					19																	15132195		2203	4300	6503	SO:0001583	missense	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15132195G>A	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.905G>A	19.37:g.15132195G>A	ENSP00000292574:p.Arg302Gln						p.R302Q	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN			3	1004	+			302					Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	c.905G>A	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	g	7.118	0.577339	0.13686	.	.	ENSG00000160994	ENST00000292574	T	0.02579	4.24	3.71	0.296	0.15757	.	0.602105	0.14650	N	0.306680	T	0.01730	0.0055	L	0.38838	1.175	0.18873	N	0.999986	P	0.37781	0.608	B	0.28305	0.088	T	0.46707	-0.9172	10	0.16420	T	0.52	-7.0287	3.1262	0.06408	0.2332:0.0:0.5562:0.2106	.	302	Q8IYK2	CC105_HUMAN	Q	302	ENSP00000292574:R302Q	ENSP00000292574:R302Q	R	+	2	0	CCDC105	14993195	0.107000	0.21998	0.247000	0.24249	0.031000	0.12232	0.043000	0.13971	0.055000	0.16094	-0.187000	0.12897	CGG		0.597	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482	
TMEM161A	54929	broad.mit.edu	37	19	19232455	19232455	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr19:19232455T>C	ENST00000162044.9	-	8	743	c.679A>G	c.(679-681)Atc>Gtc	p.I227V	TMEM161A_ENST00000587583.2_Missense_Mutation_p.I202V|TMEM161A_ENST00000450333.2_Missense_Mutation_p.I124V	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	227					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CCCACGCGGATAGCCAGCTTG	0.677																																						uc002nlg.3																			0		p.I227I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(679-681)Atc>Gtc		Homo sapiens transmembrane protein 161A (TMEM161A), mRNA.							45.0	48.0	47.0					19																	19232455		2203	4300	6503	SO:0001583	missense	54929				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		g.chr19:19232455T>C	BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.679A>G	19.37:g.19232455T>C	ENSP00000162044:p.Ile227Val					TMEM161A_uc002nli.3_Missense_Mutation_p.I124V	p.I227V	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		7	709	-			227					B3KUE0|G5E9M6|Q7L2Y1	Missense_Mutation	SNP	ENST00000162044.9	37	c.679A>G	CCDS12393.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.552688	0.00918	.	.	ENSG00000064545	ENST00000450333;ENST00000162044	.	.	.	4.84	1.33	0.21861	.	0.185852	0.46145	N	0.000310	T	0.06325	0.0163	N	0.01109	-1.01	0.29757	N	0.835889	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.31916	-0.9926	9	0.02654	T	1	-5.8674	2.5618	0.04773	0.2666:0.2595:0.0:0.4738	.	124;124;227	G5E9M6;B3KUE0;Q9NX61	.;.;T161A_HUMAN	V	124;227	.	ENSP00000162044:I227V	I	-	1	0	TMEM161A	19093455	0.012000	0.17670	0.493000	0.27502	0.336000	0.28762	0.129000	0.15830	0.237000	0.21200	0.482000	0.46254	ATC		0.677	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814	
NUP62	23636	broad.mit.edu	37	19	50411934	50411934	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr19:50411934G>A	ENST00000596217.1	-	2	3018	c.1131C>T	c.(1129-1131)cgC>cgT	p.R377R	IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000597723.1_Silent_p.R301R|NUP62_ENST00000597029.1_Silent_p.R377R|NUP62_ENST00000413454.1_Silent_p.R377R|NUP62_ENST00000352066.3_Silent_p.R377R|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Silent_p.R377R			P37198	NUP62_HUMAN	nucleoporin 62kDa	377					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCTCCACCTCGCGGTGCAGGC	0.612																																						uc002prb.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19						c.(1129-1131)cgC>cgT		Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.							109.0	103.0	105.0					19																	50411934		2203	4300	6503	SO:0001819	synonymous_variant	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50411934G>A	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.1131C>T	19.37:g.50411934G>A						IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Silent_p.R377R|NUP62_uc002pqy.3_Silent_p.R377R|NUP62_uc002pra.3_Silent_p.R377R|NUP62_uc002pqz.3_Silent_p.R377R|NUP62_uc002prc.3_Silent_p.R301R|NUP62_uc021uya.1_Silent_p.R377R	p.R377R	NM_012346	NP_714941	P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	1	1375	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	377					B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	ENST00000596217.1	37	c.1131C>T	CCDS12788.1																																																																																				0.612	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719	
CAD	790	broad.mit.edu	37	2	27446562	27446562	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr2:27446562A>G	ENST00000403525.1	+	7	1085	c.941A>G	c.(940-942)aAc>aGc	p.N314S	CAD_ENST00000264705.4_Missense_Mutation_p.N314S			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTTCACCAACGCCAATGAT	0.537																																						uc002rji.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(940-942)aAc>aGc		Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						272.0	258.0	263.0					2																	27446562		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27446562A>G	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.941A>G	2.37:g.27446562A>G	ENSP00000384510:p.Asn314Ser					CAD_uc010eyw.3_Missense_Mutation_p.N314S	p.N314S	NM_004341	NP_004332	P27708	PYR1_HUMAN			6	1103	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		314			GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.941A>G		.	.	.	.	.	.	.	.	.	.	A	24.2	4.499626	0.85176	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.89123	-2.47;-2.47	5.45	5.45	0.79879	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.94188	0.8135	M	0.81179	2.53	0.58432	D	0.999998	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.994	D	0.94810	0.7978	10	0.87932	D	0	-4.6325	13.4523	0.61178	1.0:0.0:0.0:0.0	.	314;314	F8VPD4;P27708	.;PYR1_HUMAN	S	314	ENSP00000264705:N314S;ENSP00000384510:N314S	ENSP00000264705:N314S	N	+	2	0	CAD	27300066	1.000000	0.71417	0.972000	0.41901	0.978000	0.69477	6.929000	0.75852	2.069000	0.61940	0.402000	0.26972	AAC		0.537	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1		
RHOQ	23433	broad.mit.edu	37	2	46803312	46803312	+	Missense_Mutation	SNP	T	T	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr2:46803312T>A	ENST00000238738.4	+	3	607	c.288T>A	c.(286-288)ttT>ttA	p.F96L	RP11-417F21.1_ENST00000506009.2_RNA|RHOQ_ENST00000465198.1_3'UTR	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	96					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|GTP catabolic process (GO:0006184)|insulin receptor signaling pathway (GO:0008286)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GBD domain binding (GO:0032427)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|profilin binding (GO:0005522)			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CAGCCTCATTTCAAAATGTGA	0.418																																						uc002rva.3																			0				skin(2)	2						c.(286-288)ttT>ttA		Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.							88.0	81.0	83.0					2																	46803312		2203	4297	6500	SO:0001583	missense	23433				cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding	g.chr2:46803312T>A	M31470	CCDS33191.1	2p21	2012-02-27	2012-02-27	2004-03-24	ENSG00000119729	ENSG00000119729			17736	protein-coding gene	gene with protein product		605857	"""RAS-like, family 7, member A"", ""ras homolog gene family, member Q"""	RASL7A, ARHQ		2108320	Standard	NM_012249		Approved	TC10	uc002rva.3	P17081	OTTHUMG00000150653	ENST00000238738.4:c.288T>A	2.37:g.46803312T>A	ENSP00000238738:p.Phe96Leu					BC048424_uc002rvb.3_Intron	p.F96L	NM_012249	NP_036381	P17081	RHOQ_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	607	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	96					D6W5A6|Q0VGN1|Q52LS8|Q53SJ1|Q6NS39|Q6P146|Q7Z480	Missense_Mutation	SNP	ENST00000238738.4	37	c.288T>A	CCDS33191.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.958301	0.92726	.	.	ENSG00000119729	ENST00000238738;ENST00000482449	T;T	0.80304	-1.36;-1.36	5.43	4.28	0.50868	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.75177	0.3814	L	0.41124	1.26	0.80722	D	1	B	0.29835	0.258	B	0.35727	0.209	T	0.74103	-0.3773	10	0.66056	D	0.02	.	11.0807	0.48057	0.0:0.0718:0.0:0.9282	.	96	P17081	RHOQ_HUMAN	L	96;17	ENSP00000238738:F96L;ENSP00000428006:F17L	ENSP00000238738:F96L	F	+	3	2	RHOQ	46656816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.222000	0.51223	1.089000	0.41292	0.533000	0.62120	TTT		0.418	RHOQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319409.1	NM_012249	
