#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
MECR	51102	broad.mit.edu	37	1	29557372	29557372	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:29557372T>G	ENST00000263702.6	-	1	72	c.47A>C	c.(46-48)cAg>cCg	p.Q16P	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000373791.3_5'UTR			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	16					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CCCCCGCCACTGCCGGGCGGG	0.692																																						uc001brq.1																			0				ovary(1)	1						c.(46-48)CAG>CCG		trans-2-enoyl-CoA reductase, mitochondrial							8.0	13.0	12.0					1																	29557372		2026	4060	6086	SO:0001583	missense	51102				fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	g.chr1:29557372T>G		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"""nuclear receptor binding factor 1"", ""mitochondrial 2-enoyl thioester reductase"""	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.47A>C	1.37:g.29557372T>G	ENSP00000263702:p.Gln16Pro					MECR_uc001brp.1_5'UTR|MECR_uc001brr.1_5'UTR|MECR_uc001brs.1_RNA|MECR_uc001brt.1_5'UTR|MECR_uc010ofz.1_Missense_Mutation_p.Q16P	p.Q16P	NM_016011	NP_057095	Q9BV79	MECR_HUMAN		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)	1	83	-		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	16					B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	c.47A>C	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	T	9.894	1.205119	0.22205	.	.	ENSG00000116353	ENST00000263702	T	0.03386	3.95	4.91	-0.197	0.13228	.	1.793320	0.03320	N	0.191820	T	0.02455	0.0075	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44205	-0.9343	9	.	.	.	.	2.8573	0.05576	0.4955:0.0:0.1808:0.3238	.	16	Q9BV79	MECR_HUMAN	P	16	ENSP00000263702:Q16P	.	Q	-	2	0	MECR	29429959	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.096000	0.11059	0.073000	0.16731	-0.302000	0.09304	CAG		0.692	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011	
FOXJ3	22887	broad.mit.edu	37	1	42657151	42657151	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:42657151G>A	ENST00000372572.1	-	11	1485	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*	FOXJ3_ENST00000361776.1_Nonsense_Mutation_p.Q358*|FOXJ3_ENST00000545068.1_Nonsense_Mutation_p.Q392*|FOXJ3_ENST00000361346.1_Nonsense_Mutation_p.Q392*|FOXJ3_ENST00000372571.1_5'Flank|FOXJ3_ENST00000372573.1_Nonsense_Mutation_p.Q392*	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	392					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGCGGATGCTGCGGTAAACCA	0.592																																						uc001che.2																			0				ovary(2)	2						c.(1174-1176)CAG>TAG		forkhead box J3							394.0	304.0	334.0					1																	42657151		2203	4300	6503	SO:0001587	stop_gained	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:42657151G>A	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1174C>T	1.37:g.42657151G>A	ENSP00000361653:p.Gln392*					FOXJ3_uc001chf.2_Nonsense_Mutation_p.Q392*|FOXJ3_uc001chg.2_Nonsense_Mutation_p.Q392*|FOXJ3_uc001chh.1_Nonsense_Mutation_p.Q358*	p.Q392*	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN			11	1486	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	392					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Nonsense_Mutation	SNP	ENST00000372572.1	37	c.1174C>T	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	37	6.560804	0.97663	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886	.	.	.	5.16	5.16	0.70880	.	2.231910	0.02110	N	0.054689	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	16.4865	0.84185	0.0:0.0:1.0:0.0	.	.	.	.	X	392;392;392;358;392;358	.	ENSP00000354620:Q392X	Q	-	1	0	FOXJ3	42429738	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.618000	0.83043	2.569000	0.86673	0.555000	0.69702	CAG		0.592	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947	
ELTD1	64123	broad.mit.edu	37	1	79403509	79403509	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:79403509G>T	ENST00000370742.3	-	6	806	c.743C>A	c.(742-744)aCa>aAa	p.T248K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	248					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CGTTGAATTTGTATCAAACTC	0.378																																						uc001diq.3																			0				ovary(1)|skin(1)	2						c.(742-744)ACA>AAA		EGF, latrophilin and seven transmembrane domain							163.0	150.0	154.0					1																	79403509		1828	4082	5910	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79403509G>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.743C>A	1.37:g.79403509G>T	ENSP00000359778:p.Thr248Lys						p.T248K	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	6	899	-			248			Extracellular (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.743C>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	3.395	-0.123534	0.06795	.	.	ENSG00000162618	ENST00000370742	T	0.09630	2.96	5.79	3.69	0.42338	Domain of unknown function DUF3497 (1);	0.471455	0.25807	N	0.028161	T	0.03477	0.0100	L	0.36672	1.1	0.09310	N	1	B	0.31256	0.316	B	0.37833	0.259	T	0.38243	-0.9670	9	.	.	.	.	7.1395	0.25548	0.3627:0.0:0.6373:0.0	.	248	Q9HBW9	ELTD1_HUMAN	K	248	ENSP00000359778:T248K	.	T	-	2	0	ELTD1	79176097	0.774000	0.28592	0.831000	0.32960	0.661000	0.39034	3.027000	0.49697	1.413000	0.46997	0.557000	0.71058	ACA		0.378	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	
LCE1F	353137	broad.mit.edu	37	1	152749095	152749095	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:152749095G>A	ENST00000334371.2	+	1	248	c.248G>A	c.(247-249)cGt>cAt	p.R83H		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	83	Poly-Arg.				keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGACGGCGTAGGTCCCAC	0.706																																						uc010pdv.1																			0					0						c.(247-249)CGT>CAT		late cornified envelope 1F							22.0	26.0	25.0					1																	152749095		2203	4299	6502	SO:0001583	missense	353137				keratinization			g.chr1:152749095G>A		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.248G>A	1.37:g.152749095G>A	ENSP00000334187:p.Arg83His						p.R83H	NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	248	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		83			Poly-Arg.			Missense_Mutation	SNP	ENST00000334371.2	37	c.248G>A	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	G	8.541	0.873176	0.17322	.	.	ENSG00000240386	ENST00000334371	T	0.04406	3.63	4.45	2.56	0.30785	.	0.268702	0.18250	N	0.146987	T	0.00936	0.0031	N	0.10916	0.065	0.22511	N	0.999032	B	0.15141	0.012	B	0.10450	0.005	T	0.47686	-0.9098	10	0.87932	D	0	.	6.9492	0.24536	0.2109:0.0:0.7891:0.0	.	83	Q5T754	LCE1F_HUMAN	H	83	ENSP00000334187:R83H	ENSP00000334187:R83H	R	+	2	0	LCE1F	151015719	0.006000	0.16342	0.990000	0.47175	0.401000	0.30781	-0.073000	0.11468	0.600000	0.29862	0.557000	0.71058	CGT		0.706	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354	
TOMM40L	84134	broad.mit.edu	37	1	161198259	161198259	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:161198259G>A	ENST00000367988.3	+	8	918	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	TOMM40L_ENST00000367987.1_Missense_Mutation_p.A217T|TOMM40L_ENST00000474486.1_3'UTR|NR1I3_ENST00000479324.1_5'Flank|MIR5187_ENST00000583479.1_RNA|TOMM40L_ENST00000545897.1_Missense_Mutation_p.A183T	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	217					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ATCAGGCGGGGCCCATGCAAG	0.488																																						uc001fzd.2																			0				large_intestine(1)	1						c.(649-651)GCC>ACC		translocase of outer mitochondrial membrane 40							75.0	63.0	67.0					1																	161198259		2203	4300	6503	SO:0001583	missense	84134				protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity	g.chr1:161198259G>A		CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.649G>A	1.37:g.161198259G>A	ENSP00000356967:p.Ala217Thr					TOMM40L_uc010pkl.1_Missense_Mutation_p.A183T|TOMM40L_uc009wue.2_Missense_Mutation_p.A99T|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_Missense_Mutation_p.A217T	p.A217T	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		8	878	+	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		217					B7Z4U0|D3DVG9	Missense_Mutation	SNP	ENST00000367988.3	37	c.649G>A	CCDS1227.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272547	0.40194	.	.	ENSG00000158882	ENST00000367988;ENST00000545897;ENST00000542686;ENST00000367987	T;T;T	0.48522	0.81;0.81;0.81	5.64	3.78	0.43462	.	0.103470	0.64402	D	0.000003	T	0.41650	0.1168	M	0.64404	1.975	0.38910	D	0.957503	P;B;P	0.47191	0.891;0.302;0.891	P;B;P	0.52424	0.698;0.166;0.698	T	0.42378	-0.9455	9	0.44086	T	0.13	-16.2958	10.6568	0.45680	0.1546:0.0:0.8454:0.0	.	183;99;217	B7Z4U0;Q9H9G4;Q969M1	.;.;TM40L_HUMAN	T	217;183;119;217	ENSP00000356967:A217T;ENSP00000443233:A183T;ENSP00000356966:A217T	ENSP00000356966:A217T	A	+	1	0	TOMM40L	159464883	1.000000	0.71417	1.000000	0.80357	0.000000	0.00434	6.595000	0.74109	0.858000	0.35431	-0.781000	0.03364	GCC		0.488	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	NM_032174	
FMOD	2331	broad.mit.edu	37	1	203316988	203316988	+	Silent	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:203316988G>A	ENST00000354955.4	-	2	874	c.411C>T	c.(409-411)caC>caT	p.H137H	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	137					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCTGGTTGCCGTGGAGAGCAA	0.557																																						uc001gzr.2																			0				ovary(2)|breast(1)	3						c.(409-411)CAC>CAT		fibromodulin precursor							95.0	84.0	88.0					1																	203316988		2203	4300	6503	SO:0001819	synonymous_variant	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316988G>A	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.411C>T	1.37:g.203316988G>A						FMOD_uc010pqi.1_RNA	p.H137H	NM_002023	NP_002014	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	547	-			137			LRR 2.		Q15331|Q8IV47	Silent	SNP	ENST00000354955.4	37	c.411C>T	CCDS30976.1																																																																																				0.557	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023	
DIEXF	27042	broad.mit.edu	37	1	210008454	210008454	+	Silent	SNP	A	A	G			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:210008454A>G	ENST00000491415.2	+	5	654	c.597A>G	c.(595-597)aaA>aaG	p.K199K		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	199					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AAGAACTGAAAGAAAAAGCAA	0.403																																						uc001hhr.1																			0					0						c.(595-597)AAA>AAG		digestive-organ expansion factor homolog							121.0	114.0	116.0					1																	210008454		2203	4300	6503	SO:0001819	synonymous_variant	27042				multicellular organismal development	nucleus		g.chr1:210008454A>G	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.597A>G	1.37:g.210008454A>G						C1orf107_uc009xcu.1_5'UTR	p.K199K	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0367)	5	673	+			199					O75992|Q4VY00|Q63HL9	Silent	SNP	ENST00000491415.2	37	c.597A>G	CCDS1493.1																																																																																				0.403	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388	
CHRM3	1131	broad.mit.edu	37	1	240071276	240071276	+	Silent	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:240071276G>A	ENST00000255380.4	+	5	1304	c.525G>A	c.(523-525)acG>acA	p.T175T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	175					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GGCCGCTCACGTACCGAGCCA	0.507																																						uc001hyp.2																			0				ovary(4)|skin(1)	5						c.(523-525)ACG>ACA		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						147.0	148.0	148.0					1																	240071276		2203	4300	6503	SO:0001819	synonymous_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071276G>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.525G>A	1.37:g.240071276G>A							p.T175T	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1304	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	175			Cytoplasmic (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.525G>A	CCDS1616.1																																																																																				0.507	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740	
OR2T3	343173	broad.mit.edu	37	1	248637245	248637245	+	Silent	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:248637245C>T	ENST00000359594.2	+	1	619	c.594C>T	c.(592-594)tcC>tcT	p.S198S		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			CTGACGTCTCCCTCTATAAGA	0.522																																						uc001iel.1																			0				skin(1)	1						c.(592-594)TCC>TCT		olfactory receptor, family 2, subfamily T,							179.0	145.0	156.0					1																	248637245		2135	4243	6378	SO:0001819	synonymous_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637245C>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.594C>T	1.37:g.248637245C>T							p.S198S	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	594	+	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)		198			Extracellular (Potential).		B2RNJ1	Silent	SNP	ENST00000359594.2	37	c.594C>T	CCDS31117.1																																																																																				0.522	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495	
KLF6	1316	broad.mit.edu	37	10	3827115	3827115	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr10:3827115T>C	ENST00000497571.1	-	1	352	c.92A>G	c.(91-93)tAc>tGc	p.Y31C	KLF6_ENST00000173785.4_5'Flank|KLF6_ENST00000469435.1_Missense_Mutation_p.Y31C|KLF6_ENST00000542957.1_Missense_Mutation_p.Y31C	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	31					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		CTGTTGCCAGTACTCCTCCAG	0.687																																						uc001iha.2																			0				central_nervous_system(3)|lung(1)	4						c.(91-93)TAC>TGC		Kruppel-like factor 6 isoform A							32.0	35.0	34.0					10																	3827115		2203	4300	6503	SO:0001583	missense	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3827115T>C	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.92A>G	10.37:g.3827115T>C	ENSP00000419923:p.Tyr31Cys					KLF6_uc010qaj.1_Missense_Mutation_p.Y31C|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Missense_Mutation_p.Y31C|KLF6_uc001ihb.2_Missense_Mutation_p.Y31C	p.Y31C	NM_001300	NP_001291	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	1	359	-			31					B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	ENST00000497571.1	37	c.92A>G	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916078	0.73098	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435;ENST00000322510	T;T;T	0.53206	3.39;0.63;0.86	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	T	0.68274	0.2983	M	0.76838	2.35	0.54753	D	0.999983	D;D;D;D	0.89917	0.975;0.99;1.0;0.996	P;P;D;P	0.76575	0.647;0.831;0.988;0.863	T	0.70204	-0.4936	10	0.44086	T	0.13	.	14.3399	0.66619	0.0:0.0:0.0:1.0	.	31;31;31;31	D3GC14;F5H3M5;Q99612-2;Q99612	.;.;.;KLF6_HUMAN	C	31	ENSP00000419923:Y31C;ENSP00000445301:Y31C;ENSP00000419079:Y31C	ENSP00000324925:Y31C	Y	-	2	0	KLF6	3817115	1.000000	0.71417	0.990000	0.47175	0.880000	0.50808	5.969000	0.70422	1.988000	0.58038	0.260000	0.18958	TAC		0.687	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1		
FAM21C	253725	broad.mit.edu	37	10	46265058	46265058	+	Silent	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr10:46265058C>T	ENST00000336378.4	+	20	2143	c.2025C>T	c.(2023-2025)gcC>gcT	p.A675A	FAM21C_ENST00000537517.1_Silent_p.A653A|FAM21C_ENST00000374362.2_Silent_p.A677A|FAM21C_ENST00000359860.4_Silent_p.A619A|FAM21C_ENST00000540872.1_Silent_p.A677A	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	675					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTGCCATTGCCAAGGACAGGT	0.478																																						uc001jcu.2																			0				ovary(1)	1						c.(2029-2031)GCC>GCT		hypothetical protein LOC253725							267.0	250.0	255.0					10																	46265058		1912	4118	6030	SO:0001819	synonymous_variant	253725							g.chr10:46265058C>T		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.2025C>T	10.37:g.46265058C>T						FAM21C_uc001jcs.1_Silent_p.A620A|FAM21C_uc001jct.2_Silent_p.A675A|FAM21C_uc010qfi.1_Silent_p.A653A|FAM21C_uc010qfj.1_5'UTR|FAM21C_uc010qfk.1_5'UTR	p.A677A	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN			20	2130	+			677					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Silent	SNP	ENST00000336378.4	37	c.2031C>T																																																																																					0.478	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