LRP2	4036	broad.mit.edu	37	2	170060768	170060768	+	Missense_Mutation	SNP	G	G	A	rs367997832		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr2:170060768G>A	ENST00000263816.3	-	42	8014	c.7729C>T	c.(7729-7731)Cgc>Tgc	p.R2577C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2577					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGAGTGCTGCGTTCAATCCTC	0.433																																						uc002ues.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(7729-7731)Cgc>Tgc		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	G	CYS/ARG	0,4406		0,0,2203	123.0	132.0	129.0		7729	4.9	0.9	2		129	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP2	NM_004525.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2577/4656	170060768	1,13005	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170060768G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7729C>T	2.37:g.170060768G>A	ENSP00000263816:p.Arg2577Cys						p.R2577C	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	41	7942	-			2577					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.7729C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974532	0.74246	0.0	1.16E-4	ENSG00000081479	ENST00000263816	D	0.96200	-3.94	5.78	4.9	0.64082	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97885	1.0294	10	0.62326	D	0.03	.	10.9741	0.47456	0.068:0.0:0.8022:0.1298	.	2577	P98164	LRP2_HUMAN	C	2577	ENSP00000263816:R2577C	ENSP00000263816:R2577C	R	-	1	0	LRP2	169769014	1.000000	0.71417	0.922000	0.36590	0.869000	0.49853	4.021000	0.57196	1.430000	0.47334	0.655000	0.94253	CGC		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
ISM1	140862	broad.mit.edu	37	20	13279712	13279712	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr20:13279712C>T	ENST00000262487.4	+	6	1007	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	334	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GCCTACAGCACGGCCGACATC	0.582																																						uc010gce.1																			0		p.T334T(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(1000-1002)aCg>aTg		Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.							46.0	52.0	50.0					20																	13279712		2117	4230	6347	SO:0001583	missense	140862					extracellular region		g.chr20:13279712C>T	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1001C>T	20.37:g.13279712C>T	ENSP00000262487:p.Thr334Met					TASP1_uc010zri.1_Intron	p.T334M	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN			5	1007	+			334			AMOP.		Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	c.1001C>T	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.034933	0.54896	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.46063	0.88;0.88	5.88	4.93	0.64822	AMOP (3);	0.188477	0.56097	D	0.000029	T	0.39226	0.1070	N	0.14661	0.345	0.80722	D	1	P	0.51147	0.942	P	0.50270	0.636	T	0.45498	-0.9257	10	0.72032	D	0.01	-11.7118	17.0323	0.86464	0.0:0.8726:0.1274:0.0	.	334	B1AKI9	ISM1_HUMAN	M	334;288	ENSP00000262487:T334M;ENSP00000409938:T288M	ENSP00000262487:T334M	T	+	2	0	ISM1	13227712	1.000000	0.71417	0.755000	0.31263	0.373000	0.29922	6.044000	0.71012	1.463000	0.47967	0.655000	0.94253	ACG		0.582	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2		
SCN10A	6336	broad.mit.edu	37	3	38739171	38739171	+	Missense_Mutation	SNP	C	C	T	rs148537653		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:38739171C>T	ENST00000449082.2	-	27	5539	c.5540G>A	c.(5539-5541)cGa>cAa	p.R1847Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1847					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TTGCTTCCATCGGAGAGTGGT	0.473																																						uc003ciq.3																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(5539-5541)cGa>cAa		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						156.0	136.0	143.0					3																	38739171		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739171C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.5540G>A	3.37:g.38739171C>T	ENSP00000390600:p.Arg1847Gln						p.R1847Q	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	26	5540	-			1847					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.5540G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813906	0.70912	.	.	ENSG00000185313	ENST00000449082	D	0.95821	-3.82	5.28	5.28	0.74379	.	0.000000	0.53938	U	0.000055	D	0.91740	0.7388	M	0.71920	2.185	0.29790	N	0.83332	P	0.51057	0.941	B	0.30029	0.11	D	0.90501	0.4474	10	0.51188	T	0.08	.	9.6783	0.40054	0.0:0.8479:0.0:0.1521	.	1847	Q9Y5Y9	SCNAA_HUMAN	Q	1847	ENSP00000390600:R1847Q	ENSP00000390600:R1847Q	R	-	2	0	SCN10A	38714175	0.977000	0.34250	1.000000	0.80357	0.973000	0.67179	2.537000	0.45702	2.737000	0.93849	0.655000	0.94253	CGA		0.473	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
ACKR2	1238	broad.mit.edu	37	3	42906816	42906816	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:42906816G>A	ENST00000422265.1	+	3	997	c.822G>A	c.(820-822)acG>acA	p.T274T	ACKR2_ENST00000442925.1_Silent_p.T274T|ACKR2_ENST00000273145.2_Silent_p.T274T|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	274					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TTCTGCATACGCTGTTGGACC	0.537																																						uc003cme.3																			0		p.T274M(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26						c.(820-822)acG>acA		Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.							230.0	189.0	203.0					3																	42906816		2203	4300	6503	SO:0001819	synonymous_variant	1238				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr3:42906816G>A	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.822G>A	3.37:g.42906816G>A						CCBP2_uc003cmf.3_Silent_p.T274T|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.T274T	p.T274T	NM_001296	NP_001287	O00590	CCBP2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	2	1000	+			274					B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	ENST00000422265.1	37	c.822G>A	CCDS2706.1																																																																																				0.537	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296	
PLXNB1	5364	broad.mit.edu	37	3	48463528	48463528	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:48463528G>A	ENST00000358536.4	-	6	1775	c.1506C>T	c.(1504-1506)tgC>tgT	p.C502C	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Silent_p.C502C|PLXNB1_ENST00000456774.1_Silent_p.C502C|PLXNB1_ENST00000296440.6_Silent_p.C502C	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	502					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAAGGAGCACGCACCACCCAC	0.557																																						uc003csw.2																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1504-1506)tgC>tgT		Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.							83.0	75.0	77.0					3																	48463528		2203	4300	6503	SO:0001819	synonymous_variant	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48463528G>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1506C>T	3.37:g.48463528G>A						PLXNB1_uc003csu.2_Silent_p.C502C|PLXNB1_uc003csx.2_Silent_p.C502C|PLXNB1_uc010hjx.1_Non-coding_Transcript	p.C502C	NM_002673	NP_002664	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	5	1776	-			502					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	37	c.1506C>T	CCDS2765.1																																																																																				0.557	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673	
SOX14	8403	broad.mit.edu	37	3	137484152	137484152	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:137484152G>A	ENST00000306087.1	+	1	574	c.526G>A	c.(526-528)Gcc>Acc	p.A176T		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	176					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						CCAGAACGGCGCCTTCGGCAG	0.667																																						uc003erm.2																			0				large_intestine(2)|lung(12)	14						c.(526-528)Gcc>Acc		Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.							14.0	12.0	13.0					3																	137484152		2181	4275	6456	SO:0001583	missense	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137484152G>A	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.526G>A	3.37:g.137484152G>A	ENSP00000305343:p.Ala176Thr						p.A176T	NM_004189	NP_004180	O95416	SOX14_HUMAN			0	1019	+			176					B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	c.526G>A	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543283	0.86022	.	.	ENSG00000168875	ENST00000306087	D	0.96745	-4.11	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.93822	0.8024	M	0.62723	1.935	0.80722	D	1	P	0.37500	0.597	B	0.23716	0.048	D	0.93792	0.7093	10	0.39692	T	0.17	.	17.5355	0.87829	0.0:0.0:1.0:0.0	.	176	O95416	SOX14_HUMAN	T	176	ENSP00000305343:A176T	ENSP00000305343:A176T	A	+	1	0	SOX14	138966842	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.558000	0.98132	2.379000	0.81126	0.407000	0.27541	GCC		0.667	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189	
ATR	545	broad.mit.edu	37	3	142183989	142183989	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:142183989C>A	ENST00000350721.4	-	41	7112	c.6991G>T	c.(6991-6993)Gac>Tac	p.D2331Y	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.D2267Y	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2331	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTCTCAGGTCATCTTTTGGC	0.299								Other conserved DNA damage response genes																														uc003eux.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(6991-6993)Gac>Tac	Other conserved DNA damage response genes	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.							84.0	77.0	80.0					3																	142183989		2202	4298	6500	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142183989C>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6991G>T	3.37:g.142183989C>A	ENSP00000343741:p.Asp2331Tyr					ATR_uc003euy.1_Missense_Mutation_p.D217Y	p.D2331Y	NM_001184	NP_001175	Q13535	ATR_HUMAN			40	7113	-			2331			PI3K/PI4K.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.6991G>T	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.652940|4.652940	0.88056|0.88056	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	D;D|.	0.91180|.	-2.8;-2.8|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.91185|.	0.7223|.	H|H	0.98918|0.98918	4.37|4.37	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.81914|.	0.995|.	D|.	0.94847|.	0.8010|.	10|.	0.87932|.	D|.	0|.	-3.716|-3.716	18.7468|18.7468	0.91795|0.91795	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2331|.	Q13535|.	ATR_HUMAN|.	Y|L	2331;2267|177	ENSP00000343741:D2331Y;ENSP00000372581:D2267Y|.	ENSP00000343741:D2331Y|.	D|X	-|-	1|2	0|2	ATR|ATR	143666679|143666679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.804000|7.804000	0.85993|0.85993	2.418000|2.418000	0.82041|0.82041	0.585000|0.585000	0.79938|0.79938	GAC|TGA		0.299	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