PTEN	5728	broad.mit.edu	37	10	89720794	89720794	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr10:89720794T>A	ENST00000371953.3	+	8	2302	c.945T>A	c.(943-945)taT>taA	p.Y315*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	315	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.Y315fs*9(1)|p.G165_*404del(1)|p.L316fs*2(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACAAGGAATATCTAGTACTTA	0.328		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		52	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(2)|Insertion - Frameshift(2)|Unknown(2)	p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.Y315fs*9(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*2(1)|p.W274_F341del(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM033670|CM981676	PTEN	M		c.(943-945)TAT>TAA		phosphatase and tensin homolog							100.0	99.0	99.0					10																	89720794		2203	4299	6502	SO:0001587	stop_gained	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720794T>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.945T>A	10.37:g.89720794T>A	ENSP00000361021:p.Tyr315*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.Y315*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1976	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	315			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.945T>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	48	14.456712	0.99796	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.37	4.12	0.48240	.	0.058407	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.544	9.3204	0.37959	0.0:0.1053:0.0:0.8947	.	.	.	.	X	315	.	.	Y	+	3	2	PTEN	89710774	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.482000	0.35486	0.745000	0.32763	0.482000	0.46254	TAT		0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
TPP1	1200	broad.mit.edu	37	11	6637552	6637552	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:6637552C>T	ENST00000299427.6	-	8	1129	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	TPP1_ENST00000534644.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_Missense_Mutation_p.A114T	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0					embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	TCACCTGAGGCGAAGAGCAGG	0.567																																						uc001mel.1																			0					0						c.(1069-1071)GCC>ACC		tripeptidyl-peptidase I preproprotein							101.0	104.0	103.0					11																	6637552		2201	4296	6497	SO:0001583	missense	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6637552C>T	AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"""TPP I"""	607998	"""ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)"", ""spinocerebellar ataxia, autosomal recessive 7"""	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.1069G>A	11.37:g.6637552C>T	ENSP00000299427:p.Ala357Thr					TPP1_uc001mek.1_Missense_Mutation_p.A114T	p.A357T	NM_000391	NP_000382	O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	8	1130	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	357					Q71V64	Missense_Mutation	SNP	ENST00000299427.6	37	c.1069G>A	CCDS7770.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090501	0.94149	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	D;D	0.99701	-6.45;-2.88	5.4	5.4	0.78164	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.115133	0.64402	D	0.000015	D	0.99809	0.9917	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97014	0.9738	10	0.72032	D	0.01	-22.5628	16.3198	0.82945	0.0:1.0:0.0:0.0	.	357	O14773	TPP1_HUMAN	T	357;114	ENSP00000299427:A357T;ENSP00000437066:A114T	ENSP00000299427:A357T	A	-	1	0	TPP1	6594128	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.381000	0.79718	2.542000	0.85734	0.555000	0.69702	GCC		0.567	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2		
CTR9	9646	broad.mit.edu	37	11	10774300	10774300	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:10774300A>G	ENST00000361367.2	+	2	553	c.127A>G	c.(127-129)Ata>Gta	p.I43V		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	43					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ACAACTGCACATATGGATTGC	0.363																																						uc001mja.2																			0				ovary(2)	2						c.(127-129)ATA>GTA		SH2 domain binding protein 1							239.0	227.0	231.0					11																	10774300		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10774300A>G	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.127A>G	11.37:g.10774300A>G	ENSP00000355013:p.Ile43Val						p.I43V	NM_014633	NP_055448	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	2	276	+			43			TPR 1.		D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.127A>G	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.797594	0.31777	.	.	ENSG00000198730	ENST00000361367;ENST00000524523	T	0.76316	-1.01	5.82	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.62183	0.2407	N	0.21097	0.63	0.51767	D	0.999931	B	0.19445	0.036	B	0.15052	0.012	T	0.57021	-0.7882	10	0.15066	T	0.55	-18.5584	11.963	0.53019	0.856:0.144:0.0:0.0	.	43	Q6PD62	CTR9_HUMAN	V	43;30	ENSP00000355013:I43V	ENSP00000355013:I43V	I	+	1	0	CTR9	10730876	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.953000	0.93041	2.225000	0.72522	0.460000	0.39030	ATA		0.363	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633	
LUZP2	338645	broad.mit.edu	37	11	24936063	24936063	+	Silent	SNP	G	G	C			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:24936063G>C	ENST00000336930.6	+	7	567	c.501G>C	c.(499-501)ggG>ggC	p.G167G	LUZP2_ENST00000533227.1_Silent_p.G81G			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	167	Leucine-zipper.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTCGTTATGGGAAGAAGGATT	0.318																																						uc001mqs.2																			0				ovary(1)|skin(1)	2						c.(499-501)GGG>GGC		leucine zipper protein 2 precursor							96.0	99.0	98.0					11																	24936063		2203	4300	6503	SO:0001819	synonymous_variant	338645					extracellular region		g.chr11:24936063G>C	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.501G>C	11.37:g.24936063G>C						LUZP2_uc009yif.2_Silent_p.G81G|LUZP2_uc009yig.2_Intron	p.G167G	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN			7	735	+			167			Potential.|Leucine-zipper.		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Silent	SNP	ENST00000336930.6	37	c.501G>C	CCDS31446.1																																																																																				0.318	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	
LRP4	4038	broad.mit.edu	37	11	46880714	46880714	+	Silent	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:46880714G>A	ENST00000378623.1	-	38	5780	c.5538C>T	c.(5536-5538)gaC>gaT	p.D1846D	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1846					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGGACACCGTGTCTGTCTTCA	0.582																																						uc001ndn.3																			0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(5536-5538)GAC>GAT		low density lipoprotein receptor-related protein							93.0	80.0	85.0					11																	46880714		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46880714G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5538C>T	11.37:g.46880714G>A						uc001ndl.2_Intron|LRP4_uc001ndm.3_Silent_p.D88D	p.D1846D	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	38	5684	-			1846			Cytoplasmic (Potential).		B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.5538C>T	CCDS31478.1																																																																																				0.582	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
OR5F1	338674	broad.mit.edu	37	11	55761167	55761167	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:55761167G>A	ENST00000278409.1	-	1	934	c.935C>T	c.(934-936)tCc>tTc	p.S312F		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	312					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TCACAGAAAGGAAGAGGTCCT	0.338																																						uc010riv.1																			0				ovary(1)|pancreas(1)	2						c.(934-936)TCC>TTC		olfactory receptor, family 5, subfamily F,							44.0	46.0	45.0					11																	55761167		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761167G>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.935C>T	11.37:g.55761167G>A	ENSP00000278409:p.Ser312Phe						p.S312F	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	935	-	Esophageal squamous(21;0.00448)		312			Cytoplasmic (Potential).		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.935C>T	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	5.567	0.289462	0.10567	.	.	ENSG00000149133	ENST00000278409	T	0.00005	9.78	2.46	0.29	0.15728	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.30406	0.278	B	0.28305	0.088	T	0.00003	-1.2607	9	0.23302	T	0.38	.	2.9896	0.05979	0.1629:0.0:0.5734:0.2637	.	312	O95221	OR5F1_HUMAN	F	312	ENSP00000278409:S312F	ENSP00000278409:S312F	S	-	2	0	OR5F1	55517743	.	.	0.092000	0.20876	0.021000	0.10359	.	.	-0.034000	0.13713	0.289000	0.19496	TCC		0.338	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697	
OR9G1	390174	broad.mit.edu	37	11	56468297	56468297	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:56468297C>A	ENST00000312153.1	+	1	434	c.434C>A	c.(433-435)gCa>gAa	p.A145E		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TTGCTGGTAGCAGTCTCATAT	0.463																																						uc010rjn.1																			0					0						c.(433-435)GCA>GAA		olfactory receptor, family 9, subfamily G,							206.0	191.0	196.0					11																	56468297		2201	4296	6497	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468297C>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.434C>A	11.37:g.56468297C>A	ENSP00000309012:p.Ala145Glu						p.A145E	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	434	+			145			Helical; Name=4; (Potential).		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.434C>A	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	8.398	0.841373	0.16891	.	.	ENSG00000174914	ENST00000312153	T	0.42513	0.97	4.3	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	2.253820	0.01708	N	0.027543	T	0.65333	0.2681	M	0.92923	3.36	0.09310	N	1	B	0.34399	0.452	P	0.45794	0.493	T	0.48080	-0.9066	10	0.62326	D	0.03	2.2401	7.7673	0.28986	0.0:0.6573:0.0:0.3427	.	145	Q8NH87	OR9G1_HUMAN	E	145	ENSP00000309012:A145E	ENSP00000309012:A145E	A	+	2	0	OR9G1	56224873	0.000000	0.05858	0.040000	0.18447	0.014000	0.08584	-1.031000	0.03578	0.176000	0.19873	0.573000	0.79308	GCA		0.463	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213	
DPF2	5977	broad.mit.edu	37	11	65107936	65107936	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:65107936G>A	ENST00000528416.1	+	2	246	c.113G>A	c.(112-114)cGc>cAc	p.R38H	DPF2_ENST00000532264.1_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.R38H|DPF2_ENST00000415073.2_Missense_Mutation_p.R38H	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	38					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CGCAGCGTGCGCCTGCCTTTC	0.552																																						uc001odm.2																			0				ovary(1)	1						c.(112-114)CGC>CAC		D4, zinc and double PHD fingers family 2							115.0	112.0	113.0					11																	65107936		2201	4297	6498	SO:0001583	missense	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65107936G>A	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.113G>A	11.37:g.65107936G>A	ENSP00000436901:p.Arg38His					DPF2_uc001odn.2_Missense_Mutation_p.R38H|DPF2_uc010roe.1_Missense_Mutation_p.R38H	p.R38H	NM_006268	NP_006259	Q92785	REQU_HUMAN			2	125	+			38					A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	c.113G>A	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936776	0.92458	.	.	ENSG00000133884	ENST00000528416;ENST00000415073;ENST00000252268	D;D;D	0.95482	-3.66;-3.68;-3.72	5.52	5.52	0.82312	.	0.000000	0.38217	N	0.001768	D	0.97695	0.9244	M	0.83774	2.66	0.48975	D	0.999734	D;D;D	0.89917	0.998;1.0;0.995	P;D;P	0.71414	0.885;0.973;0.828	D	0.98335	1.0535	10	0.87932	D	0	-19.5775	16.9414	0.86219	0.0:0.0:1.0:0.0	.	38;38;38	B4DT58;E9PN04;Q92785	.;.;REQU_HUMAN	H	38	ENSP00000436901:R38H;ENSP00000399714:R38H;ENSP00000252268:R38H	ENSP00000252268:R38H	R	+	2	0	DPF2	64864512	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.956000	0.87863	2.588000	0.87417	0.655000	0.94253	CGC		0.552	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268	
PGR	5241	broad.mit.edu	37	11	100999454	100999454	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:100999454G>C	ENST00000325455.5	-	1	1801	c.348C>G	c.(346-348)gaC>gaG	p.D116E	PGR_ENST00000263463.5_Missense_Mutation_p.D116E|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	116	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CCAACAGAGTGTCCAAGACAC	0.622																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2																			0				lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4						c.(346-348)GAC>GAG		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						32.0	29.0	30.0					11																	100999454		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100999454G>C	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.348C>G	11.37:g.100999454G>C	ENSP00000325120:p.Asp116Glu					PGR_uc001pgi.2_Missense_Mutation_p.D116E|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	p.D116E	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	1091	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	116			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.348C>G	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579485	0.46006	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.10192	2.9;2.9	4.2	2.33	0.28932	.	0.330408	0.21785	N	0.069143	T	0.14399	0.0348	M	0.80183	2.485	0.27991	N	0.935659	B;B	0.16603	0.018;0.018	B;B	0.20767	0.031;0.031	T	0.14811	-1.0459	10	0.66056	D	0.02	.	6.1321	0.20211	0.0978:0.0:0.7166:0.1855	.	116;116	Q8TDS3;P06401	.;PRGR_HUMAN	E	116	ENSP00000325120:D116E;ENSP00000263463:D116E	ENSP00000263463:D116E	D	-	3	2	PGR	100504664	0.999000	0.42202	0.256000	0.24389	0.891000	0.51852	1.787000	0.38704	0.434000	0.26340	-0.218000	0.12543	GAC		0.622	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1		
DDI1	414301	broad.mit.edu	37	11	103908056	103908056	+	Missense_Mutation	SNP	A	A	C	rs374052014		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:103908056A>C	ENST00000302259.3	+	1	749	c.506A>C	c.(505-507)gAa>gCa	p.E169A	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	169							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCCTTGGCGGAAGCCCTGCTC	0.602																																						uc001phr.2																			0				large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(505-507)GAA>GCA		DDI1, DNA-damage inducible 1, homolog 1							63.0	63.0	63.0					11																	103908056		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908056A>C		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.506A>C	11.37:g.103908056A>C	ENSP00000302805:p.Glu169Ala					PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.E169A	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	749	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	169					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.506A>C	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.716380	0.48622	.	.	ENSG00000170967	ENST00000302259	T	0.25085	1.82	5.02	5.02	0.67125	.	0.049889	0.85682	D	0.000000	T	0.34250	0.0891	L	0.41824	1.3	0.54753	D	0.999983	P	0.51351	0.944	P	0.57548	0.823	T	0.02081	-1.1217	10	0.23891	T	0.37	-34.5941	13.0219	0.58794	1.0:0.0:0.0:0.0	.	169	Q8WTU0	DDI1_HUMAN	A	169	ENSP00000302805:E169A	ENSP00000302805:E169A	E	+	2	0	DDI1	103413266	1.000000	0.71417	0.214000	0.23707	0.049000	0.14656	8.529000	0.90602	2.244000	0.73946	0.533000	0.62120	GAA		0.602	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711	
SPATA19	219938	broad.mit.edu	37	11	133711992	133711992	+	Missense_Mutation	SNP	C	C	T	rs140608295		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:133711992C>T	ENST00000299140.3	-	6	500	c.446G>A	c.(445-447)cGt>cAt	p.R149H	SPATA19_ENST00000532889.1_Missense_Mutation_p.R149H	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	149					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		ATCTGTAAGACGGGATATGCT	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21919	0.0		0.0	False		,,,				2504	0.0					uc001qgv.1																			0					0						c.(445-447)CGT>CAT		spermatogenesis associated 19 precursor		C	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	118.0	108.0	112.0		446	3.2	0.0	11	dbSNP_134	112	0,8594		0,0,4297	no	missense	SPATA19	NM_174927.1	29	0,2,6496	TT,TC,CC		0.0,0.0454,0.0154	benign	149/168	133711992	2,12994	2201	4297	6498	SO:0001583	missense	219938				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		g.chr11:133711992C>T	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.446G>A	11.37:g.133711992C>T	ENSP00000299140:p.Arg149His						p.R149H	NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	6	497	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	149					Q8N7A9	Missense_Mutation	SNP	ENST00000299140.3	37	c.446G>A	CCDS8493.1	.	.	.	.	.	.	.	.	.	.	C	6.723	0.502095	0.12822	4.54E-4	0.0	ENSG00000166118	ENST00000299140;ENST00000532889	T;T	0.42900	0.96;0.96	5.45	3.17	0.36434	.	0.561035	0.16232	N	0.223559	T	0.13628	0.0330	N	0.01576	-0.805	0.45150	D	0.998166	B	0.06786	0.001	B	0.01281	0.0	T	0.08848	-1.0702	10	0.08179	T	0.78	-16.4698	6.6226	0.22812	0.0:0.1952:0.0:0.8048	.	149	Q7Z5L4	SPT19_HUMAN	H	149	ENSP00000299140:R149H;ENSP00000435248:R149H	ENSP00000299140:R149H	R	-	2	0	SPATA19	133217202	0.005000	0.15991	0.002000	0.10522	0.001000	0.01503	0.213000	0.17521	0.387000	0.25024	-0.367000	0.07326	CGT		0.602	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927	