NSUN7	79730	broad.mit.edu	37	4	40800851	40800851	+	Nonsense_Mutation	SNP	G	G	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr4:40800851G>T	ENST00000381782.2	+	10	1825	c.1330G>T	c.(1330-1332)Gaa>Taa	p.E444*	NSUN7_ENST00000316607.5_Nonsense_Mutation_p.E444*	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	444							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AGTTTTTCCAGAAGAAAATGA	0.343																																						uc003gvj.4																			0				NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(1330-1332)Gaa>Taa		Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.							96.0	100.0	99.0					4																	40800851		2202	4299	6501	SO:0001587	stop_gained	79730							g.chr4:40800851G>T	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.1330G>T	4.37:g.40800851G>T	ENSP00000371201:p.Glu444*					NSUN7_uc003gvi.4_Nonsense_Mutation_p.E444*	p.E444*	NM_024677	NP_078953					9	1825	+								C9JI19|Q8N9K8|Q9H815	Nonsense_Mutation	SNP	ENST00000381782.2	37	c.1330G>T	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	G	43	10.201409	0.99358	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	.	.	.	5.12	4.26	0.50523	.	0.050720	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-16.8559	15.3816	0.74661	0.0:0.1403:0.8597:0.0	.	.	.	.	X	444	.	ENSP00000319127:E444X	E	+	1	0	NSUN7	40495608	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	6.672000	0.74477	1.264000	0.44198	0.655000	0.94253	GAA		0.343	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677	
NPY5R	4889	broad.mit.edu	37	4	164271493	164271493	+	Missense_Mutation	SNP	G	G	A	rs375176738		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr4:164271493G>A	ENST00000515560.1	+	4	1590	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	NPY5R_ENST00000506953.1_Missense_Mutation_p.R23Q|NPY5R_ENST00000338566.3_Missense_Mutation_p.R23Q			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	23					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.R23L(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GCTGCCACTCGGAATTCTGAT	0.378																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.3																			1	Substitution - Missense(1)	p.R23L(2)	lung(1)	NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(67-69)cGg>cAg		Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	73.0	73.0	73.0		68	4.5	0.7	4		73	0,8600		0,0,4300	no	missense	NPY5R	NM_006174.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	23/446	164271493	1,13005	2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271493G>A	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.68G>A	4.37:g.164271493G>A	ENSP00000423917:p.Arg23Gln					NPY5R_uc021xtw.1_Missense_Mutation_p.R23Q	p.R23Q	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			3	250	+	all_hematologic(180;0.166)	Prostate(90;0.109)	23					Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.68G>A	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767625	0.31320	2.27E-4	0.0	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.70749	-0.51;-0.51;-0.51	5.35	4.5	0.54988	.	0.429875	0.17046	N	0.189114	T	0.49712	0.1573	N	0.24115	0.695	0.09310	N	1	B	0.19331	0.035	B	0.04013	0.001	T	0.21552	-1.0242	10	0.13853	T	0.58	.	6.4164	0.21719	0.1344:0.0:0.6945:0.1711	.	23	Q15761	NPY5R_HUMAN	Q	23	ENSP00000339377:R23Q;ENSP00000423917:R23Q;ENSP00000423474:R23Q	ENSP00000339377:R23Q	R	+	2	0	NPY5R	164490943	0.014000	0.17966	0.653000	0.29593	0.996000	0.88848	0.401000	0.20948	2.668000	0.90789	0.655000	0.94253	CGG		0.378	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174	
ADAM29	11086	broad.mit.edu	37	4	175897289	175897289	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr4:175897289G>A	ENST00000359240.3	+	5	1283	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.V205I|ADAM29_ENST00000445694.1_Missense_Mutation_p.V205I|ADAM29_ENST00000404450.4_Missense_Mutation_p.V205I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	205	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.		V -> I (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V205I(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AATTGTAGTCGTCATTGATAA	0.348																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.3																			2	Substitution - Missense(2)	p.V205I(4)|p.V204V(1)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(613-615)Gtc>Atc		Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.							86.0	87.0	87.0					4																	175897289		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897289G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.613G>A	4.37:g.175897289G>A	ENSP00000352177:p.Val205Ile					ADAM29_uc003iud.3_Missense_Mutation_p.V205I|ADAM29_uc010irr.3_Missense_Mutation_p.V205I|ADAM29_uc011cki.2_Missense_Mutation_p.V205I|ADAM29_uc021xuo.1_Missense_Mutation_p.V205I	p.V205I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	4	1283	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	205		V -> I (in a colorectal cancer sample; somatic mutation).	Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.613G>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504909	0.44558	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	3.74	2.9	0.33743	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.330976	0.16461	N	0.213409	T	0.75627	0.3875	M	0.64080	1.96	0.09310	N	1	D	0.59357	0.985	P	0.58970	0.849	T	0.63435	-0.6638	9	.	.	.	.	7.3233	0.26540	0.1206:0.0:0.8794:0.0	.	205	Q9UKF5	ADA29_HUMAN	I	205	ENSP00000352177:V205I;ENSP00000414544:V205I;ENSP00000384229:V205I;ENSP00000423517:V205I	.	V	+	1	0	ADAM29	176133864	0.714000	0.27936	0.004000	0.12327	0.001000	0.01503	1.522000	0.35921	1.155000	0.42497	0.643000	0.83706	GTC		0.348	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
IL31RA	133396	broad.mit.edu	37	5	55206410	55206410	+	Nonsense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:55206410C>T	ENST00000447346.2	+	12	1617	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	IL31RA_ENST00000354961.4_Nonsense_Mutation_p.R499*|IL31RA_ENST00000490985.1_Nonsense_Mutation_p.R376*|IL31RA_ENST00000359040.5_Nonsense_Mutation_p.R518*|IL31RA_ENST00000396834.1_Nonsense_Mutation_p.R499*	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	486					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTCCCTGAAACGAAAGACCTC	0.458																																						uc003jql.3																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(1552-1554)Cga>Tga		Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.							154.0	133.0	140.0					5																	55206410		2203	4300	6503	SO:0001587	stop_gained	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55206410C>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1552C>T	5.37:g.55206410C>T	ENSP00000415900:p.Arg518*					IL31RA_uc003jqm.3_Nonsense_Mutation_p.R499*|IL31RA_uc003jqn.3_Nonsense_Mutation_p.R518*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.R481*|IL31RA_uc021xyq.1_Nonsense_Mutation_p.R499*|IL31RA_uc003jqo.3_Nonsense_Mutation_p.R376*	p.R518*	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN			11	1744	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	486					A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Nonsense_Mutation	SNP	ENST00000447346.2	37	c.1552C>T	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	C	36	5.712139	0.96830	.	.	ENSG00000164509	ENST00000396834;ENST00000447346;ENST00000359040;ENST00000490985;ENST00000354961	.	.	.	5.01	1.95	0.26073	.	0.418178	0.24452	N	0.038419	.	.	.	.	.	.	0.46701	D	0.999167	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-0.1362	7.839	0.29387	0.4624:0.3876:0.15:0.0	.	.	.	.	X	499;518;518;376;499	.	ENSP00000347047:R499X	R	+	1	2	IL31RA	55242167	0.763000	0.28462	0.821000	0.32701	0.840000	0.47671	0.946000	0.29069	0.754000	0.32968	0.557000	0.71058	CGA		0.458	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017	