CLEC1A	51267	broad.mit.edu	37	12	10241786	10241786	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:10241786C>T	ENST00000315330.4	-	2	213	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	CLEC1A_ENST00000457018.2_Intron|CLEC1A_ENST00000420265.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	51					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AGGGTCAGGGCCACTGGTCGC	0.547																																						uc001qxb.2																			0				ovary(1)|central_nervous_system(1)	2						c.(151-153)GCC>ACC		C-type lectin-like receptor-1							56.0	51.0	52.0					12																	10241786		2203	4300	6503	SO:0001583	missense	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10241786C>T	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.151G>A	12.37:g.10241786C>T	ENSP00000326407:p.Ala51Thr					CLEC1A_uc009zhf.2_5'UTR|CLEC1A_uc001qxc.2_5'UTR|CLEC1A_uc001qxd.2_Intron|CLEC1A_uc010sgx.1_Intron	p.A51T	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN			2	235	-			51			Cytoplasmic (Potential).		Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	c.151G>A	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125774	0.37533	.	.	ENSG00000150048	ENST00000315330;ENST00000414501	T;T	0.72505	4.84;-0.66	5.35	4.47	0.54385	.	0.251366	0.28252	N	0.016023	T	0.67832	0.2935	M	0.75884	2.315	0.80722	D	1	B	0.27882	0.192	B	0.23716	0.048	T	0.66464	-0.5917	10	0.45353	T	0.12	.	10.3051	0.43676	0.0:0.9082:0.0:0.0918	.	51	Q8NC01	CLC1A_HUMAN	T	51	ENSP00000326407:A51T;ENSP00000396272:A51T	ENSP00000326407:A51T	A	-	1	0	CLEC1A	10133053	0.972000	0.33761	0.932000	0.37286	0.252000	0.25951	2.328000	0.43867	1.250000	0.43966	0.655000	0.94253	GCC		0.547	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511	
SLCO1B7	338821	broad.mit.edu	37	12	21168708	21168708	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:21168708G>A	ENST00000421593.2	+	1	79	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.E27K(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGGAAGCTTCGAAATAGGTAG	0.308																																						uc010sin.1																			1	Substitution - Missense(1)		skin(1)		0						c.(79-81)GAA>AAA		liver-specific organic anion transporter 3TM12							75.0	75.0	75.0					12																	21168708		2144	4285	6429	SO:0001583	missense	338821					membrane	transporter activity	g.chr12:21168708G>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.79G>A	12.37:g.21168708G>A	ENSP00000394168:p.Glu27Lys					SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron	p.E27K	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			1	79	+			27					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.79G>A	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	14.97	2.693658	0.48202	.	.	ENSG00000205754	ENST00000421593	T	0.52295	0.67	2.68	2.68	0.31781	.	0.000000	0.85682	D	0.000000	T	0.73799	0.3633	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.81623	-0.0849	10	0.87932	D	0	.	12.7175	0.57123	0.0:0.0:1.0:0.0	.	27	G3V0H7	.	K	27	ENSP00000394168:E27K	ENSP00000394168:E27K	E	+	1	0	SLCO1B7	21059975	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	8.346000	0.90060	1.476000	0.48215	0.407000	0.27541	GAA		0.308	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562	
ABCC9	10060	broad.mit.edu	37	12	22005399	22005399	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:22005399T>C	ENST00000261201.4	-	21	2545	c.2546A>G	c.(2545-2547)cAt>cGt	p.H849R	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.H813R|ABCC9_ENST00000261200.4_Missense_Mutation_p.H849R	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	849	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CTGCATTAAATGATCACTCAA	0.403																																						uc001rfi.1																			0				ovary(4)|skin(2)	6						c.(2545-2547)CAT>CGT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						112.0	104.0	107.0					12																	22005399		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22005399T>C	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2546A>G	12.37:g.22005399T>C	ENSP00000261201:p.His849Arg					ABCC9_uc001rfh.2_Missense_Mutation_p.H849R|ABCC9_uc001rfj.1_Missense_Mutation_p.H813R	p.H849R	NM_005691	NP_005682	O60706	ABCC9_HUMAN			21	2566	-			849			Cytoplasmic (Potential).|ABC transporter 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.2546A>G	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.093651	0.76870	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51	4.58	4.58	0.56647	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.058514	0.64402	N	0.000003	T	0.80417	0.4619	L	0.33710	1.025	0.80722	D	1	D;D	0.56521	0.974;0.976	P;P	0.55161	0.757;0.77	T	0.82924	-0.0216	10	0.87932	D	0	-14.0133	12.9755	0.58534	0.0:0.0:0.0:1.0	.	849;849	O60706;O60706-2	ABCC9_HUMAN;.	R	849;476;849;813	ENSP00000261200:H849R;ENSP00000440521:H476R;ENSP00000261201:H849R;ENSP00000261202:H813R	ENSP00000261200:H849R	H	-	2	0	ABCC9	21896666	1.000000	0.71417	0.935000	0.37517	0.812000	0.45895	7.532000	0.81985	2.039000	0.60335	0.528000	0.53228	CAT		0.403	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
ARNTL2	56938	broad.mit.edu	37	12	27521311	27521311	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:27521311C>T	ENST00000266503.5	+	2	166	c.148C>T	c.(148-150)Cga>Tga	p.R50*	ARNTL2_ENST00000539558.1_3'UTR|ARNTL2_ENST00000546179.1_Nonsense_Mutation_p.R61*|ARNTL2_ENST00000311001.5_Nonsense_Mutation_p.R50*|ARNTL2_ENST00000395901.2_Nonsense_Mutation_p.R61*|ARNTL2_ENST00000544915.1_Nonsense_Mutation_p.R50*|ARNTL2_ENST00000542388.1_Nonsense_Mutation_p.R13*|ARNTL2_ENST00000261178.5_Nonsense_Mutation_p.R50*			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	50	Interaction with PER2. {ECO:0000250|UniProtKB:Q2VPD4}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R50*(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					AGAGTTTCCACGAAAACGCAA	0.483																																						uc001rht.1																			1	Substitution - Nonsense(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(148-150)CGA>TGA		aryl hydrocarbon receptor nuclear							138.0	114.0	122.0					12																	27521311		2203	4300	6503	SO:0001587	stop_gained	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27521311C>T	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.148C>T	12.37:g.27521311C>T	ENSP00000266503:p.Arg50*					ARNTL2_uc001rhw.2_Nonsense_Mutation_p.R61*|ARNTL2_uc010sjp.1_Nonsense_Mutation_p.R61*|ARNTL2_uc001rhu.1_Nonsense_Mutation_p.R50*|ARNTL2_uc009zji.1_Nonsense_Mutation_p.R50*|ARNTL2_uc001rhv.1_Nonsense_Mutation_p.R50*	p.R50*	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN			2	166	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		50					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Nonsense_Mutation	SNP	ENST00000266503.5	37	c.148C>T	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562626	0.86335	.	.	ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388	.	.	.	3.39	2.25	0.28309	.	0.748438	0.12247	N	0.485988	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0312	0.30465	0.7789:0.2211:0.0:0.0	.	.	.	.	X	50;61;61;50;50;50;13	.	ENSP00000261178:R50X	R	+	1	2	ARNTL2	27412578	0.995000	0.38212	0.984000	0.44739	0.664000	0.39144	0.628000	0.24522	0.691000	0.31592	-0.500000	0.04577	CGA		0.483	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183	
ASB8	140461	broad.mit.edu	37	12	48543629	48543629	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:48543629G>T	ENST00000317697.3	-	4	556	c.387C>A	c.(385-387)aaC>aaA	p.N129K	ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.N129K|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000536071.1_3'UTR|ASB8_ENST00000535055.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	129					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						ACTCAGCATTGTTCTTAAAGG	0.527																																						uc001rrh.2																			0				kidney(1)	1						c.(385-387)AAC>AAA		ankyrin repeat and SOCS box-containing 8							76.0	65.0	69.0					12																	48543629		2203	4300	6503	SO:0001583	missense	140461				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48543629G>T	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.387C>A	12.37:g.48543629G>T	ENSP00000320893:p.Asn129Lys					ASB8_uc010slr.1_Missense_Mutation_p.N125K	p.N129K	NM_024095	NP_077000	Q9H765	ASB8_HUMAN			4	556	-			129			ANK 3.		A8K1P2|Q547Q2	Missense_Mutation	SNP	ENST00000317697.3	37	c.387C>A	CCDS8761.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557756	0.45590	.	.	ENSG00000177981	ENST00000317697;ENST00000536549	T;T	0.65364	-0.15;-0.15	4.92	4.01	0.46588	Ankyrin repeat-containing domain (4);	0.093074	0.64402	D	0.000001	T	0.54902	0.1887	L	0.41079	1.255	0.80722	D	1	P	0.36010	0.532	B	0.37346	0.247	T	0.62798	-0.6778	10	0.72032	D	0.01	-18.7469	13.9356	0.64023	0.0791:0.0:0.9209:0.0	.	129	Q9H765	ASB8_HUMAN	K	129	ENSP00000320893:N129K;ENSP00000445622:N129K	ENSP00000320893:N129K	N	-	3	2	ASB8	46829896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.813000	0.48002	2.462000	0.83206	0.462000	0.41574	AAC		0.527	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1		
SMARCC2	6601	broad.mit.edu	37	12	56563342	56563342	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:56563342C>T	ENST00000267064.4	-	24	2679	c.2593G>A	c.(2593-2595)Gcc>Acc	p.A865T	SMARCC2_ENST00000347471.4_Missense_Mutation_p.A896T|SMARCC2_ENST00000550164.1_Missense_Mutation_p.A896T|SMARCC2_ENST00000394023.3_Missense_Mutation_p.A896T|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	865	Poly-Ala.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			gcggccagggcggcggcagca	0.572																																						uc001skb.2																			0				lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(2593-2595)GCC>ACC		SWI/SNF-related matrix-associated							77.0	69.0	71.0					12																	56563342		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56563342C>T	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2593G>A	12.37:g.56563342C>T	ENSP00000267064:p.Ala865Thr					SMARCC2_uc001skd.2_Missense_Mutation_p.A896T|SMARCC2_uc001ska.2_Missense_Mutation_p.A896T|SMARCC2_uc001skc.2_Missense_Mutation_p.A895T|SMARCC2_uc010sqf.1_Missense_Mutation_p.A785T	p.A865T	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		24	2699	-			865			Poly-Ala.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.2593G>A	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988704	0.74589	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.60920	1.24;0.15;0.15;0.18	4.4	3.51	0.40186	.	0.250090	0.30437	N	0.009638	T	0.67154	0.2863	L	0.55743	1.74	0.40071	D	0.976015	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.79784	0.984;0.993;0.984;0.984;0.993	T	0.67956	-0.5536	10	0.54805	T	0.06	-2.2907	8.4467	0.32847	0.0:0.8936:0.0:0.1064	.	785;896;900;865;896	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	T	896;896;896;865	ENSP00000377591:A896T;ENSP00000449396:A896T;ENSP00000302919:A896T;ENSP00000267064:A865T	ENSP00000267064:A865T	A	-	1	0	SMARCC2	54849609	0.997000	0.39634	0.917000	0.36280	0.002000	0.02628	4.554000	0.60760	1.220000	0.43490	-0.258000	0.10820	GCC		0.572	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1		
FGD6	55785	broad.mit.edu	37	12	95603382	95603382	+	Missense_Mutation	SNP	G	G	A	rs149076340	byFrequency	TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:95603382G>A	ENST00000343958.4	-	2	1901	c.1678C>T	c.(1678-1680)Cgg>Tgg	p.R560W	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Missense_Mutation_p.R560W|FGD6_ENST00000546711.1_Missense_Mutation_p.R560W	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	560					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCTGAAGCCCGTTTAGGCATA	0.423													G|||	3	0.000599042	0.0008	0.0	5008	,	,		19397	0.002		0.0	False		,,,				2504	0.0					uc001tdp.3																			0				ovary(2)|breast(1)	3						c.(1678-1680)CGG>TGG		FYVE, RhoGEF and PH domain containing 6		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	88.0	94.0	92.0		1678	5.1	0.4	12	dbSNP_134	92	0,8600		0,0,4300	yes	missense	FGD6	NM_018351.3	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	560/1431	95603382	2,13004	2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95603382G>A	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1678C>T	12.37:g.95603382G>A	ENSP00000344446:p.Arg560Trp					FGD6_uc009zsx.2_Intron	p.R560W	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			2	1902	-			560					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.1678C>T	CCDS31878.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.94	3.260632	0.59431	4.54E-4	0.0	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.70631	-0.4;-0.5;-0.44	6.04	5.14	0.70334	.	0.861329	0.09697	N	0.767537	T	0.74405	0.3712	L	0.43152	1.355	0.29047	N	0.884715	D	0.76494	0.999	P	0.50490	0.642	T	0.69465	-0.5138	10	0.66056	D	0.02	-0.1208	16.7057	0.85371	0.0:0.0:0.8694:0.1306	.	560	Q6ZV73	FGD6_HUMAN	W	560	ENSP00000344446:R560W;ENSP00000450342:R560W;ENSP00000449005:R560W	ENSP00000344446:R560W	R	-	1	2	FGD6	94127513	0.995000	0.38212	0.405000	0.26409	0.740000	0.42216	2.380000	0.44327	1.536000	0.49237	0.561000	0.74099	CGG		0.423	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351	
CDK17	5128	broad.mit.edu	37	12	96688901	96688901	+	Splice_Site	SNP	C	C	G			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:96688901C>G	ENST00000261211.3	-	10	1477		c.e10-1		CDK17_ENST00000542666.1_Splice_Site|CDK17_ENST00000543119.2_Splice_Site|CDK17_ENST00000553042.1_Splice_Site	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17						protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						ACAGAAACAGCTACAGAAACA	0.358																																						uc001tep.1																			0				ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						c.e10-1		PCTAIRE protein kinase 2							84.0	80.0	81.0					12																	96688901		2203	4300	6503	SO:0001630	splice_region_variant	5128						ATP binding|cyclin-dependent protein kinase activity	g.chr12:96688901C>G		CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.874-1G>C	12.37:g.96688901C>G						CDK17_uc009ztk.2_Splice_Site_p.L292_splice|CDK17_uc010svb.1_Splice_Site_p.L239_splice	p.L292_splice	NM_002595	NP_002586	Q00537	CDK17_HUMAN			10	1363	-								A8K1U6|B2RCQ2|Q8NEB8	Splice_Site	SNP	ENST00000261211.3	37	c.874_splice	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189807	0.57909	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.603	0.91256	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDK17	95213032	1.000000	0.71417	0.996000	0.52242	0.688000	0.40055	7.701000	0.84566	2.476000	0.83614	0.491000	0.48974	.		0.358	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595	Intron
ZIC2	7546	broad.mit.edu	37	13	100634942	100634942	+	Silent	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr13:100634942G>A	ENST00000376335.3	+	1	917	c.624G>A	c.(622-624)gcG>gcA	p.A208A		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	208	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.				brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACTCGGCGGCGCAACTCCACA	0.677																																					Pancreas(97;119 1522 31925 44771 48764)	uc001von.2																			0					0						c.(622-624)GCG>GCA		zinc finger protein of the cerebellum 2							17.0	20.0	19.0					13																	100634942		2194	4290	6484	SO:0001819	synonymous_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100634942G>A	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.624G>A	13.37:g.100634942G>A							p.A208A	NM_007129	NP_009060	O95409	ZIC2_HUMAN			1	624	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		208			Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).		Q5VYA9|Q9H309	Silent	SNP	ENST00000376335.3	37	c.624G>A	CCDS9495.1																																																																																				0.677	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129	
MDGA2	161357	broad.mit.edu	37	14	47530541	47530541	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr14:47530541G>A	ENST00000399232.2	-	7	1593	c.1229C>T	c.(1228-1230)aCg>aTg	p.T410M	MDGA2_ENST00000357362.3_Missense_Mutation_p.T181M|MDGA2_ENST00000439988.3_Missense_Mutation_p.T479M|MDGA2_ENST00000426342.1_Missense_Mutation_p.T181M	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	410	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T181K(4)|p.T479K(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCAAAATCCGTGAATTTTAA	0.428																																						uc001wwj.3																			6	Substitution - Missense(6)		lung(6)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1228-1230)ACG>ATG		MAM domain containing 1 isoform 1							156.0	143.0	147.0					14																	47530541		1886	4109	5995	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47530541G>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1229C>T	14.37:g.47530541G>A	ENSP00000382178:p.Thr410Met					MDGA2_uc001wwi.3_Missense_Mutation_p.T181M|MDGA2_uc010ani.2_Translation_Start_Site	p.T410M	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			7	1425	-			410			Ig-like 4.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1229C>T		.	.	.	.	.	.	.	.	.	.	G	23.8	4.458885	0.84317	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.64	5.64	0.86602	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	U	0.000066	T	0.61912	0.2385	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.62590	-0.6822	10	0.72032	D	0.01	.	18.2795	0.90094	0.0:0.0:1.0:0.0	.	410	Q7Z553	MDGA2_HUMAN	M	410;181;479;181	ENSP00000400011:T410M;ENSP00000405456:T181M;ENSP00000382178:T479M;ENSP00000349925:T181M	ENSP00000349925:T181M	T	-	2	0	MDGA2	46600291	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.658000	0.90341	0.655000	0.94253	ACG		0.428	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	