GABRB2	2561	broad.mit.edu	37	5	160721153	160721153	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:160721153G>A	ENST00000393959.1	-	10	1473	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C	GABRB2_ENST00000274547.2_Missense_Mutation_p.R492C|GABRB2_ENST00000353437.6_Missense_Mutation_p.R454C|GABRB2_ENST00000520240.1_Missense_Mutation_p.R454C|GABRB2_ENST00000517901.1_Missense_Mutation_p.R391C|GABRB2_ENST00000517547.1_Missense_Mutation_p.R294C			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	492					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAGAATATGCGGGACCACCGA	0.468																																						uc003lys.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1474-1476)Cgc>Tgc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						137.0	131.0	133.0					5																	160721153		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160721153G>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1474C>T	5.37:g.160721153G>A	ENSP00000377531:p.Arg492Cys					GABRB2_uc011deh.1_Missense_Mutation_p.R293C|GABRB2_uc003lyr.1_Missense_Mutation_p.R454C|GABRB2_uc003lyt.1_Missense_Mutation_p.R454C	p.R492C	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1692	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	492					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.1474C>T	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012333	0.75046	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95172	0.8435	M	0.82433	2.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;0.999;1.0;0.999	D	0.95197	0.8313	10	0.87932	D	0	.	19.9447	0.97177	0.0:0.0:1.0:0.0	.	294;391;492;454	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	C	492;492;454;454;391;294	ENSP00000377531:R492C;ENSP00000274547:R492C;ENSP00000274546:R454C;ENSP00000429320:R454C;ENSP00000430532:R391C;ENSP00000429750:R294C	ENSP00000274547:R492C	R	-	1	0	GABRB2	160653731	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	2.487000	0.45268	2.719000	0.93026	0.655000	0.94253	CGC		0.468	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1		
GABRA6	2559	broad.mit.edu	37	5	161113291	161113291	+	Missense_Mutation	SNP	G	G	T	rs200373173	byFrequency	TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:161113291G>T	ENST00000274545.5	+	2	527	c.94G>T	c.(94-96)Gtc>Ttc	p.V32F	GABRA6_ENST00000523217.1_Missense_Mutation_p.V32F|GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	32					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTCAGAAAACGTCAGTCGGAT	0.488										TCGA Ovarian(5;0.080)																												uc003lyu.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(94-96)Gtc>Ttc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						109.0	110.0	110.0					5																	161113291		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161113291G>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.94G>T	5.37:g.161113291G>T	ENSP00000274545:p.Val32Phe	TCGA Ovarian(5;0.080)					p.V32F	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	432	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	32					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.94G>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	7.595	0.671490	0.14776	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	T;T	0.78003	-1.14;-1.14	5.63	1.24	0.21308	Neurotransmitter-gated ion-channel ligand-binding (2);	0.149182	0.64402	D	0.000017	T	0.49660	0.1570	N	0.04636	-0.2	0.31570	N	0.656384	B	0.02656	0.0	B	0.09377	0.004	T	0.42378	-0.9455	10	0.10636	T	0.68	.	8.5345	0.33355	0.7172:0.0:0.2828:0.0	.	32	Q16445	GBRA6_HUMAN	F	32	ENSP00000274545:V32F;ENSP00000430527:V32F	ENSP00000274545:V32F	V	+	1	0	GABRA6	161045869	0.406000	0.25344	0.390000	0.26220	0.354000	0.29330	0.911000	0.28584	0.008000	0.14787	-0.290000	0.09829	GTC		0.488	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
GABRP	2568	broad.mit.edu	37	5	170222299	170222299	+	Missense_Mutation	SNP	C	C	T	rs145233692		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:170222299C>T	ENST00000518525.1	+	6	792	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	GABRP_ENST00000519385.1_Missense_Mutation_p.R110C|GABRP_ENST00000265294.4_Missense_Mutation_p.R110C|GABRP_ENST00000519598.1_Missense_Mutation_p.R110C			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	110					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R110S(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCTGGATGCCCGCCTCGTGGA	0.562																																						uc003mau.3																			1	Substitution - Missense(1)	p.R110S(2)|p.R110H(1)	lung(1)	NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29						c.(328-330)Cgc>Tgc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.		C	CYS/ARG	0,4406		0,0,2203	121.0	124.0	123.0		328	5.6	0.9	5	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	GABRP	NM_014211.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	110/441	170222299	1,13005	2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170222299C>T	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.328C>T	5.37:g.170222299C>T	ENSP00000430100:p.Arg110Cys					GABRP_uc011dev.2_Missense_Mutation_p.R110C	p.R110C	NM_014211	NP_055026	O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	526	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	110					A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.328C>T	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304662	0.81136	0.0	1.16E-4	ENSG00000094755	ENST00000521481;ENST00000522868;ENST00000518525;ENST00000265294;ENST00000519385;ENST00000519598	T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.59	5.59	0.84812	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.967	D	0.90223	0.4273	10	0.72032	D	0.01	.	19.5561	0.95349	0.0:1.0:0.0:0.0	.	110;110	E7EWG0;O00591	.;GBRP_HUMAN	C	110	ENSP00000428804:R110C;ENSP00000430188:R110C;ENSP00000430100:R110C;ENSP00000265294:R110C;ENSP00000430727:R110C;ENSP00000430772:R110C	ENSP00000265294:R110C	R	+	1	0	GABRP	170154877	0.975000	0.34042	0.921000	0.36526	0.983000	0.72400	2.462000	0.45049	2.784000	0.95788	0.643000	0.83706	CGC		0.562	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211	
HRH2	3274	broad.mit.edu	37	5	175110333	175110333	+	Missense_Mutation	SNP	G	G	A	rs372317500		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:175110333G>A	ENST00000231683.2	+	1	1870	c.97G>A	c.(97-99)Gtt>Att	p.V33I	HRH2_ENST00000377291.2_Missense_Mutation_p.V33I	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	33					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	CCTCATCACCGTTGCTGGCAA	0.572																																						uc003mdc.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(97-99)Gtt>Att		Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	252.0	219.0	230.0		97,97	-9.4	0.0	5		230	0,8600		0,0,4300	no	missense,missense	HRH2	NM_001131055.1,NM_022304.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	33/398,33/360	175110333	1,13005	2203	4300	6503	SO:0001583	missense	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110333G>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.97G>A	5.37:g.175110333G>A	ENSP00000231683:p.Val33Ile					HRH2_uc003mdd.2_Missense_Mutation_p.V33I	p.V33I	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	741	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	33					B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.97G>A	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	0.114	-1.134614	0.01742	2.27E-4	0.0	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.37235	1.21;1.21	5.34	-9.37	0.00626	.	0.785963	0.11924	N	0.516375	T	0.14614	0.0353	N	0.08118	0	0.09310	N	1	B;B	0.15719	0.003;0.014	B;B	0.06405	0.002;0.001	T	0.33007	-0.9885	10	0.10377	T	0.69	.	16.662	0.85243	0.2761:0.0765:0.6473:0.0	.	33;33	P25021;Q7Z5R9	HRH2_HUMAN;.	I	33	ENSP00000366506:V33I;ENSP00000231683:V33I	ENSP00000231683:V33I	V	+	1	0	HRH2	175042939	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.617000	0.05584	-2.399000	0.00580	-1.587000	0.00848	GTT		0.572	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1		
C6orf15	29113	broad.mit.edu	37	6	31079167	31079167	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:31079167C>A	ENST00000259870.3	-	2	972	c.969G>T	c.(967-969)caG>caT	p.Q323H		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	323					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TCTAGCCCCACTGCAACCTAG	0.562																																						uc003nsk.1																			0				endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						c.(967-969)caG>caT		Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.							21.0	19.0	20.0					6																	31079167		1732	3379	5111	SO:0001583	missense	29113							g.chr6:31079167C>A	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.969G>T	6.37:g.31079167C>A	ENSP00000259870:p.Gln323His						p.Q323H	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN			1	969	-			323					B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Missense_Mutation	SNP	ENST00000259870.3	37	c.969G>T	CCDS4693.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659349	0.47467	.	.	ENSG00000204542	ENST00000259870	T	0.08102	3.13	4.38	1.13	0.20643	.	1.496860	0.04375	N	0.359826	T	0.09335	0.0230	L	0.57536	1.79	0.09310	N	1	D	0.69078	0.997	D	0.64237	0.923	T	0.13282	-1.0515	10	0.87932	D	0	-1.4938	3.6668	0.08258	0.2593:0.5371:0.0:0.2037	.	323	Q6UXA7	CF015_HUMAN	H	323	ENSP00000259870:Q323H	ENSP00000259870:Q323H	Q	-	3	2	C6orf15	31187146	0.012000	0.17670	0.006000	0.13384	0.147000	0.21601	0.610000	0.24253	0.070000	0.16634	-0.148000	0.13756	CAG		0.562	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070	