OR4N4	283694	broad.mit.edu	37	15	22382513	22382513	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr15:22382513T>A	ENST00000328795.4	+	1	132	c.41T>A	c.(40-42)cTc>cAc	p.L14H	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GAATTTATCCTCCTTGGTCTG	0.343																																						uc001yuc.1																			0				ovary(4)|skin(1)	5						c.(40-42)CTC>CAC		olfactory receptor, family 4, subfamily N,							151.0	145.0	147.0					15																	22382513		2187	4263	6450	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382513T>A	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.41T>A	15.37:g.22382513T>A	ENSP00000332500:p.Leu14His					LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.L14H	p.L14H	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1022	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	14			Extracellular (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.41T>A	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	8.019	0.759109	0.15846	.	.	ENSG00000183706	ENST00000328795	T	0.00563	6.58	3.24	3.24	0.37175	.	0.000000	0.43110	D	0.000616	T	0.04452	0.0122	H	0.99197	4.465	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.21008	-1.0258	10	0.87932	D	0	-11.0895	9.793	0.40717	0.0:0.0:0.0:1.0	.	14	Q8N0Y3	OR4N4_HUMAN	H	14	ENSP00000332500:L14H	ENSP00000332500:L14H	L	+	2	0	OR4N4	19883877	0.531000	0.26338	0.876000	0.34364	0.159000	0.22180	2.935000	0.48963	1.465000	0.48006	0.164000	0.16699	CTC		0.343	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1		
GABRB3	2562	broad.mit.edu	37	15	26812854	26812854	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr15:26812854A>G	ENST00000311550.5	-	7	820	c.709T>C	c.(709-711)Ttt>Ctt	p.F237L	GABRB3_ENST00000299267.4_Missense_Mutation_p.F237L|GABRB3_ENST00000541819.2_Missense_Mutation_p.F293L|GABRB3_ENST00000545868.1_Missense_Mutation_p.F152L|GABRB3_ENST00000400188.3_Missense_Mutation_p.F166L	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	237					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCAACCGAAAGCTCAGTGAC	0.418																																						uc001zaz.2																			0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(709-711)TTT>CTT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						122.0	104.0	110.0					15																	26812854		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26812854A>G		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.709T>C	15.37:g.26812854A>G	ENSP00000308725:p.Phe237Leu					GABRB3_uc010uae.1_Missense_Mutation_p.F152L|GABRB3_uc001zba.2_Missense_Mutation_p.F237L|GABRB3_uc001zbb.2_Missense_Mutation_p.F293L	p.F237L	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	7	851	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	237			Extracellular (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.709T>C	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	A	34	5.331930	0.95733	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.86020	0.5833	M	0.75884	2.315	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.87437	0.2392	10	0.87932	D	0	.	15.7938	0.78394	1.0:0.0:0.0:0.0	.	293;237;237	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	L	237;293;237;166;152	ENSP00000308725:F237L;ENSP00000442408:F293L;ENSP00000299267:F237L;ENSP00000383049:F166L;ENSP00000439169:F152L	ENSP00000299267:F237L	F	-	1	0	GABRB3	24363947	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.204000	0.95041	2.322000	0.78497	0.528000	0.53228	TTT		0.418	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		
TTBK2	146057	broad.mit.edu	37	15	43038437	43038437	+	Silent	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr15:43038437G>A	ENST00000267890.6	-	15	3399	c.3291C>T	c.(3289-3291)gtC>gtT	p.V1097V		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1097			V -> A (in dbSNP:rs55796513). {ECO:0000269|PubMed:17344846}.		cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TACTCCCTAGGACTTTATATC	0.393																																						uc001zqo.2																			0				ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7						c.(3289-3291)GTC>GTT		tau tubulin kinase 2							57.0	52.0	54.0					15																	43038437		1807	4062	5869	SO:0001819	synonymous_variant	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43038437G>A	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3291C>T	15.37:g.43038437G>A						TTBK2_uc010bcy.2_Silent_p.V1028V|uc001zqn.2_5'Flank	p.V1097V	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	15	3730	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	1097					O94932|Q6ZN52|Q8IVV1	Silent	SNP	ENST00000267890.6	37	c.3291C>T	CCDS42029.1																																																																																				0.393	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500	
USP50	373509	broad.mit.edu	37	15	50838708	50838708	+	Silent	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr15:50838708C>T	ENST00000532404.1	-	1	188	c.15G>A	c.(13-15)ccG>ccA	p.P5P	USP50_ENST00000530218.1_5'UTR	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	5					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		CAGGGAGAGACGGCTGAGAAG	0.453																																						uc001zyq.3																			0				lung(1)|breast(1)	2						c.(13-15)CCG>CCA		ubiquitin specific protease 50							161.0	159.0	160.0					15																	50838708		2007	4204	6211	SO:0001819	synonymous_variant	373509				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr15:50838708C>T	AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"""Ubiquitin-specific peptidases"""	20079	protein-coding gene	gene with protein product			"""ubiquitin specific protease 50"""			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.15G>A	15.37:g.50838708C>T							p.P5P	NM_203494	NP_987090	E9PP86	E9PP86_HUMAN		all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)	1	195	-			5					E9PP86	Silent	SNP	ENST00000532404.1	37	c.15G>A	CCDS53944.1																																																																																				0.453	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1		
GRIN2A	2903	broad.mit.edu	37	16	9858210	9858210	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr16:9858210G>A	ENST00000396573.2	-	14	3500	c.3191C>T	c.(3190-3192)aCg>aTg	p.T1064M	GRIN2A_ENST00000562109.1_Missense_Mutation_p.T1064M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1064M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1064M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T907M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T1064M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1064					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCGATTTGACGTTTCTGAAAT	0.507																																						uc002czo.3																			0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3190-3192)ACG>ATG		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						130.0	127.0	128.0					16																	9858210		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858210G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3191C>T	16.37:g.9858210G>A	ENSP00000379818:p.Thr1064Met					GRIN2A_uc010uym.1_Missense_Mutation_p.T1064M|GRIN2A_uc010uyn.1_Missense_Mutation_p.T907M|GRIN2A_uc002czr.3_Missense_Mutation_p.T1064M	p.T1064M	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	3739	-			1064			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3191C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	7.060	0.566233	0.13560	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.11495	2.78;2.77;2.77;2.78;2.78	5.33	4.36	0.52297	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.378962	0.33691	N	0.004656	T	0.12817	0.0311	L	0.36672	1.1	0.27254	N	0.95882	P;P;P	0.48834	0.773;0.916;0.768	B;P;P	0.45971	0.333;0.463;0.499	T	0.04796	-1.0926	9	.	.	.	.	15.0063	0.71516	0.0:0.1431:0.8569:0.0	.	907;1064;1064	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	M	1064;1064;907;1064;1064	ENSP00000379818:T1064M;ENSP00000385872:T1064M;ENSP00000441572:T907M;ENSP00000332549:T1064M;ENSP00000379820:T1064M	.	T	-	2	0	GRIN2A	9765711	0.987000	0.35691	0.269000	0.24586	0.281000	0.26958	3.985000	0.56930	1.220000	0.43490	0.655000	0.94253	ACG		0.507	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
HERPUD1	9709	broad.mit.edu	37	16	56973164	56973164	+	Silent	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr16:56973164G>A	ENST00000439977.2	+	5	644	c.447G>A	c.(445-447)caG>caA	p.Q149Q	RP11-325K4.2_ENST00000570210.1_RNA|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000379792.2_Silent_p.Q124Q|HERPUD1_ENST00000300302.5_Silent_p.Q148Q|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000344114.4_Intron	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	149					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						AAGCTGCCCAGCAGGCATTCC	0.423			T	ERG	prostate																																	uc002eke.1				Dom	yes		16	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""			E	ERG		prostate		0					0						c.(445-447)CAG>CAA		homocysteine-inducible, endoplasmic reticulum							122.0	132.0	129.0					16																	56973164		2198	4300	6498	SO:0001819	synonymous_variant	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56973164G>A	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.447G>A	16.37:g.56973164G>A						HERPUD1_uc002ekf.1_Silent_p.Q148Q|HERPUD1_uc002ekg.1_Silent_p.Q124Q|HERPUD1_uc010cco.1_Silent_p.Q210Q|HERPUD1_uc010ccp.1_Intron|HERPUD1_uc002ekh.1_5'UTR	p.Q149Q	NM_014685	NP_055500	Q15011	HERP1_HUMAN			5	856	+			149			Cytoplasmic (Potential).		E9PGD1|O60644|Q6IAN8|Q96D92	Silent	SNP	ENST00000439977.2	37	c.447G>A	CCDS10771.1																																																																																				0.423	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5		
TAT	6898	broad.mit.edu	37	16	71603782	71603782	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr16:71603782C>T	ENST00000355962.4	-	10	1233	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	367					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CCCAGAAGGGCGGACTGGCCG	0.512																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	uc002fap.2																			0				ovary(2)	2						c.(1099-1101)CGC>CAC		tyrosine aminotransferase	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						53.0	44.0	47.0					16																	71603782		2198	4300	6498	SO:0001583	missense	6898				2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71603782C>T		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.1100G>A	16.37:g.71603782C>T	ENSP00000348234:p.Arg367His						p.R367H	NM_000353	NP_000344	P17735	ATTY_HUMAN		Kidney(780;0.0157)	10	1199	-		Ovarian(137;0.125)	367					B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	c.1100G>A	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.584805	0.28268	.	.	ENSG00000198650	ENST00000355962	D	0.90676	-2.71	5.69	3.41	0.39046	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.199634	0.51477	N	0.000092	D	0.87657	0.6232	L	0.52905	1.665	0.43569	D	0.995894	B	0.15930	0.015	B	0.08055	0.003	D	0.85736	0.1334	10	0.62326	D	0.03	-8.0025	13.3825	0.60775	0.0:0.851:0.0:0.149	.	367	P17735	ATTY_HUMAN	H	367	ENSP00000348234:R367H	ENSP00000348234:R367H	R	-	2	0	TAT	70161283	0.984000	0.35163	1.000000	0.80357	0.980000	0.70556	1.910000	0.39927	1.410000	0.46936	-0.140000	0.14226	CGC		0.512	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1		
NF1	4763	broad.mit.edu	37	17	29677208	29677209	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr17:29677208_29677209insA	ENST00000358273.4	+	50	7712_7713	c.7329_7330insA	c.(7330-7332)acafs	p.T2444fs	NF1_ENST00000417592.2_Frame_Shift_Ins_p.T157fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.T2423fs|NF1_ENST00000444181.2_Frame_Shift_Ins_p.T237fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2444					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGCTTTACTTACAGTGTCTGA	0.356			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		11	Whole gene deletion(8)|Unknown(3)		soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CI992571	NF1	I		c.(7327-7332)CTTACAfs		neurofibromin isoform 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29677208_29677209insA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7330dupA	17.37:g.29677209_29677209dupA	ENSP00000351015:p.Thr2444fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Frame_Shift_Ins_p.L2422fs|NF1_uc010cso.2_Frame_Shift_Ins_p.L631fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA	p.L2443fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	50	7662_7663	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2443_2444					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.7329_7330insA	CCDS42292.1																																																																																				0.356	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
MYO1D	4642	broad.mit.edu	37	17	31105570	31105570	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr17:31105570G>A	ENST00000318217.5	-	3	630	c.326C>T	c.(325-327)aCg>aTg	p.T109M	MYO1D_ENST00000394649.4_Missense_Mutation_p.T21M|MYO1D_ENST00000579584.1_Missense_Mutation_p.T109M|MYO1D_ENST00000583621.1_Missense_Mutation_p.T109M	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	109	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACTGGCTTCCGTTTTACCAGC	0.393																																						uc002hho.1																			0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(325-327)ACG>ATG		myosin ID							147.0	129.0	135.0					17																	31105570		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31105570G>A	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.326C>T	17.37:g.31105570G>A	ENSP00000324527:p.Thr109Met					MYO1D_uc002hhp.1_Missense_Mutation_p.T109M|MYO1D_uc010wcb.1_Missense_Mutation_p.T109M	p.T109M	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		3	338	-			109			ATP (Potential).|Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.326C>T	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879761	0.91740	.	.	ENSG00000176658	ENST00000318217	D	0.83837	-1.77	5.2	5.2	0.72013	Myosin head, motor domain (3);	0.000000	0.40640	U	0.001050	D	0.95182	0.8438	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96781	0.9575	10	0.87932	D	0	.	16.6187	0.84924	0.0:0.0:1.0:0.0	.	20;109	Q7Z3N6;O94832	.;MYO1D_HUMAN	M	109	ENSP00000324527:T109M	ENSP00000324527:T109M	T	-	2	0	MYO1D	28129683	1.000000	0.71417	0.975000	0.42487	0.995000	0.86356	9.596000	0.98267	2.861000	0.98227	0.655000	0.94253	ACG		0.393	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1		
HOXB13	10481	broad.mit.edu	37	17	46804366	46804366	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr17:46804366C>T	ENST00000290295.7	-	2	1225	c.641G>A	c.(640-642)cGt>cAt	p.R214H	PRAC2_ENST00000422730.2_RNA|MIR3185_ENST00000583892.1_RNA|PRAC2_ENST00000432056.1_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	214					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GCGGCCGCGACGAAAGGCGCA	0.622																																						uc002ioa.2																			0					0						c.(640-642)CGT>CAT		homeobox B13							61.0	58.0	59.0					17																	46804366		2203	4300	6503	SO:0001583	missense	10481				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46804366C>T	U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"""Homeoboxes / ANTP class : HOXL subclass"""	5112	protein-coding gene	gene with protein product		604607	"""homeo box B13"""			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.641G>A	17.37:g.46804366C>T	ENSP00000290295:p.Arg214His					hsa-mir-3185|MI0014227_5'Flank	p.R214H	NM_006361	NP_006352	Q92826	HXB13_HUMAN			2	797	-			214					B2R878|Q96QM4|Q99810	Missense_Mutation	SNP	ENST00000290295.7	37	c.641G>A	CCDS11536.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174043	0.78452	.	.	ENSG00000159184	ENST00000290295	D	0.95949	-3.86	5.31	4.28	0.50868	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94006	0.8080	M	0.81112	2.525	0.58432	D	0.999997	P	0.46395	0.877	B	0.36666	0.23	D	0.93715	0.7027	10	0.87932	D	0	.	12.5383	0.56154	0.0:0.9125:0.0:0.0875	.	214	Q92826	HXB13_HUMAN	H	214	ENSP00000290295:R214H	ENSP00000290295:R214H	R	-	2	0	HOXB13	44159365	1.000000	0.71417	0.980000	0.43619	0.946000	0.59487	5.886000	0.69743	1.353000	0.45828	0.655000	0.94253	CGT		0.622	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361	
ANKRD30B	374860	broad.mit.edu	37	18	14851607	14851607	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr18:14851607C>T	ENST00000358984.4	+	36	3487	c.3307C>T	c.(3307-3309)Cat>Tat	p.H1103Y		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1103										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CACACTGAAACATCAACACCA	0.343																																						uc010dlo.2																			0				ovary(1)|skin(1)	2						c.(3307-3309)CAT>TAT		ankyrin repeat domain 30B							50.0	41.0	44.0					18																	14851607		692	1590	2282	SO:0001583	missense	374860							g.chr18:14851607C>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3307C>T	18.37:g.14851607C>T	ENSP00000351875:p.His1103Tyr					ANKRD30B_uc010xal.1_Missense_Mutation_p.H245Y	p.H1103Y	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			36	3487	+			1188			Potential.		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.3307C>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	C	2.101	-0.406072	0.04832	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.14144	2.53	1.48	-1.63	0.08345	.	.	.	.	.	T	0.07728	0.0194	L	0.42245	1.32	0.09310	N	1	B;P	0.38148	0.001;0.62	B;B	0.25405	0.001;0.06	T	0.21895	-1.0232	9	0.56958	D	0.05	.	2.709	0.05169	0.3169:0.2359:0.0:0.4471	.	1188;1103	Q9BXX2;F8WAG3	AN30B_HUMAN;.	Y	1103;497;523	ENSP00000351875:H1103Y	ENSP00000277669:H523Y	H	+	1	0	ANKRD30B	14841607	0.973000	0.33851	0.004000	0.12327	0.103000	0.19146	0.443000	0.21644	-0.403000	0.07622	0.173000	0.16961	CAT		0.343	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029	
DSG3	1830	broad.mit.edu	37	18	29052301	29052301	+	Missense_Mutation	SNP	T	T	A	rs113457225		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr18:29052301T>A	ENST00000257189.4	+	13	2035	c.1952T>A	c.(1951-1953)gTg>gAg	p.V651E		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	651					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACTGGGGGAGTGACAGGTGGT	0.478																																						uc002kws.2																			0				skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(1951-1953)GTG>GAG		desmoglein 3 preproprotein							109.0	113.0	112.0					18																	29052301		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29052301T>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1952T>A	18.37:g.29052301T>A	ENSP00000257189:p.Val651Glu					DSG3_uc002kwt.2_5'Flank	p.V651E	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		13	2061	+			651			Cytoplasmic (Potential).		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.1952T>A	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.381269	0.42207	.	.	ENSG00000134757	ENST00000257189	T	0.59364	0.27	5.73	-4.17	0.03857	.	2.155680	0.02678	N	0.109353	T	0.48169	0.1485	L	0.50333	1.59	0.09310	N	1	B	0.33413	0.411	B	0.32465	0.146	T	0.28138	-1.0053	10	0.19590	T	0.45	.	8.5788	0.33614	0.0:0.451:0.245:0.3039	.	651	P32926	DSG3_HUMAN	E	651	ENSP00000257189:V651E	ENSP00000257189:V651E	V	+	2	0	DSG3	27306299	0.001000	0.12720	0.000000	0.03702	0.245000	0.25701	0.193000	0.17116	-1.012000	0.03387	0.383000	0.25322	GTG		0.478	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
LPHN1	22859	broad.mit.edu	37	19	14261968	14261968	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:14261968C>T	ENST00000340736.6	-	24	4439	c.4142G>A	c.(4141-4143)cGg>cAg	p.R1381Q	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.R1376Q	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1381					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAGGGAGTCCCGGCCAGGAGG	0.731																																						uc010xnn.1																			0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(4141-4143)CGG>CAG		latrophilin 1 isoform 1 precursor							7.0	8.0	8.0					19																	14261968		2079	4111	6190	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14261968C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.4142G>A	19.37:g.14261968C>T	ENSP00000340688:p.Arg1381Gln					LPHN1_uc010xno.1_Missense_Mutation_p.R1376Q|uc002myf.2_Intron	p.R1381Q	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			24	4438	-			1381			Cytoplasmic (Potential).		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.4142G>A	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678218	0.68042	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.76578	-1.03;-1.03	4.07	4.07	0.47477	GPCR, family 2, latrophilin, C-terminal (1);	0.070853	0.56097	D	0.000026	D	0.86385	0.5920	M	0.72118	2.19	0.49051	D	0.99974	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88186	0.2874	10	0.87932	D	0	.	13.7491	0.62897	0.0:1.0:0.0:0.0	.	1376;1381	O94910-2;O94910	.;LPHN1_HUMAN	Q	1381;1376	ENSP00000340688:R1381Q;ENSP00000355328:R1376Q	ENSP00000340688:R1381Q	R	-	2	0	LPHN1	14122968	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	4.198000	0.58419	1.811000	0.52892	0.205000	0.17691	CGG		0.731	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921	
CYP4F3	4051	broad.mit.edu	37	19	15770048	15770048	+	Silent	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:15770048G>A	ENST00000221307.8	+	13	1463	c.1416G>A	c.(1414-1416)gcG>gcA	p.A472A	CYP4F3_ENST00000591058.1_Silent_p.A472A|CYP4F3_ENST00000586182.2_Silent_p.A472A|CYP4F3_ENST00000585846.1_Silent_p.A472A	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	472					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TCGGGCAGGCGTTCGCGATGG	0.672																																						uc002nbj.2																			0				ovary(3)	3						c.(1414-1416)GCG>GCA		cytochrome P450, family 4, subfamily F,							24.0	26.0	25.0					19																	15770048		2203	4300	6503	SO:0001819	synonymous_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15770048G>A	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1416G>A	19.37:g.15770048G>A						CYP4F3_uc010xok.1_Silent_p.A472A|CYP4F3_uc010xol.1_Silent_p.A472A|CYP4F3_uc010xom.1_Silent_p.A323A|CYP4F3_uc002nbk.2_Silent_p.A472A|CYP4F3_uc010xon.1_Silent_p.A182A	p.A472A	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			13	1466	+			472					B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	c.1416G>A	CCDS12332.1																																																																																				0.672	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896	
CYP4F2	8529	broad.mit.edu	37	19	15989728	15989728	+	Silent	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:15989728C>T	ENST00000221700.6	-	13	1511	c.1416G>A	c.(1414-1416)acG>acA	p.T472T		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCATCGCGAACGTCTGCCCGA	0.672																																						uc002nbs.1																			0				ovary(1)|skin(1)	2						c.(1414-1416)ACG>ACA		cytochrome P450, family 4, subfamily F,							46.0	44.0	45.0					19																	15989728		2203	4300	6503	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15989728C>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1416G>A	19.37:g.15989728C>T						CYP4F2_uc010xot.1_Silent_p.T323T	p.T472T	NM_001082	NP_001073	P78329	CP4F2_HUMAN			13	1466	-			472						Silent	SNP	ENST00000221700.6	37	c.1416G>A	CCDS12336.1																																																																																				0.672	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082	
ZNF430	80264	broad.mit.edu	37	19	21239692	21239692	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:21239692A>G	ENST00000261560.5	+	5	759	c.578A>G	c.(577-579)aAt>aGt	p.N193S	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	193					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCAAATCCAAATATACAAAAG	0.279																																						uc002npj.2																			0				skin(2)	2						c.(577-579)AAT>AGT		zinc finger protein 430							24.0	25.0	25.0					19																	21239692		2193	4284	6477	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21239692A>G	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.578A>G	19.37:g.21239692A>G	ENSP00000261560:p.Asn193Ser					ZNF430_uc002npk.2_Missense_Mutation_p.N192S	p.N193S	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN			5	688	+			193					Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.578A>G	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	4.580	0.107662	0.08780	.	.	ENSG00000118620	ENST00000261560	T	0.48522	0.81	0.421	0.421	0.16451	.	.	.	.	.	T	0.54078	0.1836	L	0.57536	1.79	0.09310	N	1	D;P	0.63880	0.993;0.85	D;P	0.68192	0.956;0.507	T	0.39860	-0.9593	9	0.33141	T	0.24	.	2.5045	0.04641	0.5479:1.0E-4:0.0:0.452	.	192;193	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	S	193	ENSP00000261560:N193S	ENSP00000261560:N193S	N	+	2	0	ZNF430	21031532	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-0.759000	0.04761	0.383000	0.24910	0.374000	0.22700	AAT		0.279	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189	
RPSAP58	388524	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:24010294C>G	ENST00000496398.1	+	4	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E	RP11-255H23.4_ENST00000599944.1_lincRNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.Q111E|RP11-255H23.2_ENST00000471224.1_RNA					ribosomal protein SA pseudogene 58									p.Q111E(12)		endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CTTCACTAACCAGATCCAGGC	0.567																																						uc002nrn.2																			12	Substitution - Missense(12)		kidney(6)|urinary_tract(2)|prostate(2)|endometrium(2)		0						c.(331-333)CAG>GAG		ribosomal protein SA																																				SO:0001583	missense	388524							g.chr19:24010294C>G			19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.331C>G	19.37:g.24010294C>G	ENSP00000417240:p.Gln111Glu						p.Q111E	NM_002295	NP_002286					4	754	+									Missense_Mutation	SNP	ENST00000496398.1	37	c.331C>G		.	.	.	.	.	.	.	.	.	.	.	13.90	2.375690	0.42105	.	.	ENSG00000205246	ENST00000496398;ENST00000354585	T;T	0.21932	1.98;1.98	2.52	2.52	0.30459	.	0.000000	0.64402	U	0.000001	T	0.17619	0.0423	.	.	.	0.48830	D	0.999718	B	0.34226	0.443	B	0.32624	0.149	T	0.11084	-1.0602	9	0.72032	D	0.01	.	10.8987	0.47038	0.0:1.0:0.0:0.0	.	111	A6NE09	.	E	111	ENSP00000417240:Q111E;ENSP00000346598:Q111E	ENSP00000346598:Q111E	Q	+	1	0	RPSAP58	23802134	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.812000	0.62613	1.477000	0.48234	0.627000	0.83407	CAG		0.567	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350238.1	NR_003662	
IRGC	56269	broad.mit.edu	37	19	44223553	44223553	+	Silent	SNP	G	G	A	rs201293395		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:44223553G>A	ENST00000244314.5	+	2	1042	c.843G>A	c.(841-843)ccG>ccA	p.P281P		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	281						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AGGCCCTGCCGGTCCCAGGGC	0.632																																					Colon(189;350 2037 11447 13433 38914)	uc002oxh.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(841-843)CCG>CCA		immunity-related GTPase family, cinema							56.0	55.0	55.0					19																	44223553		2202	4297	6499	SO:0001819	synonymous_variant	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223553G>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.843G>A	19.37:g.44223553G>A							p.P281P	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	990	+		Prostate(69;0.0435)	281					Q05BR8	Silent	SNP	ENST00000244314.5	37	c.843G>A	CCDS12629.1																																																																																				0.632	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612	
ZNF296	162979	broad.mit.edu	37	19	45575604	45575605	+	Frame_Shift_Ins	INS	-	-	G	rs538797316		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:45575604_45575605insG	ENST00000303809.2	-	3	896_897	c.682_683insC	c.(682-684)cggfs	p.R228fs		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	228					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GGGGCTCCGCCGGGTGAGGCCG	0.678																																						uc002pao.2																			0					0						c.(682-684)CGGfs		zinc finger protein 296																																				SO:0001589	frameshift_variant	162979				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:45575604_45575605insG	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"""Zinc fingers, C2H2-type"""	15981	protein-coding gene	gene with protein product		613226	"""zinc finger protein 342"""	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.683dupC	19.37:g.45575607_45575607dupG	ENSP00000302770:p.Arg228fs						p.R228fs	NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN			3	739_740	-			228						Frame_Shift_Ins	INS	ENST00000303809.2	37	c.682_683insC	CCDS12653.1																																																																																				0.678	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288	
LILRB1	10859	broad.mit.edu	37	19	55143186	55143186	+	Silent	SNP	C	C	T	rs187037404	byFrequency	TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:55143186C>T	ENST00000396331.1	+	5	663	c.306C>T	c.(304-306)agC>agT	p.S102S	LILRB1_ENST00000324602.7_Silent_p.S102S|LILRB1_ENST00000427581.2_Silent_p.S138S|LILRB1_ENST00000448689.1_Silent_p.S102S|LILRB1_ENST00000396315.1_Silent_p.S102S|LILRB1_ENST00000434867.2_Silent_p.S102S|LILRB1_ENST00000396317.1_Silent_p.S102S|LILRB1_ENST00000396327.3_Silent_p.S102S|LILRB1_ENST00000418536.2_Silent_p.S102S|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396321.2_Silent_p.S102S|LILRB1_ENST00000396332.4_Silent_p.S102S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	102	Ig-like C2-type 1.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ACTATGGTAGCGACACTGCAG	0.602										HNSCC(37;0.09)			c|||	16	0.00319489	0.0121	0.0	5008	,	,		16694	0.0		0.0	False		,,,				2504	0.0					uc002qgj.2																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(304-306)AGC>AGT		leukocyte immunoglobulin-like receptor,		C	,,,	43,4363	46.0+/-80.4	0,43,2160	120.0	114.0	116.0		306,306,306,306	-0.9	0.0	19		116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LILRB1	NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3	,,,	0,43,6460	TT,TC,CC		0.0,0.9759,0.3306	,,,	102/653,102/652,102/652,102/651	55143186	43,12963	2203	4300	6503	SO:0001819	synonymous_variant	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143186C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.306C>T	19.37:g.55143186C>T		HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.S102S|LILRB1_uc002qgk.2_Silent_p.S102S|LILRB1_uc002qgm.2_Silent_p.S102S|LILRB1_uc010erq.2_Silent_p.S102S|LILRB1_uc010err.2_RNA	p.S102S	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	5	646	+			102			Ig-like C2-type 1.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.306C>T	CCDS42617.1																																																																																				0.602	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		
HPCAL1	3241	broad.mit.edu	37	2	10560060	10560060	+	Silent	SNP	C	C	T	rs142524922		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:10560060C>T	ENST00000381765.3	+	4	703	c.177C>T	c.(175-177)ggC>ggT	p.G59G	HPCAL1_ENST00000307845.3_Silent_p.G59G	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	59					signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		TCCCCTACGGCGACGCTTCCA	0.602																																					Pancreas(70;1384 1800 31595 46836)	uc002raj.2																			0				pancreas(1)	1						c.(175-177)GGC>GGT		hippocalcin-like 1		C	,	1,4405	2.1+/-5.4	0,1,2202	111.0	88.0	96.0		177,177	-0.6	1.0	2	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HPCAL1	NM_002149.2,NM_134421.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	59/194,59/194	10560060	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3241						calcium ion binding	g.chr2:10560060C>T		CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"""EF-hand domain containing"""	5145	protein-coding gene	gene with protein product	"""visinin-like protein 3"", ""calcium-binding protein BDR-1"""	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.177C>T	2.37:g.10560060C>T						HPCAL1_uc002rak.2_Silent_p.G59G|HPCAL1_uc002ral.2_Silent_p.G59G|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Silent_p.G59G	p.G59G	NM_002149	NP_002140	P37235	HPCL1_HUMAN		Epithelial(75;0.214)	3	551	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		59					Q969S5	Silent	SNP	ENST00000381765.3	37	c.177C>T	CCDS1671.1																																																																																				0.602	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206898.1	NM_002149	
IWS1	55677	broad.mit.edu	37	2	128262546	128262547	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:128262546_128262547insG	ENST00000295321.4	-	3	1191_1192	c.932_933insC	c.(931-933)cctfs	p.P311fs	IWS1_ENST00000455721.2_Frame_Shift_Ins_p.P318fs|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'Flank	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	311	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGTCACTGGCAGGCCCCTTCTG	0.54																																						uc002ton.2																			0				ovary(1)	1						c.(931-933)CCTfs		IWS1 homolog																																				SO:0001589	frameshift_variant	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262546_128262547insG	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.933dupC	2.37:g.128262548_128262548dupG	ENSP00000295321:p.Pro311fs					IWS1_uc010yzl.1_RNA|uc002too.1_5'Flank|IWS1_uc010fma.2_RNA	p.P311fs	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	1235_1236	-	Colorectal(110;0.1)		311			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Frame_Shift_Ins	INS	ENST00000295321.4	37	c.932_933insC	CCDS2146.1																																																																																				0.540	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969	