KCNQ5	56479	broad.mit.edu	37	6	73787150	73787150	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:73787150G>A	ENST00000370398.1	+	4	831	c.722G>A	c.(721-723)cGc>cAc	p.R241H	KCNQ5_ENST00000370392.1_Missense_Mutation_p.R241H|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R241H|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R241H|KCNQ5_ENST00000342056.2_Missense_Mutation_p.R241H|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R241H|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R241H|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R241H	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	241					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.R241H(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CAGATCCTCCGCATGGTGCGC	0.443																																					GBM(142;1375 1859 14391 23261 44706)	uc011dyh.2																			1	Substitution - Missense(1)	p.R241H(2)	ovary(1)	breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(721-723)cGc>cAc		Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.							85.0	80.0	82.0					6																	73787150		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73787150G>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.722G>A	6.37:g.73787150G>A	ENSP00000359425:p.Arg241His					KCNQ5_uc003pgj.4_Missense_Mutation_p.R241H|KCNQ5_uc011dyi.2_Missense_Mutation_p.R241H|KCNQ5_uc010kat.3_Missense_Mutation_p.R241H|KCNQ5_uc003pgk.3_Missense_Mutation_p.R241H|KCNQ5_uc011dyj.2_Missense_Mutation_p.R241H|KCNQ5_uc011dyk.2_5'UTR	p.R241H	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	3	1069	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	241					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.722G>A	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	35	5.487480	0.96323	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15	5.84	5.84	0.93424	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99507	0.9824	H	0.95187	3.635	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.992;0.996;0.987;0.995;0.997;0.99	D	0.98492	1.0610	10	0.87932	D	0	.	20.1438	0.98071	0.0:0.0:1.0:0.0	.	241;241;241;241;241;241	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	H	241	ENSP00000345055:R241H;ENSP00000347326:R241H;ENSP00000359425:R241H;ENSP00000359419:R241H;ENSP00000385501:R241H;ENSP00000347853:R241H;ENSP00000384453:R241H;ENSP00000409861:R241H	ENSP00000345055:R241H	R	+	2	0	KCNQ5	73843871	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	9.869000	0.99810	2.768000	0.95171	0.650000	0.86243	CGC		0.443	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	
PRDM13	59336	broad.mit.edu	37	6	100062050	100062050	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:100062050G>A	ENST00000369215.4	+	4	1844	c.1539G>A	c.(1537-1539)ggG>ggA	p.G513G		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	513					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CCGAGCTGGGGTCGCTGGCCA	0.662																																						uc003pqg.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(1537-1539)ggG>ggA		Homo sapiens PR domain containing 13 (PRDM13), mRNA.							13.0	16.0	15.0					6																	100062050		1981	4137	6118	SO:0001819	synonymous_variant	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100062050G>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1539G>A	6.37:g.100062050G>A							p.G513G	NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	3	1800	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	513					Q5TGC1|Q5TGC2	Silent	SNP	ENST00000369215.4	37	c.1539G>A	CCDS43487.1																																																																																				0.662	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2		
BEND3	57673	broad.mit.edu	37	6	107391831	107391831	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:107391831G>A	ENST00000369042.1	-	4	754	c.564C>T	c.(562-564)aaC>aaT	p.N188N	BEND3_ENST00000429433.2_Silent_p.N188N			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	188										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TGTTGGGGTCGTTGTCAGTGC	0.577																																						uc003prs.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(562-564)aaC>aaT		Homo sapiens BEN domain containing 3 (BEND3), mRNA.							142.0	110.0	121.0					6																	107391831		2203	4300	6503	SO:0001819	synonymous_variant	57673							g.chr6:107391831G>A	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.564C>T	6.37:g.107391831G>A							p.N188N	NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN			4	1214	-			188					A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	c.564C>T	CCDS34507.1																																																																																				0.577	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913	
SGK1	6446	broad.mit.edu	37	6	134492161	134492161	+	Splice_Site	DEL	G	G	-			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:134492161delG	ENST00000237305.7	-	10	1126	c.1038delC	c.(1036-1038)ttc>tt	p.F346fs	SGK1_ENST00000413996.3_Splice_Site_p.F360fs|SGK1_ENST00000367858.5_Splice_Site_p.F441fs|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000475719.2_Splice_Site_p.F302fs|SGK1_ENST00000367857.5_Splice_Site_p.F336fs|SGK1_ENST00000528577.1_Splice_Site_p.F374fs	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	346	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.F346F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CATCACTCACGAAGTCATCCT	0.527																																						uc003qen.4																			1	Substitution - coding silent(1)	p.F346F(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.e10+1		Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.							72.0	70.0	71.0					6																	134492161		2203	4300	6503	SO:0001630	splice_region_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134492161delG	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.1038+1C>-	6.37:g.134492161delG						SGK1_uc003qeo.4_Splice_Site_p.F441_splice|SGK1_uc011ect.2_Splice_Site_p.F336_splice|SGK1_uc011ecu.2_Splice_Site_p.F302_splice|SGK1_uc011ecv.2_Splice_Site_p.F360_splice|SGK1_uc011ecw.2_Splice_Site_p.F374_splice	p.F346_splice	NM_005627	NP_005618	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	10	1127	-	Colorectal(23;0.221)		346			Protein kinase.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Frame_Shift_Del	DEL	ENST00000237305.7	37	c.1038_splice	CCDS5170.1																																																																																				0.527	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2		Frame_Shift_Del
KIAA1244	57221	broad.mit.edu	37	6	138612912	138612912	+	Silent	SNP	C	C	T	rs373777982		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:138612912C>T	ENST00000251691.4	+	19	3256	c.3090C>T	c.(3088-3090)agC>agT	p.S1030S		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACCACTTCAGCGATGGTGCCT	0.647																																						uc003qhu.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(3088-3090)agC>agT		Homo sapiens KIAA1244 (KIAA1244), mRNA.		C		1,4401		0,1,2200	24.0	26.0	25.0		3090	-5.8	0.1	6		25	0,8598		0,0,4299	no	coding-synonymous	KIAA1244	NM_020340.4		0,1,6499	TT,TC,CC		0.0,0.0227,0.0077		1030/2178	138612912	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138612912C>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3090C>T	6.37:g.138612912C>T							p.S1030S	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	18	3261	+	Breast(32;0.135)		1030						Silent	SNP	ENST00000251691.4	37	c.3090C>T	CCDS5189.2																																																																																				0.647	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
DNAH11	8701	broad.mit.edu	37	7	21583201	21583201	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:21583201C>T	ENST00000409508.3	+	1	369	c.338C>T	c.(337-339)gCg>gTg	p.A113V	DNAH11_ENST00000328843.6_Missense_Mutation_p.A113V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	113	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGGCGCCTTGCGGCTTCCCAG	0.617									Kartagener syndrome																													uc003svc.3																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(337-339)gCg>gTg		Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.																																				SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21583201C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.338C>T	7.37:g.21583201C>T	ENSP00000475939:p.Ala113Val						p.A113V	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			0	369	+			113			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.338C>T		.	.	.	.	.	.	.	.	.	.	C	2.560	-0.302108	0.05495	.	.	ENSG00000105877	ENST00000328843	T	0.22336	1.96	4.12	-4.24	0.03777	.	2.505970	0.01465	N	0.016050	T	0.08582	0.0213	N	0.12182	0.205	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.15925	-1.0420	10	0.09843	T	0.71	.	0.5378	0.00640	0.3895:0.2236:0.1277:0.2592	.	113	Q96DT5	DYH11_HUMAN	V	113	ENSP00000330671:A113V	ENSP00000330671:A113V	A	+	2	0	DNAH11	21549726	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.624000	0.05540	-1.171000	0.02765	-1.954000	0.00483	GCG		0.617	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