AMER3	205147	broad.mit.edu	37	2	131521170	131521170	+	Missense_Mutation	SNP	G	G	A	rs369736958		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:131521170G>A	ENST00000423981.1	+	2	1635	c.1525G>A	c.(1525-1527)Gtc>Atc	p.V509I	AMER3_ENST00000321420.4_Missense_Mutation_p.V509I	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	509					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CATGGGCATCGTCAGCTGGCT	0.677																																						uc002trw.2																			0				pancreas(2)|ovary(1)	3						c.(1525-1527)GTC>ATC		hypothetical protein LOC205147		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4380		0,0,2190	12.0	12.0	12.0		1525,1525,1525,1525	2.5	1.0	2		12	1,8565		0,1,4282	no	missense,missense,missense,missense	FAM123C	NM_152698.2,NM_001105195.1,NM_001105194.1,NM_001105193.1	29,29,29,29	0,1,6472	AA,AG,GG		0.0117,0.0,0.0077	benign,benign,benign,benign	509/862,509/862,509/862,509/862	131521170	1,12945	2190	4283	6473	SO:0001583	missense	205147							g.chr2:131521170G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1525G>A	2.37:g.131521170G>A	ENSP00000392700:p.Val509Ile					FAM123C_uc010fmv.2_Missense_Mutation_p.V509I|FAM123C_uc010fms.1_Missense_Mutation_p.V509I|FAM123C_uc010fmt.1_Missense_Mutation_p.V509I|FAM123C_uc010fmu.1_Missense_Mutation_p.V509I	p.V509I	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1715	+	Colorectal(110;0.1)		509					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1525G>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	1.177	-0.639127	0.03557	0.0	1.17E-4	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.41065	1.01;1.01	4.69	2.54	0.30619	.	0.132495	0.33327	N	0.005040	T	0.15305	0.0369	N	0.04203	-0.255	0.27241	N	0.959135	B	0.17038	0.02	B	0.11329	0.006	T	0.29518	-1.0009	10	0.06494	T	0.89	.	6.2522	0.20852	0.4104:0.0:0.5896:0.0	.	509	Q8N944	F123C_HUMAN	I	509	ENSP00000314914:V509I;ENSP00000392700:V509I	ENSP00000314914:V509I	V	+	1	0	FAM123C	131237640	0.882000	0.30256	0.980000	0.43619	0.851000	0.48451	1.313000	0.33585	0.365000	0.24400	0.561000	0.74099	GTC		0.677	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698	
HECW2	57520	broad.mit.edu	37	2	197183877	197183877	+	Silent	SNP	G	G	A	rs111271189	byFrequency	TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:197183877G>A	ENST00000260983.3	-	9	1919	c.1737C>T	c.(1735-1737)ggC>ggT	p.G579G	HECW2_ENST00000409111.1_Silent_p.G223G	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	579					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGTGTCTGCGCCACTTGTGG	0.607																																						uc002utm.1																			0				skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(1735-1737)GGC>GGT		HECT, C2 and WW domain containing E3 ubiquitin		C		2,4404		0,2,2201	53.0	47.0	49.0		1737	-1.2	0.8	2	dbSNP_132	49	1,8599		0,1,4299	yes	coding-synonymous	HECW2	NM_020760.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		579/1573	197183877	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197183877G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1737C>T	2.37:g.197183877G>A						HECW2_uc002utl.1_Silent_p.G223G	p.G579G	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			9	1920	-			579					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	c.1737C>T	CCDS33354.1																																																																																				0.607	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
ALS2CR12	130540	broad.mit.edu	37	2	202154207	202154207	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:202154207A>C	ENST00000286190.5	-	13	1230	c.1184T>G	c.(1183-1185)aTc>aGc	p.I395S	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.I372S|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.I395S|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.I372S			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	395					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TTCCGTCAGGATCTGTATGGT	0.413																																						uc010ftg.2																			0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1183-1185)ATC>AGC		amyotrophic lateral sclerosis 2 (juvenile)							155.0	155.0	155.0					2																	202154207		2203	4300	6503	SO:0001583	missense	130540				regulation of GTPase activity		protein binding	g.chr2:202154207A>C	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.1184T>G	2.37:g.202154207A>C	ENSP00000286190:p.Ile395Ser					ALS2CR12_uc002uya.3_Missense_Mutation_p.I372S|ALS2CR12_uc010fth.2_RNA	p.I395S	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN			14	1628	-			395			Potential.		G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	c.1184T>G	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	A	1.431	-0.570114	0.03910	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709	T;T;T;T	0.42131	0.98;0.98;1.07;1.07	4.7	-9.41	0.00613	.	1.912250	0.02452	N	0.085654	T	0.17238	0.0414	N	0.14661	0.345	0.09310	N	1	B;B	0.17268	0.021;0.005	B;B	0.10450	0.005;0.005	T	0.11641	-1.0579	10	0.18710	T	0.47	5.7053	0.6198	0.00776	0.184:0.1937:0.2224:0.3999	.	395;372	Q96Q35;G5E9S3	AL2SB_HUMAN;.	S	395;395;372;372	ENSP00000286190:I395S;ENSP00000385098:I395S;ENSP00000376086:I372S;ENSP00000412073:I372S	ENSP00000286190:I395S	I	-	2	0	ALS2CR12	201862452	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-0.930000	0.03972	-1.201000	0.02659	-0.379000	0.06801	ATC		0.413	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163	
TRPM8	79054	broad.mit.edu	37	2	234869620	234869620	+	Silent	SNP	C	C	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:234869620C>A	ENST00000324695.4	+	12	1603	c.1563C>A	c.(1561-1563)ctC>ctA	p.L521L	TRPM8_ENST00000433712.2_Silent_p.L209L	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	521					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATGCCCTCCTCACGTTTGTCT	0.507																																						uc002vvh.2																			0				skin(4)	4						c.(1561-1563)CTC>CTA		transient receptor potential cation channel,	Menthol(DB00825)						105.0	90.0	95.0					2																	234869620		2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234869620C>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1563C>A	2.37:g.234869620C>A						TRPM8_uc010fyj.2_Silent_p.L209L	p.L521L	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	12	1603	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	521			Cytoplasmic (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.1563C>A	CCDS33407.1																																																																																				0.507	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	
PLCG1	5335	broad.mit.edu	37	20	39801169	39801169	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr20:39801169G>A	ENST00000373271.1	+	26	3419	c.3014G>A	c.(3013-3015)cGa>cAa	p.R1005Q	PLCG1_ENST00000373272.2_Missense_Mutation_p.R1005Q|PLCG1_ENST00000244007.3_Missense_Mutation_p.R1005Q|PLCG1_ENST00000608689.1_3'UTR	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1005	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CAGTACAATCGACTGCAGCTC	0.542																																						uc002xjp.1																			0				lung(3)|breast(3)|skin(2)	8						c.(3013-3015)CGA>CAA		phospholipase C, gamma 1 isoform b							71.0	65.0	67.0					20																	39801169		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39801169G>A	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.3014G>A	20.37:g.39801169G>A	ENSP00000362368:p.Arg1005Gln					PLCG1_uc002xjo.1_Missense_Mutation_p.R1005Q|PLCG1_uc010zwe.1_Missense_Mutation_p.R631Q	p.R1005Q	NM_182811	NP_877963	P19174	PLCG1_HUMAN			26	3135	+		Myeloproliferative disorder(115;0.00878)	1005			PI-PLC Y-box.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.3014G>A	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066787	0.55539	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.67698	-0.28;-0.28;-0.28	5.82	5.82	0.92795	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	T	0.54175	0.1842	N	0.21448	0.665	0.80722	D	1	P;P;P	0.41393	0.531;0.748;0.586	B;B;B	0.38616	0.181;0.277;0.277	T	0.51004	-0.8760	10	0.12430	T	0.62	.	20.1054	0.97890	0.0:0.0:1.0:0.0	.	1005;1005;1005	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	Q	1005	ENSP00000244007:R1005Q;ENSP00000362368:R1005Q;ENSP00000362369:R1005Q	ENSP00000244007:R1005Q	R	+	2	0	PLCG1	39234583	1.000000	0.71417	0.891000	0.34965	0.992000	0.81027	6.735000	0.74806	2.757000	0.94681	0.655000	0.94253	CGA		0.542	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
TMPRSS15	5651	broad.mit.edu	37	21	19647560	19647560	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr21:19647560T>A	ENST00000284885.3	-	24	2891	c.2858A>T	c.(2857-2859)aAt>aTt	p.N953I		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	953	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACATATCATATTTTCAGTAAT	0.383																																						uc002ykw.2																			0				ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(2857-2859)AAT>ATT		enterokinase precursor							182.0	174.0	177.0					21																	19647560		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19647560T>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2858A>T	21.37:g.19647560T>A	ENSP00000284885:p.Asn953Ile						p.N953I	NM_002772	NP_002763	P98073	ENTK_HUMAN			24	2889	-			953			Extracellular (Potential).|Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2858A>T	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.398569	0.62177	.	.	ENSG00000154646	ENST00000284885	D	0.93811	-3.29	5.46	3.08	0.35506	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.372137	0.29113	N	0.013118	D	0.94709	0.8293	M	0.62266	1.93	0.32445	N	0.546165	D	0.67145	0.996	D	0.68192	0.956	D	0.93541	0.6878	9	.	.	.	.	8.9815	0.35968	0.0:0.1548:0.0:0.8452	.	953	P98073	ENTK_HUMAN	I	953	ENSP00000284885:N953I	.	N	-	2	0	TMPRSS15	18569431	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	2.273000	0.43381	0.452000	0.26830	0.528000	0.53228	AAT		0.383	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
MX2	4600	broad.mit.edu	37	21	42778692	42778692	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr21:42778692G>A	ENST00000330714.3	+	13	1856	c.1672G>A	c.(1672-1674)Gtg>Atg	p.V558M		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	558					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGACATAAAAGTGAAACACAC	0.343																																						uc002yzf.1																			0				ovary(2)	2						c.(1672-1674)GTG>ATG		myxovirus resistance protein 2							112.0	99.0	103.0					21																	42778692		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42778692G>A		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1672G>A	21.37:g.42778692G>A	ENSP00000333657:p.Val558Met					MX2_uc002yzg.1_Missense_Mutation_p.V281M|MX2_uc010gop.1_Missense_Mutation_p.V40M	p.V558M	NM_002463	NP_002454	P20592	MX2_HUMAN			13	1776	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	558					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.1672G>A	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	9.328	1.059784	0.19987	.	.	ENSG00000183486	ENST00000330714;ENST00000398632	T	0.73047	-0.71	4.19	-7.97	0.01139	Dynamin central domain (1);	1.426930	0.04288	N	0.345073	T	0.45074	0.1324	N	0.14661	0.345	0.09310	N	0.999995	B	0.06786	0.001	B	0.16722	0.016	T	0.23904	-1.0175	10	0.46703	T	0.11	.	1.2475	0.01975	0.236:0.2379:0.3745:0.1516	.	558	P20592	MX2_HUMAN	M	558;32	ENSP00000333657:V558M	ENSP00000333657:V558M	V	+	1	0	MX2	41700562	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.912000	0.00336	-1.171000	0.02765	-0.224000	0.12420	GTG		0.343	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463	
KRTAP10-3	386682	broad.mit.edu	37	21	45978487	45978487	+	Missense_Mutation	SNP	C	C	T	rs587776082|rs386819171		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr21:45978487C>T	ENST00000391620.1	-	1	156	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	38	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.A38S(1)		kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGGGCCGGGGCGCAGCAGCTG	0.697													c|||	1	0.000199681	0.0	0.0	5008	,	,		14269	0.0		0.0	False		,,,				2504	0.001					uc002zfj.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(112-114)GCC>ACC		keratin associated protein 10-3							25.0	27.0	26.0					21																	45978487		2148	4234	6382	SO:0001583	missense	386682					keratin filament		g.chr21:45978487C>T	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.112G>A	21.37:g.45978487C>T	ENSP00000375478:p.Ala38Thr					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.A38T	NM_198696	NP_941969	P60369	KR103_HUMAN			1	157	-			38			3.|18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	c.112G>A	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	t	0.918	-0.716856	0.03206	.	.	ENSG00000212935	ENST00000391620	T	0.04654	3.58	3.49	-0.986	0.10252	.	.	.	.	.	T	0.03305	0.0096	L	0.39020	1.185	0.18873	N	0.999983	B	0.02656	0.0	B	0.01281	0.0	T	0.48222	-0.9054	9	0.15066	T	0.55	.	3.3581	0.07176	0.0:0.3889:0.2077:0.4034	.	38	P60369	KR103_HUMAN	T	38	ENSP00000375478:A38T	ENSP00000375478:A38T	A	-	1	0	KRTAP10-3	44802915	0.000000	0.05858	0.669000	0.29828	0.102000	0.19082	-3.095000	0.00607	-0.010000	0.14271	-0.231000	0.12243	GCC		0.697	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1		
GAL3ST1	9514	broad.mit.edu	37	22	30951019	30951019	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr22:30951019A>C	ENST00000402321.1	-	3	1510	c.1193T>G	c.(1192-1194)aTc>aGc	p.I398S	GAL3ST1_ENST00000406955.1_Missense_Mutation_p.I398S|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.I398S|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.I398S|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.I398S|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.I398S|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.I398S			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	398					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CAGGTACTGGATCTCGGGCGT	0.642																																						uc003aig.1																			0					0						c.(1192-1194)ATC>AGC		galactose-3-O-sulfotransferase 1							57.0	52.0	54.0					22																	30951019		2203	4300	6503	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951019A>C	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1193T>G	22.37:g.30951019A>C	ENSP00000385735:p.Ile398Ser					GAL3ST1_uc003aih.1_Missense_Mutation_p.I398S|GAL3ST1_uc003aii.1_Missense_Mutation_p.I398S|GAL3ST1_uc010gvz.1_Missense_Mutation_p.I398S	p.I398S	NM_004861	NP_004852	Q99999	G3ST1_HUMAN			4	1333	-			398			Lumenal (Potential).		Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.1193T>G	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.372276	0.82573	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24	5.73	5.73	0.89815	.	0.107189	0.64402	D	0.000006	T	0.42743	0.1216	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.25882	-1.0119	10	0.45353	T	0.12	-6.0494	15.66	0.77178	1.0:0.0:0.0:0.0	.	398	Q99999	G3ST1_HUMAN	S	398	ENSP00000385825:I398S;ENSP00000385735:I398S;ENSP00000384122:I398S;ENSP00000384388:I398S;ENSP00000343234:I398S;ENSP00000385207:I398S;ENSP00000402587:I398S	ENSP00000343234:I398S	I	-	2	0	GAL3ST1	29281019	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.200000	0.95010	2.183000	0.69458	0.459000	0.35465	ATC		0.642	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861	
GOLGA4	2803	broad.mit.edu	37	3	37369037	37369037	+	Nonsense_Mutation	SNP	T	T	G			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr3:37369037T>G	ENST00000361924.2	+	14	6034	c.5660T>G	c.(5659-5661)tTa>tGa	p.L1887*	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.L1909*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1887	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTACAGGCTTTACAACAGATG	0.353																																						uc003cgv.2																			0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(5659-5661)TTA>TGA		golgi autoantigen, golgin subfamily a, 4							65.0	68.0	67.0					3																	37369037		2203	4300	6503	SO:0001587	stop_gained	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37369037T>G	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5660T>G	3.37:g.37369037T>G	ENSP00000354486:p.Leu1887*					GOLGA4_uc010hgr.1_Nonsense_Mutation_p.L1448*|GOLGA4_uc003cgw.2_Nonsense_Mutation_p.L1909*|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Nonsense_Mutation_p.L1768*	p.L1887*	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			14	5964	+			1887			Potential.|Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	ENST00000361924.2	37	c.5660T>G	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	T	46	12.843945	0.99700	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	.	.	.	4.97	0.745	0.18359	.	0.742820	0.10468	N	0.671199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	9.6175	0.39701	0.0:0.2505:0.0:0.7495	.	.	.	.	X	1887;1909;1758	.	ENSP00000349305:L1909X	L	+	2	0	GOLGA4	37344041	0.012000	0.17670	0.080000	0.20451	0.985000	0.73830	1.815000	0.38981	0.243000	0.21327	0.523000	0.50628	TTA		0.353	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
ATP13A4	84239	broad.mit.edu	37	3	193160209	193160209	+	Silent	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr3:193160209C>T	ENST00000342695.4	-	19	2611	c.2289G>A	c.(2287-2289)gaG>gaA	p.E763E	ATP13A4_ENST00000392443.3_Silent_p.E744E	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	763						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGTGTTTCTTCTCTTCTACTA	0.433																																						uc003ftd.2																			0				ovary(2)	2						c.(2287-2289)GAG>GAA		ATPase type 13A4							167.0	146.0	153.0					3																	193160209		2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193160209C>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2289G>A	3.37:g.193160209C>T						ATP13A4_uc003fte.1_Silent_p.E763E|ATP13A4_uc011bsr.1_Silent_p.E234E|ATP13A4_uc010hzi.2_RNA	p.E763E	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	19	2397	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		763			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.2289G>A	CCDS3304.2																																																																																				0.433	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279	