STK31	56164	broad.mit.edu	37	7	23802525	23802525	+	Missense_Mutation	SNP	C	C	T	rs199698256		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:23802525C>T	ENST00000355870.3	+	11	1518	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	STK31_ENST00000433467.2_Missense_Mutation_p.R467C|STK31_ENST00000428484.1_Missense_Mutation_p.R444C|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Missense_Mutation_p.R444C	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	467						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.R467C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTTAATAAACGCTTAAAAAC	0.289																																						uc003sws.4																			1	Substitution - Missense(1)	p.R467C(2)	kidney(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1399-1401)Cgc>Tgc		Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	64.0	65.0	65.0		1330,1399,1330	5.2	1.0	7		65	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense,missense	STK31	NM_001122833.1,NM_031414.3,NM_032944.2	180,180,180	0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	444/997,467/1020,444/997	23802525	2,13002	2203	4299	6502	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23802525C>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1399C>T	7.37:g.23802525C>T	ENSP00000348132:p.Arg467Cys					STK31_uc003swt.4_Missense_Mutation_p.R444C|STK31_uc011jze.2_Missense_Mutation_p.R467C|STK31_uc010kuq.3_Missense_Mutation_p.R444C	p.R467C	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN			10	1466	+			467					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1399C>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875565	0.72180	2.27E-4	1.16E-4	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.10177	-1.0641	10	0.87932	D	0	-4.5156	17.9644	0.89096	0.0:1.0:0.0:0.0	.	467;467	B4DZ06;Q9BXU1	.;STK31_HUMAN	C	467;467;444;444	ENSP00000348132:R467C;ENSP00000411852:R467C;ENSP00000346660:R444C;ENSP00000406146:R444C	ENSP00000346660:R444C	R	+	1	0	STK31	23769050	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.530000	0.60595	2.610000	0.88304	0.585000	0.79938	CGC		0.289	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	
NME8	51314	broad.mit.edu	37	7	37923916	37923916	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:37923916C>T	ENST00000199447.4	+	13	1378	c.1006C>T	c.(1006-1008)Cgt>Tgt	p.R336C	NME8_ENST00000440017.1_Missense_Mutation_p.R336C|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	336	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TGATGTTTTGCGTATTATTAA	0.303																																						uc003tfn.3																			0											c.(1006-1008)Cgt>Tgt		Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.							82.0	79.0	80.0					7																	37923916		2203	4294	6497	SO:0001583	missense	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37923916C>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1006C>T	7.37:g.37923916C>T	ENSP00000199447:p.Arg336Cys						p.R336C	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			12	1378	+			336			NDK 2.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.1006C>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	8.010	0.757219	0.15846	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.55760	0.5;0.5	3.95	-7.9	0.01169	.	2.988130	0.00839	N	0.001733	T	0.56217	0.1970	L	0.54323	1.7	0.09310	N	1	P	0.50819	0.939	P	0.53062	0.717	T	0.65809	-0.6078	10	0.59425	D	0.04	0.0213	8.6308	0.33917	0.2926:0.2311:0.4763:0.0	.	336	Q8N427	TXND3_HUMAN	C	336	ENSP00000199447:R336C;ENSP00000397063:R336C	ENSP00000199447:R336C	R	+	1	0	TXNDC3	37890441	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.848000	0.04326	-2.034000	0.00924	-1.081000	0.02215	CGT		0.303	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
HECW1	23072	broad.mit.edu	37	7	43360248	43360248	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:43360248G>A	ENST00000395891.2	+	5	972	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	HECW1_ENST00000453890.1_Missense_Mutation_p.E123K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	123					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGTCTTGTCCGAAAACTTTCT	0.428																																						uc003tid.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(367-369)Gaa>Aaa		Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.							104.0	101.0	102.0					7																	43360248		1868	4110	5978	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43360248G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.367G>A	7.37:g.43360248G>A	ENSP00000379228:p.Glu123Lys					HECW1_uc011kbi.1_Missense_Mutation_p.E123K|HECW1_uc003tie.1_Missense_Mutation_p.E155K	p.E123K	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			4	972	+			123					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.367G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	35	5.437450	0.96168	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.37915	1.17;1.17	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	0.998;0.988;1.0	P;P;D	0.75484	0.771;0.507;0.986	T	0.51679	-0.8675	10	0.41790	T	0.15	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	123;155;123	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	K	123;123;122	ENSP00000379228:E123K;ENSP00000407774:E123K	ENSP00000265522:E122K	E	+	1	0	HECW1	43326773	1.000000	0.71417	0.983000	0.44433	0.971000	0.66376	9.696000	0.98695	2.820000	0.97059	0.650000	0.86243	GAA		0.428	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
SSC4D	136853	broad.mit.edu	37	7	76019569	76019569	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:76019569C>T	ENST00000275560.3	-	11	1882	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GCCCAGCTGGCGGCACAGGAC	0.667																																						uc003ufb.3																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1534-1536)cGc>cAc		Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.							39.0	38.0	39.0					7																	76019569		2203	4298	6501	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76019569C>T																												ENST00000275560.3:c.1535G>A	7.37:g.76019569C>T	ENSP00000275560:p.Arg512His					SRCRB4D_uc003ufa.3_Missense_Mutation_p.A14T	p.R512H	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN			10	1883	-			512			SRCR 4.			Missense_Mutation	SNP	ENST00000275560.3	37	c.1535G>A	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351488	0.82132	.	.	ENSG00000146700	ENST00000275560	T	0.42900	0.96	5.81	-0.29	0.12847	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.119797	0.56097	D	0.000039	T	0.59115	0.2170	M	0.88310	2.945	0.36495	D	0.868685	D	0.61080	0.989	P	0.61592	0.891	T	0.62300	-0.6883	10	0.72032	D	0.01	.	6.1567	0.20342	0.1133:0.5675:0.0:0.3192	.	512	Q8WTU2	SRB4D_HUMAN	H	512	ENSP00000275560:R512H	ENSP00000275560:R512H	R	-	2	0	SRCRB4D	75857505	0.929000	0.31497	0.901000	0.35422	0.979000	0.70002	0.463000	0.21972	-0.353000	0.08224	-0.140000	0.14226	CGC		0.667	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3		
KIAA1324L	222223	broad.mit.edu	37	7	86521158	86521158	+	Missense_Mutation	SNP	T	T	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:86521158T>A	ENST00000450689.2	-	21	3097	c.2912A>T	c.(2911-2913)gAg>gTg	p.E971V	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E900V|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E804V|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E731V	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	971						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GAGTTCACACTCTTTTGAGTT	0.323																																						uc011kha.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2911-2913)gAg>gTg		Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.							81.0	74.0	76.0					7																	86521158		2203	4299	6502	SO:0001583	missense	222223					integral to membrane		g.chr7:86521158T>A	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2912A>T	7.37:g.86521158T>A	ENSP00000413445:p.Glu971Val					KIAA1324L_uc003uie.3_Missense_Mutation_p.E804V|KIAA1324L_uc011kgz.2_Missense_Mutation_p.E857V|KIAA1324L_uc003uif.2_Missense_Mutation_p.E723V	p.E971V	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			20	3097	-	Esophageal squamous(14;0.0058)		971					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2912A>T	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.3|27.3	4.814752|4.814752	0.90790|0.90790	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	T;T;T;T|.	0.21031|.	2.31;2.05;2.03;2.06|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.098566|.	0.64402|.	D|.	0.000001|.	T|T	0.73860|0.73860	0.3641|0.3641	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.996;0.996|.	D;P;P|.	0.77004|.	0.989;0.892;0.892|.	T|T	0.73630|0.73630	-0.3922|-0.3922	10|5	0.87932|.	D|.	0|.	.|.	15.5753|15.5753	0.76373|0.76373	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	971;731;804|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	V|S	971;731;900;804|931	ENSP00000413445:E971V;ENSP00000297222:E731V;ENSP00000397377:E900V;ENSP00000402390:E804V|.	ENSP00000297222:E731V|.	E|R	-|-	2|3	0|2	KIAA1324L|KIAA1324L	86359094|86359094	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	7.655000|7.655000	0.83696|0.83696	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	GAG|AGA		0.323	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	
MCM7	4176	broad.mit.edu	37	7	99693629	99693629	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:99693629G>A	ENST00000303887.5	-	11	2008	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C	MIR25_ENST00000384816.1_RNA|MCM7_ENST00000354230.3_Missense_Mutation_p.R279C|MIR93_ENST00000385024.1_RNA|MCM7_ENST00000343023.6_Intron|MIR106B_ENST00000385301.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	455	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGGCTGTGCGGTCGGCCTCA	0.612																																						uc003usw.1																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(1363-1365)Cgc>Tgc		Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	Atorvastatin(DB01076)						90.0	73.0	79.0					7																	99693629		2203	4300	6503	SO:0001583	missense	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99693629G>A		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1363C>T	7.37:g.99693629G>A	ENSP00000307288:p.Arg455Cys					MCM7_uc003usv.1_Missense_Mutation_p.R279C|MCM7_uc003usx.1_Missense_Mutation_p.R279C|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	p.R455C	NM_005916	NP_005907	P33993	MCM7_HUMAN			10	1873	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		455			MCM.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.1363C>T	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497628	0.85069	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.12672	2.66;2.66	5.02	5.02	0.67125	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71794	-0.4485	10	0.87932	D	0	-25.7031	10.8522	0.46777	0.0:0.0:0.8121:0.1879	.	455	P33993	MCM7_HUMAN	C	455;392;348;279	ENSP00000307288:R455C;ENSP00000346171:R279C	ENSP00000307288:R455C	R	-	1	0	MCM7	99531565	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.279000	0.72620	2.589000	0.87451	0.655000	0.94253	CGC		0.612	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3		
CPA2	1358	broad.mit.edu	37	7	129909521	129909521	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:129909521A>G	ENST00000222481.4	+	3	221	c.166A>G	c.(166-168)Aaa>Gaa	p.K56E		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	56					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TGATTTTTGGAAATCACCCAC	0.493																																						uc003vpq.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(166-168)Aaa>Gaa		Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.							126.0	122.0	123.0					7																	129909521		2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129909521A>G	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.166A>G	7.37:g.129909521A>G	ENSP00000222481:p.Lys56Glu					CPA2_uc011kpc.1_Missense_Mutation_p.K56E	p.K56E	NM_001869	NP_001860	P48052	CBPA2_HUMAN			2	185	+	Melanoma(18;0.0435)		56					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.166A>G	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	A	12.67	2.008554	0.35415	.	.	ENSG00000158516	ENST00000222481	T	0.14766	2.48	5.47	5.47	0.80525	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.487586	0.21137	N	0.079557	T	0.22282	0.0537	M	0.64404	1.975	0.31682	N	0.642992	B;P	0.36495	0.358;0.556	B;B	0.44278	0.275;0.445	T	0.15065	-1.0450	10	0.49607	T	0.09	.	11.4633	0.50223	0.8655:0.0:0.0:0.1345	.	54;56	B4DDX9;P48052	.;CBPA2_HUMAN	E	56	ENSP00000222481:K56E	ENSP00000222481:K56E	K	+	1	0	CPA2	129696757	0.108000	0.22018	0.945000	0.38365	0.111000	0.19643	0.475000	0.22164	2.199000	0.70637	0.533000	0.62120	AAA		0.493	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869	
NOS3	4846	broad.mit.edu	37	7	150699008	150699008	+	Silent	SNP	C	C	T	rs370755105		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:150699008C>T	ENST00000484524.1	+	12	1602	c.1602C>T	c.(1600-1602)taC>taT	p.Y534Y	NOS3_ENST00000467517.1_Silent_p.Y534Y|NOS3_ENST00000461406.1_Silent_p.Y328Y|NOS3_ENST00000297494.3_Silent_p.Y534Y	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGAGCTACGCACAGCAGC	0.637																																						uc003wif.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1600-1602)taC>taT		Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	T	,,,	0,4406		0,0,2203	40.0	43.0	42.0		1602,1602,1602,1602	-4.5	0.9	7		42	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NOS3	NM_000603.4,NM_001160109.1,NM_001160110.1,NM_001160111.1	,,,	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	,,,	534/1204,534/597,534/615,534/630	150699008	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150699008C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1602C>T	7.37:g.150699008C>T						NOS3_uc011kuy.2_Silent_p.Y328Y|NOS3_uc011kva.2_Silent_p.Y534Y|NOS3_uc011kuz.2_Silent_p.Y534Y|NOS3_uc011kvb.2_Silent_p.Y534Y	p.Y534Y	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	1898	+	all_neural(206;0.219)		534			Flavodoxin-like.		Q495E5	Silent	SNP	ENST00000484524.1	37	c.1602C>T	CCDS55182.1																																																																																				0.637	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603	
GFRA2	2675	broad.mit.edu	37	8	21608207	21608207	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr8:21608207G>A	ENST00000524240.1	-	4	1337	c.687C>T	c.(685-687)tgC>tgT	p.C229C	GFRA2_ENST00000400782.4_Silent_p.C124C|GFRA2_ENST00000518077.1_Silent_p.C96C|GFRA2_ENST00000517328.1_Silent_p.C229C	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	229					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGCGCTCAGCGCACGCCTGGT	0.657																																						uc003wzu.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7						c.(685-687)tgC>tgT		Homo sapiens GDNF family receptor alpha 2 (GFRA2), transcript variant 1, mRNA.							41.0	50.0	47.0					8																	21608207		2184	4280	6464	SO:0001819	synonymous_variant	2675					anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr8:21608207G>A	AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.687C>T	8.37:g.21608207G>A						GFRA2_uc003wzv.1_Silent_p.C124C|GFRA2_uc003wzw.1_Silent_p.C96C|DOK2_uc003wzx.1_Intron	p.C229C	NM_001495	NP_001486	O00451	GFRA2_HUMAN		Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	3	1362	-			229					E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Silent	SNP	ENST00000524240.1	37	c.687C>T	CCDS47816.1																																																																																				0.657	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	NM_001495	
FAM150A	389658	broad.mit.edu	37	8	53452429	53452429	+	Missense_Mutation	SNP	C	C	T	rs145116532	byFrequency	TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr8:53452429C>T	ENST00000358543.4	-	3	537	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	FAM150A_ENST00000523939.1_Missense_Mutation_p.R96Q	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	96						extracellular region (GO:0005576)				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				GTAATAGAGTCGGTGGAAATG	0.363													C|||	2	0.000399361	0.0	0.0	5008	,	,		17018	0.001		0.0	False		,,,				2504	0.001					uc003xrd.3																			0				lung(1)	1						c.(286-288)cGa>cAa		Homo sapiens family with sequence similarity 150, member A (FAM150A), mRNA.		C	GLN/ARG	0,4406		0,0,2203	102.0	101.0	101.0		287	5.5	0.1	8	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM150A	NM_207413.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	96/130	53452429	1,13005	2203	4300	6503	SO:0001583	missense	389658					extracellular region		g.chr8:53452429C>T		CCDS6150.1	8q11.23	2007-12-18			ENSG00000196711	ENSG00000196711			33775	protein-coding gene	gene with protein product							Standard	NM_207413		Approved	UNQ9433	uc003xrd.3	Q6UXT8	OTTHUMG00000164256	ENST00000358543.4:c.287G>A	8.37:g.53452429C>T	ENSP00000351345:p.Arg96Gln					FAM150A_uc011ldt.2_Missense_Mutation_p.R96Q	p.R96Q	NM_207413	NP_997296	Q6UXT8	F150A_HUMAN			2	492	-		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)	96					B7ZMG9	Missense_Mutation	SNP	ENST00000358543.4	37	c.287G>A	CCDS6150.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210169	0.79240	0.0	1.16E-4	ENSG00000196711	ENST00000358543;ENST00000523939	.	.	.	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000014	T	0.77731	0.4174	M	0.62723	1.935	0.38749	D	0.954054	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.80817	-0.1213	9	0.72032	D	0.01	.	18.0874	0.89462	0.0:1.0:0.0:0.0	.	96;96	B7ZMG9;Q6UXT8	.;F150A_HUMAN	Q	96	.	ENSP00000351345:R96Q	R	-	2	0	FAM150A	53614982	1.000000	0.71417	0.102000	0.21198	0.680000	0.39746	5.746000	0.68681	2.565000	0.86533	0.563000	0.77884	CGA		0.363	FAM150A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377959.1	NM_207413	