TMEM174	134288	broad.mit.edu	37	5	72469988	72469988	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr5:72469988G>A	ENST00000296776.5	+	2	777	c.728G>A	c.(727-729)cGc>cAc	p.R243H	TMEM174_ENST00000511737.1_Intron	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	243						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TCTCTCCCTCGCTAGAGGCTA	0.478																																						uc010izc.2																			0				ovary(1)	1						c.(727-729)CGC>CAC		transmembrane protein 174							81.0	82.0	82.0					5																	72469988		2203	4300	6503	SO:0001583	missense	134288					integral to membrane		g.chr5:72469988G>A	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.728G>A	5.37:g.72469988G>A	ENSP00000296776:p.Arg243His						p.R243H	NM_153217	NP_694949	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	2	776	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	243					B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	c.728G>A	CCDS4018.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389389	0.25118	.	.	ENSG00000164325	ENST00000296776	.	.	.	5.24	3.46	0.39613	.	0.557203	0.19539	N	0.111841	T	0.47135	0.1429	M	0.67953	2.075	0.33373	D	0.573845	B	0.18310	0.027	B	0.14578	0.011	T	0.56068	-0.8040	9	0.87932	D	0	-16.039	5.6435	0.17577	0.1754:0.1752:0.6493:0.0	.	243	Q8WUU8	TM174_HUMAN	H	243	.	ENSP00000296776:R243H	R	+	2	0	TMEM174	72505744	0.004000	0.15560	1.000000	0.80357	0.164000	0.22412	-0.713000	0.05007	0.787000	0.33731	-0.140000	0.14226	CGC		0.478	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217	
PCDHGB4	8641	broad.mit.edu	37	5	140768990	140768990	+	Silent	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr5:140768990C>T	ENST00000519479.1	+	1	1539	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	513	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGTGTTCGCGCAGCGCG	0.667																																						uc003lkc.1																			0					0						c.(1537-1539)TTC>TTT		protocadherin gamma subfamily B, 4 isoform 1							48.0	54.0	52.0					5																	140768990		2045	4180	6225	SO:0001819	synonymous_variant	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140768990C>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1539C>T	5.37:g.140768990C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.F513F	p.F513F	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1539	+			513			Cadherin 5.|Extracellular (Potential).		O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.1539C>T	CCDS54928.1																																																																																				0.667	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736	
WWC1	23286	broad.mit.edu	37	5	167868746	167868746	+	Nonsense_Mutation	SNP	G	G	A	rs148699341		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr5:167868746G>A	ENST00000265293.4	+	16	2842	c.2340G>A	c.(2338-2340)tgG>tgA	p.W780*	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Nonsense_Mutation_p.W780*	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	780	C2.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CGACTCGCTGGTACAACCTTC	0.602																																						uc003lzu.2																			0				ovary(2)|skin(2)|breast(1)	5						c.(2338-2340)TGG>TGA		WW and C2 domain containing 1 isoform 3							51.0	51.0	51.0					5																	167868746		2203	4300	6503	SO:0001587	stop_gained	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167868746G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2340G>A	5.37:g.167868746G>A	ENSP00000265293:p.Trp780*					WWC1_uc003lzv.2_Nonsense_Mutation_p.W780*|WWC1_uc011den.1_Nonsense_Mutation_p.W780*|WWC1_uc003lzw.2_Nonsense_Mutation_p.W579*|WWC1_uc010jjf.1_Nonsense_Mutation_p.W47*	p.W780*	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	16	2433	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	780			C2.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Nonsense_Mutation	SNP	ENST00000265293.4	37	c.2340G>A	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	7.949501|7.949501	0.98577|0.98577	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000393895;ENST00000524228|ENST00000265293;ENST00000521089;ENST00000524038	.|.	.|.	.|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.337998	.|0.31188	.|N	.|0.008094	T|.	0.38108|.	0.1028|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31138|.	-0.9954|.	3|.	.|0.02654	.|T	.|1	.|.	15.9364|15.9364	0.79712|0.79712	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	I|X	742;557|780;780;106	.|.	.|ENSP00000265293:W780X	V|W	+|+	1|3	0|0	WWC1|WWC1	167801324|167801324	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.306000|6.306000	0.72810|0.72810	2.497000|2.497000	0.84241|0.84241	0.456000|0.456000	0.33151|0.33151	GTA|TGG		0.602	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238	
OR2B2	81697	broad.mit.edu	37	6	27879956	27879956	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:27879956C>T	ENST00000303324.2	-	1	218	c.142G>A	c.(142-144)Gtg>Atg	p.V48M		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						ACATGTGACACAAGAATTATT	0.388																																						uc011dkw.1																			0					0						c.(142-144)GTG>ATG		olfactory receptor, family 2, subfamily B,							113.0	111.0	111.0					6																	27879956		2203	4300	6503	SO:0001583	missense	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879956C>T	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.142G>A	6.37:g.27879956C>T	ENSP00000304419:p.Val48Met						p.V48M	NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN			1	142	-			48			Helical; Name=1; (Potential).		B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.142G>A	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	C	6.332	0.429270	0.11987	.	.	ENSG00000168131	ENST00000303324	T	0.03094	4.05	4.37	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	0.489152	0.14999	N	0.286208	T	0.02494	0.0076	M	0.82630	2.6	0.09310	N	1	P	0.39940	0.696	B	0.36766	0.232	T	0.30822	-0.9965	10	0.72032	D	0.01	.	8.0989	0.30846	0.0:0.7457:0.1607:0.0936	.	48	Q9GZK3	OR2B2_HUMAN	M	48	ENSP00000304419:V48M	ENSP00000304419:V48M	V	-	1	0	OR2B2	27987935	0.000000	0.05858	0.030000	0.17652	0.071000	0.16799	-1.297000	0.02759	0.509000	0.28195	0.563000	0.77884	GTG		0.388	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1		
MAS1L	116511	broad.mit.edu	37	6	29455605	29455605	+	Silent	SNP	G	G	C			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:29455605G>C	ENST00000377127.3	-	1	133	c.75C>G	c.(73-75)ctC>ctG	p.L25L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	25					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGCTACATGAGAGAGATATCT	0.522																																					NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.1																			0				ovary(7)|lung(2)	9						c.(73-75)CTC>CTG		MAS1 oncogene-like							78.0	79.0	79.0					6																	29455605		2203	4300	6503	SO:0001819	synonymous_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455605G>C	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.75C>G	6.37:g.29455605G>C							p.L25L	NM_052967	NP_443199	P35410	MAS1L_HUMAN			1	75	-			25			Extracellular (Potential).		Q5SUN5	Silent	SNP	ENST00000377127.3	37	c.75C>G	CCDS4661.1																																																																																				0.522	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967	
HLA-F	3134	broad.mit.edu	37	6	29691648	29691648	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:29691648A>G	ENST00000376861.1	+	3	662	c.278A>G	c.(277-279)cAg>cGg	p.Q93R	HLA-F_ENST00000434407.2_Missense_Mutation_p.Q93R|HLA-F_ENST00000259951.7_Missense_Mutation_p.Q93R|HLA-F_ENST00000334668.4_Missense_Mutation_p.Q93R|HLA-F_ENST00000440587.2_5'UTR			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	93	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GCCAACGCACAGACTGACCGA	0.682																																						uc010jrl.2																			0					0						c.(277-279)CAG>CGG		major histocompatibility complex, class I, F							15.0	16.0	15.0					6																	29691648		1505	2703	4208	SO:0001583	missense	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29691648A>G	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.278A>G	6.37:g.29691648A>G	ENSP00000366057:p.Gln93Arg					HLA-F_uc003nnm.3_Missense_Mutation_p.Q93R|HLA-F_uc003nno.3_Missense_Mutation_p.Q93R|HLA-F_uc011dlx.1_Missense_Mutation_p.Q93R|HLA-F_uc011dly.1_RNA	p.Q93R	NM_018950	NP_061823	P30511	HLAF_HUMAN			2	402	+			93			Alpha-1.|Extracellular (Potential).		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.278A>G	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	11.31	1.601105	0.28534	.	.	ENSG00000204642	ENST00000376861;ENST00000414333;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000399258;ENST00000434407	T;T;T;T;T	0.00873	5.59;5.59;5.59;5.59;5.59	1.63	0.241	0.15494	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.261650	0.06497	N	0.735690	T	0.02342	0.0072	M	0.92077	3.27	0.21105	N	0.999788	B;P;B;P	0.40834	0.007;0.73;0.0;0.683	B;P;B;P	0.59889	0.034;0.684;0.0;0.865	T	0.18272	-1.0342	10	0.87932	D	0	.	5.4403	0.16504	0.8042:0.0:0.1958:0.0	.	93;93;93;93	A8MVU7;P30511;P30511-3;P30511-2	.;HLAF_HUMAN;.;.	R	93;93;70;93;93;93;93	ENSP00000366057:Q93R;ENSP00000389590:Q93R;ENSP00000334263:Q93R;ENSP00000259951:Q93R;ENSP00000397376:Q93R	ENSP00000259951:Q93R	Q	+	2	0	HLA-F	29799627	0.003000	0.15002	0.003000	0.11579	0.005000	0.04900	0.180000	0.16860	-0.703000	0.05049	-1.443000	0.01068	CAG		0.682	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950	
AGPAT1	10554	broad.mit.edu	37	6	32139093	32139093	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:32139093G>A	ENST00000395499.1	-	2	760	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000412465.2_De_novo_Start_OutOfFrame|AGPAT1_ENST00000375107.3_Missense_Mutation_p.R61C|AGPAT1_ENST00000395496.1_Missense_Mutation_p.R61C|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375104.2_Missense_Mutation_p.R61C|AGPAT1_ENST00000395497.1_Missense_Mutation_p.R61C|AGPAT1_ENST00000336984.6_Missense_Mutation_p.R61C			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	61					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						TCGACGTTGCGTCCTCGCACG	0.567																																						uc003oae.2																			0				central_nervous_system(1)	1						c.(181-183)CGC>TGC		1-acylglycerol-3-phosphate O-acyltransferase 1							185.0	158.0	168.0					6																	32139093		1511	2708	4219	SO:0001583	missense	10554				energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr6:32139093G>A	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	324	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, alpha"""	603099	"""1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"""			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.181C>T	6.37:g.32139093G>A	ENSP00000378877:p.Arg61Cys					PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Missense_Mutation_p.T54M|AGPAT1_uc003oaf.2_Missense_Mutation_p.R61C|AGPAT1_uc003oag.2_Missense_Mutation_p.T54M|AGPAT1_uc003oah.2_Missense_Mutation_p.R61C|AGPAT1_uc003oai.1_Missense_Mutation_p.R61C|AGPAT1_uc011dpl.1_Translation_Start_Site	p.R61C	NM_006411	NP_006402	Q99943	PLCA_HUMAN			2	499	-			61					A2BFI5|Q5BL03	Missense_Mutation	SNP	ENST00000395499.1	37	c.181C>T	CCDS4744.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788291	0.70337	.	.	ENSG00000204310	ENST00000395496;ENST00000375107;ENST00000395499;ENST00000375104;ENST00000395497;ENST00000336984	D;D;D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44;-3.44;-3.44	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.96216	0.8766	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96802	0.9590	10	0.87932	D	0	-14.9565	16.0303	0.80572	0.0:0.0:1.0:0.0	.	61	Q99943	PLCA_HUMAN	C	61	ENSP00000378874:R61C;ENSP00000364248:R61C;ENSP00000378877:R61C;ENSP00000364245:R61C;ENSP00000378875:R61C;ENSP00000337463:R61C	ENSP00000337463:R61C	R	-	1	0	AGPAT1	32247071	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.221000	0.58574	2.392000	0.81423	0.561000	0.74099	CGC		0.567	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	NM_006411	
MAPK13	5603	broad.mit.edu	37	6	36099124	36099124	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:36099124G>A	ENST00000211287.4	+	2	458	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	MAPK13_ENST00000373761.6_Missense_Mutation_p.A66T|MAPK13_ENST00000490334.1_3'UTR|MAPK13_ENST00000373759.1_5'UTR|MAPK13_ENST00000373766.5_Missense_Mutation_p.A66T	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	66	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CGAGATCTTCGCCAAGCGCGC	0.662																																						uc003ols.2																			0				breast(2)|central_nervous_system(1)	3						c.(196-198)GCC>ACC		mitogen-activated protein kinase 13							63.0	66.0	65.0					6																	36099124		2203	4300	6503	SO:0001583	missense	5603				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding	g.chr6:36099124G>A	Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.196G>A	6.37:g.36099124G>A	ENSP00000211287:p.Ala66Thr					MAPK13_uc003olt.2_RNA	p.A66T	NM_002754	NP_002745	O15264	MK13_HUMAN			2	294	+			66			Protein kinase.		O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Missense_Mutation	SNP	ENST00000211287.4	37	c.196G>A	CCDS4818.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156708	0.94686	.	.	ENSG00000156711	ENST00000373761;ENST00000211287;ENST00000373770;ENST00000373766	T;T;T	0.65732	-0.17;-0.17;-0.17	4.58	3.71	0.42584	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	U	0.000250	T	0.64713	0.2623	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.64877	0.93	T	0.69760	-0.5058	10	0.87932	D	0	-18.8757	12.1089	0.53827	0.0838:0.0:0.9162:0.0	.	66	O15264	MK13_HUMAN	T	66	ENSP00000362866:A66T;ENSP00000211287:A66T;ENSP00000362871:A66T	ENSP00000211287:A66T	A	+	1	0	MAPK13	36207102	1.000000	0.71417	0.981000	0.43875	0.978000	0.69477	9.686000	0.98664	0.922000	0.37019	0.462000	0.41574	GCC		0.662	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1		
TDRD6	221400	broad.mit.edu	37	6	46659003	46659003	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:46659003T>A	ENST00000316081.6	+	1	3138	c.3138T>A	c.(3136-3138)gaT>gaA	p.D1046E	TDRD6_ENST00000544460.1_Missense_Mutation_p.D1046E	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1046	Tudor 5. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGTATACTGATGGAAACTGGT	0.358																																						uc003oyj.2																			0				breast(3)|ovary(2)|skin(1)	6						c.(3136-3138)GAT>GAA		tudor domain containing 6							74.0	79.0	77.0					6																	46659003		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46659003T>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3138T>A	6.37:g.46659003T>A	ENSP00000346065:p.Asp1046Glu					TDRD6_uc010jze.2_Missense_Mutation_p.D1040E	p.D1046E	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	3138	+			1046			Tudor 5.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.3138T>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.787266	0.49997	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15718	2.4;2.4	5.45	-1.06	0.10002	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	M	0.81239	2.535	0.26154	N	0.980106	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.07751	-1.0756	10	0.52906	T	0.07	-16.2006	11.1344	0.48367	0.0:0.4216:0.0:0.5784	.	1046;1046	F5H5M3;O60522	.;TDRD6_HUMAN	E	1046	ENSP00000443299:D1046E;ENSP00000346065:D1046E	ENSP00000346065:D1046E	D	+	3	2	TDRD6	46766962	0.963000	0.33076	0.991000	0.47740	0.707000	0.40811	0.109000	0.15417	0.035000	0.15519	0.533000	0.62120	GAT		0.358	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
TAAR1	134864	broad.mit.edu	37	6	132966960	132966960	+	Silent	SNP	G	G	C			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:132966960G>C	ENST00000275216.1	-	1	182	c.183C>G	c.(181-183)ctC>ctG	p.L61L		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	61					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	TGGAATGAATGAGCCAATTTG	0.423																																						uc003qdm.1																			0					0						c.(181-183)CTC>CTG		trace amine associated receptor 1	Amphetamine(DB00182)						133.0	130.0	131.0					6																	132966960		2203	4300	6503	SO:0001819	synonymous_variant	134864					plasma membrane		g.chr6:132966960G>C	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.183C>G	6.37:g.132966960G>C							p.L61L	NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	183	-	Breast(56;0.135)		61			Helical; Name=2; (Potential).		Q2M1W5|Q3MIH8|Q5VUQ1	Silent	SNP	ENST00000275216.1	37	c.183C>G	CCDS5158.1																																																																																				0.423	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327	
GRM1	2911	broad.mit.edu	37	6	146350618	146350618	+	5'UTR	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:146350618C>T	ENST00000282753.1	+	0	200				GRM1_ENST00000492807.2_5'UTR|GRM1_ENST00000507907.1_5'Flank|GRM1_ENST00000355289.4_5'UTR|GRM1_ENST00000392299.2_5'UTR|GRM1_ENST00000361719.2_5'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AGCGTGGGAACGCGGCTGGCA	0.647																																						uc010khw.1																			0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(-37--33)AACGC>AATGC		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						50.0	59.0	56.0					6																	146350618		2203	4300	6503	SO:0001623	5_prime_UTR_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350618C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.-36C>T	6.37:g.146350618C>T						GRM1_uc010khu.1_Translation_Start_Site|GRM1_uc010khv.1_Translation_Start_Site|GRM1_uc003qll.2_Translation_Start_Site|GRM1_uc011edz.1_Translation_Start_Site|GRM1_uc011eea.1_Translation_Start_Site		NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	435	+		Ovarian(120;0.0387)						B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Translation_Start_Site	SNP	ENST00000282753.1	37	c.-35C>T	CCDS5209.1																																																																																				0.647	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
SNX9	51429	broad.mit.edu	37	6	158331016	158331016	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:158331016C>T	ENST00000392185.3	+	9	1079	c.908C>T	c.(907-909)tCa>tTa	p.S303L		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	303	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AAGTTTGGGTCAGCCATTCCA	0.408																																						uc003qqv.1																			0					0						c.(907-909)TCA>TTA		sorting nexin 9							191.0	197.0	195.0					6																	158331016		2203	4300	6503	SO:0001583	missense	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158331016C>T	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.908C>T	6.37:g.158331016C>T	ENSP00000376024:p.Ser303Leu						p.S303L	NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	9	1081	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	303			PX.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	c.908C>T	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161556	0.57368	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.29917	1.55	5.56	4.69	0.59074	Phox homologous domain (5);	0.408600	0.28343	N	0.015699	T	0.10766	0.0263	L	0.37561	1.115	0.48185	D	0.999601	B	0.26902	0.163	B	0.28232	0.087	T	0.08493	-1.0719	10	0.35671	T	0.21	-19.4378	9.2072	0.37296	0.0:0.7675:0.0:0.2325	.	303	Q9Y5X1	SNX9_HUMAN	L	303;303;103	ENSP00000376024:S303L	ENSP00000252631:S103L	S	+	2	0	SNX9	158251004	0.998000	0.40836	0.991000	0.47740	0.986000	0.74619	3.620000	0.54203	-0.188000	0.10499	0.533000	0.62120	TCA		0.408	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1		
GPR141	353345	broad.mit.edu	37	7	37780793	37780793	+	Silent	SNP	C	C	T	rs146749644	byFrequency	TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr7:37780793C>T	ENST00000447769.1	+	4	1087	c.798C>T	c.(796-798)aaC>aaT	p.N266N	GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Silent_p.N266N			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.N266K(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CATTTTATAACGAAATCTTCT	0.383																																						uc003tfm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(796-798)AAC>AAT		G protein-coupled receptor 141		C		5,4401	9.9+/-24.2	0,5,2198	157.0	151.0	153.0		798	-0.3	1.0	7	dbSNP_134	153	0,8600		0,0,4300	no	coding-synonymous	GPR141	NM_181791.1		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		266/306	37780793	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780793C>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.798C>T	7.37:g.37780793C>T						uc003tfl.2_Intron	p.N266N	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			1	798	+			266			Extracellular (Potential).		A4D1X7|Q0VAR5|Q86SP3	Silent	SNP	ENST00000447769.1	37	c.798C>T	CCDS5451.1																																																																																				0.383	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791	
ABCB1	5243	broad.mit.edu	37	7	87190658	87190658	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr7:87190658delC	ENST00000265724.3	-	9	1165	c.748delG	c.(748-750)gctfs	p.A250fs	ABCB1_ENST00000543898.1_Frame_Shift_Del_p.A186fs	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	250	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.A250T(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ACTGCTCCAGCTTTTGCATAC	0.318																																						uc003uiz.1																			1	Substitution - Missense(1)	p.A250T(1)	central_nervous_system(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(748-750)GCTfs		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						71.0	70.0	71.0					7																	87190658		2202	4299	6501	SO:0001589	frameshift_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87190658delC	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.748delG	7.37:g.87190658delC	ENSP00000265724:p.Ala250fs					ABCB1_uc011khc.1_Frame_Shift_Del_p.A186fs	p.A250fs	NM_000927	NP_000918	P08183	MDR1_HUMAN			9	1166	-	Esophageal squamous(14;0.00164)		250			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Frame_Shift_Del	DEL	ENST00000265724.3	37	c.748delG	CCDS5608.1																																																																																				0.318	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
HIPK2	28996	broad.mit.edu	37	7	139316027	139316027	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr7:139316027G>A	ENST00000406875.3	-	4	1325	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	HIPK2_ENST00000428878.2_Missense_Mutation_p.R411W|HIPK2_ENST00000342645.6_Missense_Mutation_p.R411W	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	411	Interaction with DAXX.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GAAATATACCGAATCTGCAAG	0.408																																						uc003vvf.3																			0				ovary(3)|central_nervous_system(3)|skin(1)	7						c.(1231-1233)CGG>TGG		homeodomain interacting protein kinase 2 isoform							47.0	46.0	46.0					7																	139316027		1846	4117	5963	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139316027G>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1231C>T	7.37:g.139316027G>A	ENSP00000385571:p.Arg411Trp					HIPK2_uc003vvd.3_Missense_Mutation_p.R411W	p.R411W	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN			4	1405	-	Melanoma(164;0.205)		411			Protein kinase.|Interaction with DAXX.		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.1231C>T		.	.	.	.	.	.	.	.	.	.	G	31	5.098508	0.94197	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.66280	-0.2;-0.2;-0.2	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.81365	0.4807	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.83637	0.0148	8	0.87932	D	0	.	19.2573	0.93951	0.0:0.0:1.0:0.0	.	411;411	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	W	411	ENSP00000385571:R411W;ENSP00000413724:R411W;ENSP00000343108:R411W	ENSP00000343108:R411W	R	-	1	2	HIPK2	138966567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.763000	0.85283	2.546000	0.85860	0.460000	0.39030	CGG		0.408	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740	
KEL	3792	broad.mit.edu	37	7	142658446	142658446	+	Splice_Site	SNP	C	C	T	rs369569464		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr7:142658446C>T	ENST00000355265.2	-	3	698		c.e3+1		KEL_ENST00000479768.2_Splice_Site	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ATCTTGCTTACGAGGGCCACA	0.602																																						uc003wcb.2																			0				ovary(3)|central_nervous_system(1)	4	GRCh37	CS012497|CS012498	KEL	S		c.e3+1		Kell blood group, metallo-endopeptidase		C		0,4406		0,0,2203	58.0	57.0	57.0			4.4	0.9	7		57	1,8599	1.2+/-3.3	0,1,4299	no	splice-5	KEL	NM_000420.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			142658446	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142658446C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.223+1G>A	7.37:g.142658446C>T							p.R75_splice	NM_000420	NP_000411	P23276	KELL_HUMAN			3	433	-	Melanoma(164;0.059)							B2RBV4|Q96RS8|Q99885	Splice_Site	SNP	ENST00000355265.2	37	c.223_splice	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	9.086	1.000416	0.19121	0.0	1.16E-4	ENSG00000197993	ENST00000355265;ENST00000476829;ENST00000467543;ENST00000460479	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4997	0.55948	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KEL	142368568	0.890000	0.30428	0.875000	0.34327	0.027000	0.11550	3.682000	0.54656	2.319000	0.78375	0.655000	0.94253	.		0.602	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	Intron
PCM1	5108	broad.mit.edu	37	8	17872225	17872226	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr8:17872225_17872226insA	ENST00000519253.1	+	36	5944_5945	c.5693_5694insA	c.(5692-5697)ttacgtfs	p.R1899fs	PCM1_ENST00000327578.8_Frame_Shift_Ins_p.R606fs|PCM1_ENST00000325083.8_Frame_Shift_Ins_p.R1907fs|PCM1_ENST00000524226.1_Intron			Q15154	PCM1_HUMAN	pericentriolar material 1	1907					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		CCTTTGCCGTTACGTTTACCTG	0.436			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	uc003wyi.3				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	RET|JAK2		papillary thyroid|CML|MPD	PCM1/JAK2(30)	0				haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36						c.(5716-5718)TTAfs		pericentriolar material 1																																				SO:0001589	frameshift_variant	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17872225_17872226insA		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.5694dupA	8.37:g.17872226_17872226dupA	ENSP00000431099:p.Arg1899fs					PCM1_uc011kyh.1_Frame_Shift_Ins_p.L1898fs|PCM1_uc003wyj.3_Intron|PCM1_uc011kyi.1_Frame_Shift_Ins_p.L705fs|PCM1_uc011kyj.1_Frame_Shift_Ins_p.L662fs|PCM1_uc003wyk.3_Frame_Shift_Ins_p.L588fs|PCM1_uc011kyk.1_Frame_Shift_Ins_p.L522fs	p.L1906fs	NM_006197	NP_006188	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	36	6139_6140	+			1906					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Frame_Shift_Ins	INS	ENST00000519253.1	37	c.5717_5718insA																																																																																					0.436	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197	
PRUNE2	158471	broad.mit.edu	37	9	79322930	79322930	+	Silent	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr9:79322930G>A	ENST00000376718.3	-	8	4383	c.4260C>T	c.(4258-4260)tcC>tcT	p.S1420S	PRUNE2_ENST00000428286.1_Silent_p.S1061S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1420					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.S1420S(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGTTATCTGCGGACATCCCTG	0.443																																						uc010mpk.2																			1	Substitution - coding silent(1)		large_intestine(1)		0						c.(4258-4260)TCC>TCT		prune homolog 2							66.0	61.0	63.0					9																	79322930		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322930G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4260C>T	9.37:g.79322930G>A							p.S1420S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	4384	-			1420					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.4260C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	3.653	-0.071084	0.07228	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.29	-2.31	0.06765	.	.	.	.	.	T	0.30759	0.0775	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.33701	-0.9858	4	.	.	.	-7.8986	8.2375	0.31636	0.4877:0.1055:0.4068:0.0	.	.	.	.	C	742	.	.	R	-	1	0	PRUNE2	78512750	0.107000	0.21998	0.000000	0.03702	0.001000	0.01503	0.067000	0.14510	-0.489000	0.06716	-0.940000	0.02684	CGC		0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
CYBB	1536	broad.mit.edu	37	X	37663372	37663372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chrX:37663372G>A	ENST00000378588.4	+	9	1207	c.1140G>A	c.(1138-1140)tgG>tgA	p.W380*	CYBB_ENST00000545017.1_Nonsense_Mutation_p.W348*|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Nonsense_Mutation_p.W113*	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	380	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	AAGATGCGTGGAAACTACCTA	0.423																																						uc004ddr.2																			0				central_nervous_system(1)|skin(1)	2						c.(1138-1140)TGG>TGA		cytochrome b-245 beta polypeptide							67.0	62.0	64.0					X																	37663372		2202	4300	6502	SO:0001587	stop_gained	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37663372G>A	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1140G>A	X.37:g.37663372G>A	ENSP00000367851:p.Trp380*					CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Nonsense_Mutation_p.W348*|CYBB_uc011mkg.1_Nonsense_Mutation_p.W113*	p.W380*	NM_000397	NP_000388	P04839	CY24B_HUMAN			9	1201	+			380			Cytoplasmic (Potential).|FAD-binding FR-type.		A8K138|Q2PP16	Nonsense_Mutation	SNP	ENST00000378588.4	37	c.1140G>A	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	G	39	7.902696	0.98551	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.9785	0.92747	0.0:0.0:1.0:0.0	.	.	.	.	X	380;348;113	.	ENSP00000367851:W380X	W	+	3	0	CYBB	37548316	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.654000	0.91092	2.430000	0.82344	0.544000	0.68410	TGG		0.423	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1		
ZCCHC5	203430	broad.mit.edu	37	X	77913863	77913863	+	Missense_Mutation	SNP	G	G	A	rs148985625		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chrX:77913863G>A	ENST00000321110.1	-	2	350	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	19							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGAGCCTGCCGAATTTCATTC	0.463																																						uc004edc.1																			0				ovary(1)	1						c.(55-57)CGG>TGG		zinc finger, CCHC domain containing 5							52.0	43.0	46.0					X																	77913863		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913863G>A	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.55C>T	X.37:g.77913863G>A	ENSP00000316794:p.Arg19Trp						p.R19W	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	351	-			19					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.55C>T	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	9.699	1.154098	0.21371	.	.	ENSG00000179300	ENST00000321110	T	0.18810	2.19	3.24	2.37	0.29283	.	.	.	.	.	T	0.09642	0.0237	N	0.08118	0	0.22591	N	0.998954	B	0.33904	0.431	B	0.29942	0.109	T	0.20472	-1.0274	9	0.87932	D	0	.	5.7017	0.17885	0.152:0.0:0.848:0.0	.	19	Q8N8U3	ZCHC5_HUMAN	W	19	ENSP00000316794:R19W	ENSP00000316794:R19W	R	-	1	2	ZCCHC5	77800519	1.000000	0.71417	0.999000	0.59377	0.490000	0.33462	1.322000	0.33689	0.749000	0.32854	0.513000	0.50165	CGG		0.463	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694	
GPR174	84636	broad.mit.edu	37	X	78426556	78426556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chrX:78426556C>T	ENST00000276077.1	+	1	88	c.52C>T	c.(52-54)Cga>Tga	p.R18*		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R18*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TACAGATTTTCGATACTTTAT	0.383										HNSCC(63;0.18)																												uc004edg.1																			1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	lung(1)|central_nervous_system(1)	2						c.(52-54)CGA>TGA		putative purinergic receptor FKSG79							108.0	92.0	97.0					X																	78426556		2203	4300	6503	SO:0001587	stop_gained	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78426556C>T	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.52C>T	X.37:g.78426556C>T	ENSP00000276077:p.Arg18*	HNSCC(63;0.18)					p.R18*	NM_032553	NP_115942	Q9BXC1	GP174_HUMAN			1	88	+			18			Extracellular (Potential).		Q2M3F7	Nonsense_Mutation	SNP	ENST00000276077.1	37	c.52C>T	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381352	0.42207	.	.	ENSG00000147138	ENST00000276077	.	.	.	5.0	3.18	0.36537	.	0.325448	0.24933	N	0.034445	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	7.9489	0.30003	0.4536:0.401:0.1453:0.0	.	.	.	.	X	18	.	ENSP00000276077:R18X	R	+	1	2	GPR174	78313212	1.000000	0.71417	0.899000	0.35326	0.142000	0.21351	1.998000	0.40796	0.339000	0.23719	-0.341000	0.08007	CGA		0.383	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553	
NKAP	79576	broad.mit.edu	37	X	119077554	119077554	+	Silent	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chrX:119077554G>A	ENST00000371410.3	-	1	181	c.15C>T	c.(13-15)tcC>tcT	p.S5S		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	5	Ser-rich.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TGCGTGAGCCGGACACCGGAG	0.692																																						uc004esh.2																			0				ovary(2)	2						c.(13-15)TCC>TCT		NFKB activating protein							14.0	16.0	15.0					X																	119077554		2137	4152	6289	SO:0001819	synonymous_variant	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119077554G>A	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.15C>T	X.37:g.119077554G>A							p.S5S	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN			1	182	-			5			Ser-rich.		Q6IPW6|Q96BQ2|Q9H638	Silent	SNP	ENST00000371410.3	37	c.15C>T	CCDS14592.1																																																																																				0.692	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528	