CSMD3	114788	broad.mit.edu	37	8	114326801	114326801	+	Splice_Site	SNP	T	T	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr8:114326801T>A	ENST00000297405.5	-	2	644	c.400A>T	c.(400-402)Agg>Tgg	p.R134W	CSMD3_ENST00000343508.3_Splice_Site_p.R94W|CSMD3_ENST00000455883.2_Splice_Site_p.R134W|CSMD3_ENST00000352409.3_Splice_Site_p.R134W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	134	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACACTAACCTTGTCCTAAAG	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e2+1		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							102.0	96.0	98.0					8																	114326801		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:114326801T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.401+1A>T	8.37:g.114326801T>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.3_Splice_Site_p.R94_splice|CSMD3_uc011lhx.2_Splice_Site_p.R134_splice|CSMD3_uc010mcx.1_Splice_Site_p.R134_splice|CSMD3_uc003ynx.4_Missense_Mutation_p.R134W	p.R134_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			2	560	-			134			CUB 1.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.401_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743693	0.69418	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.72	5.72	0.89469	CUB (5);	0.000000	0.64402	U	0.000002	T	0.51719	0.1691	M	0.86097	2.795	0.41691	D	0.989346	P;D;D;D;D	0.89917	0.924;0.985;0.997;1.0;0.996	P;P;D;D;P	0.85130	0.705;0.768;0.972;0.997;0.905	T	0.59506	-0.7442	10	0.72032	D	0.01	.	15.1878	0.73020	0.0:0.0:0.0:1.0	.	134;134;134;134;94	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407;Q7Z407-2	.;.;.;CSMD3_HUMAN;.	W	94;134;134;134	ENSP00000345799:R94W;ENSP00000297405:R134W;ENSP00000412263:R134W;ENSP00000343124:R134W	ENSP00000297405:R134W	R	-	1	2	CSMD3	114395977	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.033000	0.88852	2.178000	0.69098	0.455000	0.32223	AGG		0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation
PTPN3	5774	broad.mit.edu	37	9	112185070	112185070	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr9:112185070C>T	ENST00000374541.2	-	13	1168	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q	PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000412145.1_Missense_Mutation_p.R224Q	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	355					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TAAGGATCTCCGCATGGCTGG	0.453																																						uc004bed.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1063-1065)cGg>cAg		Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.							208.0	193.0	198.0					9																	112185070		2203	4300	6503	SO:0001583	missense	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112185070C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1064G>A	9.37:g.112185070C>T	ENSP00000363667:p.Arg355Gln					PTPN3_uc004beb.2_Missense_Mutation_p.R224Q|PTPN3_uc004bec.2_Intron|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Intron|PTPN3_uc011lwh.1_Intron|PTPN3_uc011lwe.1_Missense_Mutation_p.R68Q|PTPN3_uc011lwf.1_Intron	p.R355Q	NM_002829	NP_001138843	P26045	PTN3_HUMAN			12	1176	-			355					A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.1064G>A	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398701	0.62177	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000374541	T;T	0.61274	0.12;0.12	5.55	3.6	0.41247	.	0.156133	0.52532	N	0.000063	T	0.57373	0.2049	L	0.52573	1.65	0.80722	D	1	D	0.63046	0.992	P	0.50109	0.631	T	0.57877	-0.7735	10	0.42905	T	0.14	.	11.218	0.48838	0.0:0.8457:0.0:0.1543	.	355	P26045	PTN3_HUMAN	Q	355;224;355	ENSP00000416654:R224Q;ENSP00000363667:R355Q	ENSP00000363667:R355Q	R	-	2	0	PTPN3	111224891	0.921000	0.31238	1.000000	0.80357	0.996000	0.88848	1.011000	0.29911	1.249000	0.43950	0.650000	0.86243	CGG		0.453	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		
AKAP2	11217	broad.mit.edu	37	9	112900697	112900697	+	Missense_Mutation	SNP	G	G	A	rs139808664		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr9:112900697G>A	ENST00000259318.7	+	2	2387	c.2180G>A	c.(2179-2181)cGa>cAa	p.R727Q	AKAP2_ENST00000374525.1_Missense_Mutation_p.R816Q|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000434623.2_Missense_Mutation_p.R816Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R958Q|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R958Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.R958Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.R958Q	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	727										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GAAGAGATCCGAGCAGCTCAG	0.552																																						uc004bei.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(3568-3570)cGa>cAa		Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	84.0	78.0	80.0		2447,2180,2447,2873,2873	6.2	1.0	9	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	AKAP2,PALM2-AKAP2	NM_001004065.4,NM_001136562.2,NM_001198656.1,NM_007203.4,NM_147150.2	43,43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	816/949,727/860,816/962,958/1104,958/1091	112900697	1,13005	2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112900697G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.2180G>A	9.37:g.112900697G>A	ENSP00000259318:p.Arg727Gln					PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.R958Q|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.R958Q|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R768Q|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.R816Q|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.R816Q|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R776Q|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.R727Q|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.R727Q	p.R1190Q	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			8	3761	+			727					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.3569G>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030617	0.93575	0.0	1.16E-4	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.56941	1.41;1.41;1.41;1.41;1.41;1.41;0.43;1.41	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.73257	0.3564	M	0.65498	2.005	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.981;0.997;0.998;0.997;0.994;0.999;0.999;0.998	T	0.72707	-0.4212	10	0.72032	D	0.01	-13.1489	19.8676	0.96824	0.0:0.0:1.0:0.0	.	727;816;810;816;817;958;958;776	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	Q	958;958;958;958;816;816;776;727	ENSP00000363654:R958Q;ENSP00000305861:R958Q;ENSP00000451476:R958Q;ENSP00000421522:R958Q;ENSP00000404782:R816Q;ENSP00000363649:R816Q;ENSP00000419268:R776Q;ENSP00000259318:R727Q	ENSP00000259318:R727Q	R	+	2	0	PALM2-AKAP2;AKAP2	111940518	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.206000	0.95056	2.941000	0.99782	0.655000	0.94253	CGA		0.552	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065	
PPP1R26	9858	broad.mit.edu	37	9	138377609	138377609	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr9:138377609C>A	ENST00000356818.2	+	4	1802	c.1253C>A	c.(1252-1254)aCc>aAc	p.T418N	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.T418N|PPP1R26_ENST00000605286.1_Missense_Mutation_p.T418N|PPP1R26_ENST00000604351.1_Missense_Mutation_p.T418N|PPP1R26_ENST00000401470.3_Missense_Mutation_p.T418N	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	418					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TTGCCCGAGACCCACAGGAAA	0.622																																						uc022bpi.1																			0											c.(1252-1254)aCc>aAc		Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.							32.0	35.0	34.0					9																	138377609		2203	4300	6503	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138377609C>A	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1253C>A	9.37:g.138377609C>A	ENSP00000349274:p.Thr418Asn					PPP1R26_uc004cfr.1_Missense_Mutation_p.T418N	p.T418N	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN			0	1253	+			418					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.1253C>A	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	C	4.061	0.009100	0.07912	.	.	ENSG00000196422	ENST00000356818	T	0.09630	2.96	5.06	2.05	0.26809	.	0.689881	0.14243	N	0.331936	T	0.09024	0.0223	L	0.43152	1.355	0.09310	N	1	B	0.28783	0.222	B	0.27500	0.08	T	0.24083	-1.0170	10	0.37606	T	0.19	-5.6746	6.5931	0.22658	0.1145:0.5629:0.2453:0.0774	.	418	Q5T8A7	PPR26_HUMAN	N	418	ENSP00000349274:T418N	ENSP00000349274:T418N	T	+	2	0	KIAA0649	137517430	0.000000	0.05858	0.010000	0.14722	0.024000	0.10985	0.162000	0.16501	1.124000	0.41980	0.655000	0.94253	ACC		0.622	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811	
GRPR	2925	broad.mit.edu	37	X	16142187	16142187	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chrX:16142187G>A	ENST00000380289.2	+	1	509	c.111G>A	c.(109-111)ccG>ccA	p.P37P		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	37					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GGTCCCACCCGGGGATCCTCT	0.488											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004cxj.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(109-111)ccG>ccA		Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.							194.0	177.0	183.0					X																	16142187		2203	4300	6503	SO:0001819	synonymous_variant	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16142187G>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.111G>A	X.37:g.16142187G>A			OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	708		p.P37P	NM_005314	NP_005305	P30550	GRPR_HUMAN			0	764	+	Hepatocellular(33;0.183)		37					B2R910	Silent	SNP	ENST00000380289.2	37	c.111G>A	CCDS14174.1																																																																																				0.488	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314	
